{"id":15878,"date":"2021-12-14T13:02:39","date_gmt":"2021-12-14T13:02:39","guid":{"rendered":"https:\/\/incilab.az\/genetik-testl%c9%99r-qrupu\/"},"modified":"2023-09-14T09:08:13","modified_gmt":"2023-09-14T09:08:13","slug":"group-of-genetic-tests","status":"publish","type":"page","link":"https:\/\/incilab.az\/en\/group-of-genetic-tests\/","title":{"rendered":"Group of genetic tests"},"content":{"rendered":"

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ALFA-1 ANT\u0130TR\u0130PS\u0130N MUTAS\u0130YA ANAL\u0130Z\u0130 (GENOT\u0130PL\u018fND\u0130RM\u018f)<\/a><\/h2>\r\n
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N\u00fcmun\u0259 n\u00f6v\u00fc:<\/strong>\u00a0EDTA-l\u0131 tam qan<\/p>\n

N\u00fcmun\u0259 qab\u0131:<\/strong>\u00a0Q\u0131rm\u0131z\u0131 qapaql\u0131 s\u0131\u00adnaq \u015f\u00fc\u015f\u0259si<\/p>\n

N\u00fcmun\u0259 miqdar\u0131:<\/strong>\u00a05 mL<\/p>\n

\u0130\u015f prinsipi:\u00a0<\/strong>PZR<\/p>\n

\u0130stifad\u0259si:\u00a0<\/strong>Alfa-1 anantitrispin \u00e7at\u0131\u015f\u00admazl\u0131\u011f\u0131 diaqnozunun d\u0259qiql\u0259\u015f\u00addiril\u00adm\u0259\u00adsi v\u0259 spesifik allergik variant\u0131n t\u0259yinind\u0259 istifad\u0259 olunur<\/p>\n\r\n <\/div>\r\n <\/div>\r\n <\/section>

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APOL\u0130POPROTE\u0130N E GENOT\u0130PL\u018fND\u0130RM\u018fS\u0130<\/a><\/h2>\r\n
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N\u00fcmun\u0259 n\u00f6v\u00fc:<\/strong>\u00a0EDTA-l\u0131 tam qan<\/p>\n

N\u00fcmun\u0259 qab\u0131:<\/strong>\u00a0B\u0259n\u00f6v\u015f\u0259yi qapaql\u0131 s\u0131naq \u015f\u00fc\u015f\u0259si<\/p>\n

N\u00fcmun\u0259 miqdar\u0131:\u00a0<\/strong>5 mL<\/p>\n

\u0130\u015f prinsipi:<\/strong>\u00a0PZR<\/p>\n

Referens:\u00a0<\/strong>\u00a0Normal genotip e3\/e3<\/p>\n

\u0130stifad\u0259si:\u00a0<\/strong>Apo E genotipl\u0259ri III tip hi\u00adper\u00adlipoproteinemiya v\u0259 erk\u0259n koronar \u00fcr\u0259k x\u0259st\u0259liyinin inki\u015faf\u0131 il\u0259 \u0259laq\u0259\u00addar\u00add\u0131r. H\u0259m\u00e7inin e4 allelinin varl\u0131\u011f\u0131 Alzheimer x\u0259s\u0259liyi \u00fc\u00e7\u00fcn \u0259h\u0259miyy\u0259tli risk faktorudur<\/p>\n\r\n <\/div>\r\n <\/div>\r\n <\/section>

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AXONDROPLAZ\u0130YA (ACH) MUTAS\u0130YA ANAL\u0130Z\u0130<\/a><\/h2>\r\n
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Sinonim:\u00a0<\/strong>Nanizm (karlik);\u00a0<\/strong>FGFR3 gen analizi<\/p>\n

N\u00fcmun\u0259 n\u00f6v\u00fc:\u00a0<\/strong>EDTA-l\u0131 tam qan<\/p>\n

 <\/p>\n

N\u00fcmun\u0259 miqdar\u0131:\u00a0<\/strong>5ml<\/p>\n

Laz\u0131mi m\u0259lumatlar:\u00a0<\/strong>Ail\u0259 a\u011fac\u0131 v\u0259 \u0259trafl\u0131 ail\u0259 m\u0259lumatlar\u0131<\/p>\n

\u0130\u015f prinsipi:\u00a0<\/strong>PZR-REA<\/p>\n

N\u00fcmun\u0259d\u0259n imtina s\u0259b\u0259bl\u0259ri:\u00a0<\/strong>lax\u00adta\u00adlanm\u0131\u015f, hemoliz ba\u015f vermi\u015f n\u00fcmu\u00adn\u0259l\u0259r<\/p>\n

Referens:<\/strong><\/p>\n\n\n\n\n\n
N\/N<\/td>\n= Homoziqot normal<\/td>\n<\/tr>\n
Mt\/N<\/td>\n= Heteroziqot<\/td>\n<\/tr>\n
Mt\/Mt<\/td>\n= Homoziqot mutant<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

\u0130stifad\u0259si:\u00a0<\/strong>ACH, s\u00fcm\u00fck v\u0259 q\u0131\u011f\u0131rdaq toxumalar\u0131n\u0131n inki\u015faf poz\u011funlu\u011fu il\u0259 xarakteriz\u0259 olunur, b\u0259z\u0259n fatal n\u0259ti\u00adc\u0259l\u0259nir. Diaqnozu klinik v\u0259 radioloji m\u0259lumatlara \u0259sas\u0259n t\u0259yin edilir v\u0259 diaqnostikada yan\u0131lma ehtimal\u0131 az\u00add\u0131r. Q\u0131sa \u0259traflar, qabar\u0131q al\u0131n, \u00e7\u00f6k\u00fck burun k\u00f6k\u00fc v\u0259 genu varum (tibia va\u00adrum) bunun \u00fc\u00e7\u00fcn xarakterikdir. X\u0259s\u00adt\u0259\u00adliy\u0259 b\u00f6y\u00fcm\u0259 faktoru genl\u0259rind\u0259n bi\u00adri olan FGFR3-d\u0259 \u0259m\u0259l\u0259 g\u0259l\u0259n v\u0259 x\u0259st\u0259l\u0259rin t\u0259xmin\u0259n 95%-d\u0259 m\u00fc\u015fa\u00adhi\u00add\u0259 olunan mutasiya s\u0259b\u0259b olur. Ha\u00admil\u0259lik m\u00fcdd\u0259tind\u0259 apar\u0131lan ultraso\u00adnoqrafik m\u00fcayin\u0259l\u0259r zaman\u0131 d\u00f6l\u00fcn a\u015fa\u011f\u0131 \u0259traf\u0131n\u0131n q\u0131sa olmas\u0131, \u00e7\u00f6k\u0259lmi\u015f burun k\u00f6k\u00fc v\u0259 f\u0259q\u0259r\u0259 cismi, makro\u00adsefaliya kimi deformasiyalar\u0131n v\u0259 \u0259la\u00adm\u0259tl\u0259rin m\u00fc\u015fahid\u0259 olunmas\u0131 ACH \u015f\u00fcbh\u0259si yaradlr)<\/p>\n\r\n <\/div>\r\n <\/div>\r\n <\/section>

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BETA-TALASEM\u0130YA MUTAS\u0130YA ANAL\u0130Z\u0130<\/a><\/h2>\r\n
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Sinonim:\u00a0<\/strong>Cooley anemiyas\u0131 (major ta\u00adlasemiya); minor talasemiya (da\u015f\u0131\u00ady\u0131c\u0131l\u0131q), Aral\u0131q d\u0259nizi anemiyas\u0131;<\/p>\n

N\u00fcmun\u0259 n\u00f6v\u00fc:\u00a0<\/strong>EDTA-l\u0131 tam qan<\/p>\n

N\u00fcmun\u0259 qab\u0131:<\/strong>\u00a0B\u0259n\u00f6v\u015f\u0259yi qapaql\u0131 s\u0131naq \u015f\u00fc\u015f\u0259si<\/p>\n

N\u00fcmun\u0259 miqdar\u0131:<\/strong>\u00a05 mL<\/p>\n

Laz\u0131mi m\u0259lumatlar<\/strong>:<\/strong>\u00a0N\u0259sil \u015f\u0259c\u0259r\u0259si v\u0259 ail\u0259si bar\u0259d\u0259 \u0259trafl\u0131 m\u0259lumat, he\u00admoqlobin elektroforezi v\u0259 qan\u0131n \u00fcmu\u00admi analizinin n\u0259tic\u0259l\u0259ri<\/p>\n

\u0130\u015f prinsipi:<\/strong>\u00a0PZR<\/p>\n

N\u00fcmun\u0259d\u0259n imtina s\u0259b\u0259bl\u0259ri:\u00a0<\/strong>He\u00admoliz, laxtalanma, m\u00fcnasib s\u0131naq \u015f\u00fc\u00ad\u015f\u0259sin\u0259 qan al\u0131nmamas\u0131, n\u00fcmun\u0259nin plazma \u015f\u0259klind\u0259 g\u00f6nd\u0259rilm\u0259si<\/p>\n

\u0130stifad\u0259si:\u00a0<\/strong>Beta qlobulin geni \u00fcz\u0259\u00adrind\u0259 ba\u015f ver\u0259n v\u0259 beta talase\u00admi\u00adya\u00adn\u0131n inki\u015faf\u0131na s\u0259b\u0259b olan mutasiya\u00adlar\u0131n t\u0259yinind\u0259 istifad\u0259 olunur<\/p>\n\r\n <\/div>\r\n <\/div>\r\n <\/section>

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DUCHENNE \/ BECKER \u018fZ\u018fL\u018f D\u0130STROF\u0130YASI (DMD\/BMD) B\u0130RL\u018f\u015eM\u018f ANAL\u0130Z\u0130<\/a><\/h2>\r\n
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Sinonim:\u00a0<\/strong>Proqressiv \u0259z\u0259l\u0259\u00a0 distro\u00adfiyas\u0131 (P\u018fD)<\/p>\n

N\u00fcmun\u0259 n\u00f6v\u00fc:\u00a0<\/strong>EDTA-l\u0131 tam qan<\/p>\n

N\u00fcmun\u0259 qab\u0131:<\/strong>\u00a0B\u0259n\u00f6v\u015f\u0259yi qapaql\u0131 s\u0131naq \u015f\u00fc\u015f\u0259si<\/p>\n

N\u00fcmun\u0259 miqdar\u0131<\/strong>: 5 mL<\/p>\n

Laz\u0131mi m\u0259lumatlar:\u00a0<\/strong>N\u0259sil a\u011fac\u0131 v\u0259 ail\u0259 bar\u0259d\u0259 \u0259trafl\u0131 m\u0259lumatlar, CPK n\u0259tic\u0259l\u0259ri, delesiya analizinin n\u0259ti\u00adc\u0259l\u0259ri<\/p>\n

Ail\u0259 \u00fczvl\u0259ri:\u00a0<\/strong>Testin kimin \u00fc\u00e7\u00fcn ist\u0259\u00adnildiyind\u0259n as\u0131l\u0131 olaraq, apar\u0131lacaq t\u0259dqiqatlar \u00e7\u0259r\u00e7iv\u0259sind\u0259 hans\u0131 ail\u0259 f\u0259rdl\u0259rinin m\u00fcayin\u0259sin\u0259 ehtiyac ol\u00addu\u00ad\u00ad\u011fu n\u0259sil a\u011fac\u0131 ara\u015fd\u0131r\u0131ld\u0131qdan sonra q\u0259rar verilir<\/p>\n

\u0130\u015f prinsipi:<\/strong>\u00a0PCR-RFLP-VNTR<\/p>\n

N\u00fcmun\u0259d\u0259n imtina s\u0259b\u0259bl\u0259ri:\u00a0<\/strong>Hemoliz, laxta, material\u0131n uy\u011fun s\u0131naq \u015f\u00fc\u015f\u0259sin\u0259 al\u0131nmamas\u0131<\/p>\n

\u0130stifad\u0259si:\u00a0<\/strong>X\u0259st\u0259 f\u0259rdin anas\u0131ndan q\u0259bul etdiyi allel gen, ba\u011flant\u0131 ana\u00adlizi adland\u0131r\u0131lan dolay\u0131 (qeyri d\u00fcz) metod il\u0259 t\u0259yin olunur. Mutasiyas\u0131 a\u015fkar olunmam\u0131\u015f x\u0259st\u0259l\u0259rin ail\u0259sin\u0259 prenatal diaqnozun v\u0259\/v\u0259 ya da\u015f\u0131y\u0131c\u0131l\u0131\u011f\u0131n t\u0259yinind\u0259 k\u00f6m\u0259k etm\u0259k m\u0259qs\u0259dil\u0259 dolay\u0131 (qeyri d\u00fcz) metod t\u0259tbiq oluna bil\u0259r (Bax Duchenne \/ Becker \u0259z\u0259l\u0259 distrofiyasi delesiya\u00a0 analizi)<\/p>\n\r\n <\/div>\r\n <\/div>\r\n <\/section>

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DUCHENNE \/ BECKER \u018fZ\u018fL\u018f D\u0130STROF\u0130YASI (DMD\/BMD) DELES\u0130YA ANAL\u0130Z\u0130<\/a><\/h2>\r\n
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N\u00fcmun\u0259 n\u00f6v\u00fc:\u00a0<\/strong>EDTA-l\u0131 tam qan<\/p>\n

N\u00fcmun\u0259 qab\u0131:<\/strong>\u00a0B\u0259n\u00f6v\u015f\u0259yi qapaql\u0131 s\u0131naq \u015f\u00fc\u015f\u0259si<\/p>\n

N\u00fcmun\u0259 miqdar\u0131:<\/strong>\u00a05 mL<\/p>\n

Laz\u0131mi m\u0259lumatlar:<\/strong>\u00a0N\u0259sil a\u011fac\u0131 v\u0259 \u0259trafl\u0131 ail\u0259 m\u0259lumatlar\u0131, CPK n\u0259tic\u0259\u00adl\u0259ri, EMG v\u0259 \u0259z\u0259l\u0259 biopsiyas\u0131 n\u0259ti\u00adc\u0259l\u0259ri<\/p>\n

\u0130\u015f prinsipi:<\/strong>\u00a0Multipleks I v\u0259 Mul\u00adtipleks II amplifikasiya sisteml\u0259ri il\u0259 PZR v\u0259 birba\u015fa analiz.<\/p>\n

N\u00fcmun\u0259d\u0259n imtina s\u0259b\u0259bl\u0259ri:<\/strong>\u00a0He\u00admoliz, laxta, material\u0131n uy\u011fun s\u0131naq \u015f\u00fc\u015f\u0259sin\u0259 al\u0131nmamas\u0131<\/p>\n

\u0130stifad\u0259si:\u00a0<\/strong>DMD\/BMD \u0259z\u0259l\u0259 h\u00fc\u00adceyr\u0259l\u0259rinin proqressiv \u015f\u0259kild\u0259 m\u0259hv olmas\u0131na s\u0259b\u0259b olan irsi x\u0259st\u0259likdir. DMD, BMD-nin a\u011f\u0131r gedi\u015fli allelik formas\u0131d\u0131r v\u0259 BMD il\u0259 m\u00fcqayis\u0259d\u0259 daha \u00e7ox rast g\u0259linir. X xromosomu \u00fcz\u0259rind\u0259 olan distrofin genind\u0259 ba\u015f ver\u0259n mutasiyalarla \u0259laq\u0259dar oldu\u011fu \u00fc\u00e7\u00fcn o\u011flan u\u015faqlar\u0131nda m\u00fc\u015fahid\u0259 olunur. Delesiyalarda \u0259n \u00e7ox m\u00fc\u015fa\u00adhid\u0259 olunan (faktlar\u0131n 50-60 %-i) mutasiyalard\u0131r. X\u0259st\u0259liyin diaqnozu, klinik \u0259lam\u0259tl\u0259rl\u0259 yana\u015f\u0131 serumdak\u0131 y\u00fcks\u0259k CPK s\u0259viyy\u0259si, EMG v\u0259 \u0259z\u0259l\u0259 biopsiyas\u0131n\u0131n n\u0259tic\u0259l\u0259ri il\u0259 birlikd\u0259 m\u00fc\u0259yy\u0259n edilir<\/p>\n\r\n <\/div>\r\n <\/div>\r\n <\/section>

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FAKTOR V LE\u0130DEN MUTAS\u0130YA ANAL\u0130Z\u0130<\/a><\/h2>\r\n
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Sinonim:\u00a0<\/strong>FV-Leiden; FV \u00e7at\u0131\u015f\u00admazl\u0131\u011f\u0131; F5<\/p>\n

N\u00fcmun\u0259 n\u00f6v\u00fc:\u00a0<\/strong>EDTA-l\u0131 tam qan<\/p>\n

N\u00fcmun\u0259 qab\u0131:<\/strong>\u00a0B\u0259n\u00f6v\u015f\u0259yi qapaql\u0131 s\u0131naq \u015f\u00fc\u015f\u0259si<\/p>\n

N\u00fcmun\u0259 miqdar\u0131:<\/strong>\u00a05 mL<\/p>\n

Laz\u0131mi m\u0259lumatlar:\u00a0<\/strong>APC rezis\u00adtent\u00adliyi, Protein S v\u0259 Protein C n\u0259tic\u0259l\u0259ri<\/p>\n

Mutasiya:\u00a0<\/strong>FV geni 1691 G>A v\u0259 1090 A>G (Hong-Kong)<\/p>\n

undefined<\/p>\n

X\u0259st\u0259nin haz\u0131rlanmas\u0131:\u00a0<\/strong>X\u0259st\u0259nin heparin t\u0259rkibli d\u0259rmanlar q\u0259bul et\u00adm\u0259si DNT ekstraksiyas\u0131nda problem yarada bil\u0259r<\/p>\n

\u0130\u015f prinsipi:<\/strong>PZR-REA<\/p>\n

N\u00fcmun\u0259d\u0259n imtina s\u0259b\u0259bl\u0259ri:<\/strong>\u00a0Uy\u00ad\u011fun olmayan s\u0131naq \u015f\u00fc\u015f\u0259sin\u0259 qan al\u0131n\u00admas\u0131, laxtal\u0131, hemolizli n\u00fcmun\u0259l\u0259r<\/p>\n

Referens:<\/strong><\/p>\n\n\n\n\n\n
N\/N<\/td>\nHomoziqotnormal<\/td>\n<\/tr>\n
Mt\/N<\/td>\nHeteroziqot<\/td>\n<\/tr>\n
Mt\/Mt<\/td>\nHomoziqotmutant<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

\u0130stifad\u0259si<\/strong>: Aktiv protein C (APC), antikoaqulyant x\u00fcsusiyy\u0259t\u0259 malik se\u00adrin proteazad\u0131r. Normal hemostaz za\u00adman\u0131 APC, Va v\u0259 VIIIa\u00a0 faktorlar\u0131n proteolitik inaktivl\u0259\u015fm\u0259sini t\u0259min ed\u0259\u00adr\u0259k qan\u0131n laxtalanmas\u0131n\u0131 m\u0259h\u00addud\u00adla\u015fd\u0131r\u0131r. Tromboz x\u0259st\u0259l\u0259rini t\u0259x\u00admin\u0259n 50%-d\u0259, APC-nin antikoa\u00adqulyant cavab\u0131na qar\u015f\u0131 rezistentlik oldu\u011fu bildirilir (APC rezistentliyi). APC rezistentliyi fenotipinin, \u0259sas\u0259n V faktor genind\u0259 ba\u015f ver\u0259n n\u00f6qt\u0259vi mutasiya (1691 G>A substitusiyas\u0131; FVQ506) il\u0259 \u0259laq\u0259dar oldu\u011fu tap\u0131l\u00adm\u0131\u015fd\u0131r. V Leiden faktoru olaraq ad\u00adlan\u00add\u0131r\u0131lan v\u0259 bu mutasiyan\u0131 homo\u00adziqot v\u0259 ya heteroziqot formada da\u015f\u0131yan \u015f\u0259xsl\u0259rd\u0259 APC rezistentliyi il\u0259 \u0259laq\u0259li tromboz riskinin, muta\u00adsiyan\u0131 da\u015f\u0131mayan \u015f\u0259xsl\u0259rl\u0259 m\u00fcqa\u00adyis\u0259d\u0259 daha y\u00fcks\u0259k oldu\u011fu bildirilir<\/p>\n\r\n <\/div>\r\n <\/div>\r\n <\/section>

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FAM\u0130L\u0130AL (A\u0130L\u018fV\u0130) ARALIQ D\u018fN\u0130Z\u0130 QIZDIRMASI (FMF) MUTAS\u0130YA ANAL\u0130Z\u0130<\/a><\/h2>\r\n
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Sinonim:\u00a0<\/strong>MEFV, periodik x\u0259st\u0259lik, nevropatiyas\u0131z irsi ail\u0259vi amiloidoz, erm\u0259ni x\u0259st\u0259liyi<\/p>\n

N\u00fcmun\u0259 n\u00f6v\u00fc:\u00a0<\/strong>EDTA-l\u0131 tam qan<\/p>\n

N\u00fcmun\u0259 qab\u0131:<\/strong>\u00a0B\u0259n\u00f6v\u015f\u0259yi qapaql\u0131 s\u0131naq \u015f\u00fc\u015f\u0259si<\/p>\n

N\u00fcmun\u0259 miqdar\u0131:<\/strong>\u00a05 mL<\/p>\n

Ke\u00e7i\u015f formas\u0131:\u00a0<\/strong>Autosom resessiv<\/p>\n

Laz\u0131mi m\u0259lumatlar:\u00a0<\/strong>N\u0259sil a\u011fac\u0131 v\u0259 \u0259trafl\u0131 ail\u0259 m\u0259lumatlar\u0131<\/p>\n

\u0130\u015f prinsipi:\u00a0<\/strong>PZR-REA<\/p>\n

N\u00fcmun\u0259d\u0259n imtina s\u0259b\u0259bl\u0259ri:<\/strong>\u00a0He\u00admoliz, laxtalanma, uy\u011fun olmayan s\u0131naq \u015f\u00fc\u015f\u0259sin\u0259 qan al\u0131nmas\u0131<\/p>\n

\u0130stifad\u0259si:\u00a0<\/strong>FMF t\u0259krarlanan k\u0259s\u00adkin\u00adl\u0259\u015fm\u0259l\u0259rl\u0259, hipertermiyalar\u0131 m\u00fc\u015fayi\u0259t ed\u0259n qar\u0131n, d\u00f6\u015f q\u0259f\u0259si v\u0259 oynaq a\u011f\u00adr\u0131\u00adlar\u0131 il\u0259 \u00f6z\u00fcn\u00fc biruz\u0259 ver\u0259n irsi x\u0259s\u00adt\u0259\u00adlikdir. Bu test il\u0259 FMF-y\u0259 s\u0259b\u0259b olan b\u0259zi mutasiyalara bax\u0131l\u0131r<\/p>\n\r\n <\/div>\r\n <\/div>\r\n <\/section>

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FEN\u0130LKETONUR\u0130YA (PKU) MOLEKULYAR ANAL\u0130Z\u0130<\/a><\/h2>\r\n
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N\u00fcmun\u0259 n\u00f6v\u00fc:\u00a0<\/strong>EDTA-l\u0131 tam qan<\/p>\n

N\u00fcmun\u0259 qab\u0131:\u00a0<\/strong>B\u0259n\u00f6v\u015f\u0259yi qapaql\u0131 s\u0131naq \u015f\u00fc\u015f\u0259si<\/p>\n

N\u00fcmun\u0259 miqdar\u0131:<\/strong>\u00a05 mL<\/p>\n

Laz\u0131mi m\u0259lumatlar:<\/strong>\u00a0N\u0259sil a\u011fac\u0131 v\u0259 \u0259trafl\u0131 ail\u0259 m\u0259lumatlar\u0131, yenido\u00ad\u011fu\u00adlan\u0131n skrininq n\u0259tic\u0259l\u0259ri<\/p>\n

Ail\u0259 f\u0259rdl\u0259ri:<\/strong>\u00a0Testin kimin \u00fc\u00e7\u00fcn ist\u0259\u00adnildiyind\u0259n as\u0131l\u0131 olaraq, g\u00f6r\u00fc\u00adl\u0259\u00adc\u0259k i\u015f \u00e7\u0259r\u00e7iv\u0259sind\u0259 hans\u0131 ail\u0259 \u00fczv\u00adl\u0259rinin m\u00fcayin\u0259sin\u0259 ehtiyac oldu\u011fu n\u0259sil a\u011fac\u0131 ara\u015fd\u0131r\u0131ld\u0131qdan sonra q\u0259rar verilir<\/p>\n

\u0130\u015f prinsipi:<\/strong>\u00a0PZR-REA-RFLP<\/p>\n

N\u00fcmun\u0259d\u0259n imtina s\u0259b\u0259bl\u0259ri:<\/strong>\u00a0He\u00admoliz, laxtalanma, uy\u011fun olmayan s\u0131naq \u015f\u00fc\u015f\u0259sin\u0259 qan al\u0131nmas\u0131<\/p>\n

\u0130stifad\u0259si:\u00a0<\/strong>PKU, fenilalanin hidrok\u00adsilaza (PAH) fermentinin poz\u011fun\u00adlu\u011fu v\u0259 ya \u00e7at\u0131\u015fmazl\u0131\u011f\u0131 il\u0259 ba\u015f ver\u0259n irsi x\u0259st\u0259likdir. Autosom resessiv ke\u00ad\u00e7ir. PAH, fenilalanini tirozin\u0259 \u00e7e\u00advi\u00adrir. PAH \u00e7at\u0131\u015fmazl\u0131\u011f\u0131 v\u0259 ya funk\u00adsional poz\u011funlu\u011fu zaman\u0131 qanda fenilalanin toplan\u0131r ki, bu\u00a0 da beyin \u00fc\u00e7\u00fcn toksikdir. Do\u011fu\u015fdan sonrak\u0131 g\u00fcnl\u0259rd\u0259 skrininq testl\u0259rl\u0259 PKU t\u0259yin oluna bil\u0259r v\u0259 bu x\u0259st\u0259l\u0259r m\u00fcvafiq p\u0259hrizl\u0259 normal h\u0259yata davam ed\u0259 bil\u0259rl\u0259r. \u018fks halda ya\u015f \u00f6td\u00fckc\u0259, gerid\u00f6nm\u0259z \u0259qli v\u0259 ya nevroloji poz\u011funluqlar meydana \u00e7\u0131xa bil\u0259r. X\u0259st\u0259lik PAH genind\u0259 ba\u015f ver\u0259n mutasiyalarla \u0259laq\u0259dar \u0259m\u0259l\u0259 g\u0259lir. Bunun \u00fc\u00e7\u00fcn \u00fc\u00e7\u00fcn h\u0259m ana, h\u0259m d\u0259 ata mutant gen da\u015f\u0131y\u0131c\u0131s\u0131 olmal\u0131d\u0131r. Da\u015f\u0131y\u0131c\u0131 ana v\u0259 atadan olan u\u015faqlar\u0131n x\u0259st\u0259l\u0259nm\u0259 ehtimal\u0131 25%-dir. X\u0259st\u0259 \u015f\u0259xsin valideyinl\u0259rind\u0259n ald\u0131\u011f\u0131 allel genl\u0259r \u201cba\u011flant\u0131 analizi\u201d adland\u0131r\u0131lan dolay\u0131 metod il\u0259 t\u0259yin olunur. Muta\u00adsiyas\u0131 a\u015fkar olunmayan x\u0259st\u0259 ail\u0259\u00adl\u0259\u00adrin\u0259 prenatal diaqnoz v\u0259 ya da\u015f\u0131y\u0131\u00adc\u0131\u00adl\u0131\u011f\u0131n t\u0259yinind\u0259 k\u00f6m\u0259k etm\u0259k m\u0259q\u00ads\u0259\u00addil\u0259 dolay\u0131 analiz t\u0259tbiq oluna bil\u0259r<\/p>\n\r\n <\/div>\r\n <\/div>\r\n <\/section>

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FMF MUTAS\u0130YA ANAL\u0130Z\u0130 (FAM\u0130L\u0130AL (A\u0130L\u018fV\u0130) ARALIQ D\u018fN\u0130Z\u0130 QIZDIRMASI (FMF) MUTAS\u0130YA ANAL\u0130Z\u0130)<\/a><\/h2>\r\n
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Sinonim:\u00a0<\/strong>MEFV, periodik x\u0259st\u0259lik, nevropatiyas\u0131z irsi ail\u0259vi amiloidoz, erm\u0259ni x\u0259st\u0259liyi<\/p>\n

N\u00fcmun\u0259 n\u00f6v\u00fc:\u00a0<\/strong>EDTA-l\u0131 tam qan<\/p>\n

N\u00fcmun\u0259 qab\u0131:<\/strong>\u00a0B\u0259n\u00f6v\u015f\u0259yi qapaql\u0131 s\u0131naq \u015f\u00fc\u015f\u0259si<\/p>\n

N\u00fcmun\u0259 miqdar\u0131:<\/strong>\u00a05 mL<\/p>\n

Ke\u00e7i\u015f formas\u0131:\u00a0<\/strong>Autosom resessiv<\/p>\n

Laz\u0131mi m\u0259lumatlar:\u00a0<\/strong>N\u0259sil a\u011fac\u0131 v\u0259 \u0259trafl\u0131 ail\u0259 m\u0259lumatlar\u0131<\/p>\n

\u0130\u015f prinsipi:\u00a0<\/strong>PZR-REA<\/p>\n

N\u00fcmun\u0259d\u0259n imtina s\u0259b\u0259bl\u0259ri:<\/strong>\u00a0He\u00admoliz, laxtalanma, uy\u011fun olmayan s\u0131naq \u015f\u00fc\u015f\u0259sin\u0259 qan al\u0131nmas\u0131<\/p>\n

\u0130stifad\u0259si:\u00a0<\/strong>FMF t\u0259krarlanan k\u0259s\u00adkin\u00adl\u0259\u015fm\u0259l\u0259rl\u0259, hipertermiyalar\u0131 m\u00fc\u015fayi\u0259t ed\u0259n qar\u0131n, d\u00f6\u015f q\u0259f\u0259si v\u0259 oynaq a\u011f\u00adr\u0131\u00adlar\u0131 il\u0259 \u00f6z\u00fcn\u00fc biruz\u0259 ver\u0259n irsi x\u0259s\u00adt\u0259\u00adlikdir. Bu test il\u0259 FMF-y\u0259 s\u0259b\u0259b olan b\u0259zi mutasiyalara bax\u0131l\u0131r<\/p>\n\r\n <\/div>\r\n <\/div>\r\n <\/section>

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DUCHENNE \/ BECKER \u018fZ\u018fL\u018f D\u0130STROF\u0130YASI (DMD\/BMD) DELES\u0130YA ANAL\u0130Z\u0130<\/a><\/h2>\r\n
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N\u00fcmun\u0259 n\u00f6v\u00fc:\u00a0<\/strong>EDTA-l\u0131 tam qan<\/p>\n

N\u00fcmun\u0259 qab\u0131:<\/strong>\u00a0B\u0259n\u00f6v\u015f\u0259yi qapaql\u0131 s\u0131naq \u015f\u00fc\u015f\u0259si<\/p>\n

N\u00fcmun\u0259 miqdar\u0131:<\/strong>\u00a05 mL<\/p>\n

Laz\u0131mi m\u0259lumatlar:<\/strong>\u00a0N\u0259sil a\u011fac\u0131 v\u0259 \u0259trafl\u0131 ail\u0259 m\u0259lumatlar\u0131, CPK n\u0259tic\u0259\u00adl\u0259ri, EMG v\u0259 \u0259z\u0259l\u0259 biopsiyas\u0131 n\u0259ti\u00adc\u0259l\u0259ri<\/p>\n

\u0130\u015f prinsipi:<\/strong>\u00a0Multipleks I v\u0259 Mul\u00adtipleks II amplifikasiya sisteml\u0259ri il\u0259 PZR v\u0259 birba\u015fa analiz.<\/p>\n

N\u00fcmun\u0259d\u0259n imtina s\u0259b\u0259bl\u0259ri:<\/strong>\u00a0He\u00admoliz, laxta, material\u0131n uy\u011fun s\u0131naq \u015f\u00fc\u015f\u0259sin\u0259 al\u0131nmamas\u0131<\/p>\n

\u0130stifad\u0259si:\u00a0<\/strong>DMD\/BMD \u0259z\u0259l\u0259 h\u00fc\u00adceyr\u0259l\u0259rinin proqressiv \u015f\u0259kild\u0259 m\u0259hv olmas\u0131na s\u0259b\u0259b olan irsi x\u0259st\u0259likdir. DMD, BMD-nin a\u011f\u0131r gedi\u015fli allelik formas\u0131d\u0131r v\u0259 BMD il\u0259 m\u00fcqayis\u0259d\u0259 daha \u00e7ox rast g\u0259linir. X xromosomu \u00fcz\u0259rind\u0259 olan distrofin genind\u0259 ba\u015f ver\u0259n mutasiyalarla \u0259laq\u0259dar oldu\u011fu \u00fc\u00e7\u00fcn o\u011flan u\u015faqlar\u0131nda m\u00fc\u015fahid\u0259 olunur. Delesiyalarda \u0259n \u00e7ox m\u00fc\u015fa\u00adhid\u0259 olunan (faktlar\u0131n 50-60 %-i) mutasiyalard\u0131r. X\u0259st\u0259liyin diaqnozu, klinik \u0259lam\u0259tl\u0259rl\u0259 yana\u015f\u0131 serumdak\u0131 y\u00fcks\u0259k CPK s\u0259viyy\u0259si, EMG v\u0259 \u0259z\u0259l\u0259 biopsiyas\u0131n\u0131n n\u0259tic\u0259l\u0259ri il\u0259 birlikd\u0259 m\u00fc\u0259yy\u0259n edilir<\/p>\n\r\n <\/div>\r\n <\/div>\r\n <\/section>

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HEMOF\u0130L\u0130YA A \u0130NTRON 22 \u0130NVERS\u0130YA ANAL\u0130Z\u0130<\/a><\/h2>\r\n
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N\u00fcmun\u0259 n\u00f6v\u00fc:\u00a0<\/strong>EDTA-l\u0131 tam qan<\/p>\n

N\u00fcmun\u0259 qab\u0131:<\/strong>\u00a0B\u0259n\u00f6v\u015f\u0259yi qapaql\u0131 s\u0131naq \u015f\u00fc\u015f\u0259si<\/p>\n

N\u00fcmun\u0259 miqdar\u0131:\u00a0<\/strong>5 mL<\/p>\n

Laz\u0131mi m\u0259lumatlar:<\/strong>\u00a0N\u0259sil a\u011fac\u0131 v\u0259 \u0259trafl\u0131 ail\u0259 m\u0259lumatlar\u0131, VIII fak\u00adto\u00adrun s\u0259viyy\u0259si<\/p>\n

\u0130\u015f prinsipi:<\/strong>\u00a0PZR<\/p>\n

N\u00fcmun\u0259d\u0259n imtina s\u0259b\u0259bl\u0259ri:<\/strong>\u00a0He\u00admoliz, laxta, uy\u011fun olmayan s\u0131naq \u015f\u00fc\u015f\u0259sin\u0259 qan al\u0131nmas\u0131<\/p>\n

\u0130stifad\u0259si:<\/strong>\u00a0Hemofiliya A, VIII fak\u00adto\u00adrun \u00e7at\u0131\u015fmazl\u0131\u011f\u0131 il\u0259 \u0259laq\u0259dar hemor\u00adra\u00adgik x\u0259st\u0259likdir. X il\u0259 \u0259laq\u0259li re\u00adses\u00adsiv irsilik n\u00fcmayi\u015f etdirir. X xromo\u00adso\u00admu \u00fcz\u0259rind\u0259 olan FVIII genind\u0259 ba\u015f ver\u0259n mutasiyalarla \u0259laq\u0259li oldu\u00ad\u011fu \u00fc\u00e7\u00fcn o\u011flan u\u015faqlar\u0131nda m\u00fc\u015fahid\u0259 edilir<\/p>\n\r\n <\/div>\r\n <\/div>\r\n <\/section>

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HEMOF\u0130L\u0130YA A \u018fLAQ\u018f ANAL\u0130Z\u0130<\/a><\/h2>\r\n
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N\u00fcmun\u0259 n\u00f6v\u00fc:\u00a0<\/strong>EDTA-l\u0131 tam qan<\/p>\n

N\u00fcmun\u0259 qab\u0131:<\/strong>\u00a0B\u0259n\u00f6v\u015f\u0259yi qapaql\u0131 s\u0131naq \u015f\u00fc\u015f\u0259si<\/p>\n

N\u00fcmun\u0259 miqdar\u0131:\u00a0<\/strong>5 mL<\/p>\n

Laz\u0131mi m\u0259lumatlar:<\/strong>\u00a0N\u0259sil a\u011fac\u0131 v\u0259 \u0259trafl\u0131 ail\u0259 m\u0259lumatlar\u0131, VIII fak\u00adtorun s\u0259viyy\u0259si<\/p>\n

Ail\u0259 \u00fczvl\u0259ri:\u00a0<\/strong>Testin hans\u0131 \u015f\u0259xs \u00fc\u00e7\u00fcn ist\u0259nildiyind\u0259n as\u0131l\u0131 olaraq, apar\u0131\u00adla\u00adcaq t\u0259dqiqatlar \u00e7\u0259r\u00e7iv\u0259sind\u0259 ail\u0259 \u00fczv\u00adl\u0259rind\u0259n kiml\u0259rin analiz\u0259 c\u0259lb oluna\u00adca\u011f\u0131na n\u0259sil a\u011fac\u0131 ara\u015fd\u0131r\u0131ld\u0131qdan sonra q\u0259rar verilir<\/p>\n

\u0130\u015f prinsipi:\u00a0<\/strong>PZR-RFLP-VNTR<\/p>\n

N\u00fcmun\u0259d\u0259n imtina s\u0259b\u0259bl\u0259ri:<\/strong>\u00a0He\u00admo\u00adliz, laxta, uy\u011fun olmayan s\u0131naq \u015f\u00fc\u00ad\u015f\u0259sin\u0259 qan al\u0131nmas\u0131<\/p>\n

\u0130stifad\u0259si:\u00a0<\/strong>X\u0259st\u0259nin anas\u0131ndan ald\u0131\u011f\u0131 allel, \u0259laq\u0259 analizi deyil\u0259n dolay\u0131 metod il\u0259 t\u0259yin olunur. Mutasiyas\u0131 t\u0259yin olunmam\u0131\u015f x\u0259st\u0259 ail\u0259l\u0259rin\u0259 pre\u00adnatal diaqnoz v\u0259 \/va ya da\u015f\u0131y\u0131c\u0131l\u0131q diaqnozuna k\u00f6m\u0259k m\u0259qs\u0259di il\u0259 do\u00adla\u00ady\u0131 analiz t\u0259tbiq oluna bil\u0259r. (Bax He\u00admofiliya A intron 22 inversiya ana\u00adlizi)<\/p>\n\r\n <\/div>\r\n <\/div>\r\n <\/section>

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HEMOF\u0130L\u0130YA B \u018fLAQ\u018f ANAL\u0130Z\u0130<\/a><\/h2>\r\n
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N\u00fcmun\u0259 n\u00f6v\u00fc:\u00a0<\/strong>EDTA-l\u0131 tam qan<\/p>\n

N\u00fcmun\u0259 qab\u0131:<\/strong>\u00a0B\u0259n\u00f6v\u015f\u0259yi qapaql\u0131 s\u0131naq \u015f\u00fc\u015f\u0259si<\/p>\n

N\u00fcmun\u0259 miqdar\u0131:\u00a0<\/strong>5 mL<\/p>\n

Laz\u0131mi m\u0259lumatlar:<\/strong>\u00a0N\u0259sil a\u011fac\u0131 v\u0259 \u0259trafl\u0131 ail\u0259 m\u0259lumatlar\u0131, IX faktorun s\u0259viyy\u0259si<\/p>\n

Ail\u0259 \u00fczvl\u0259ri:\u00a0<\/strong>Testin hans\u0131 \u015f\u0259xs \u00fc\u00e7\u00fcn ist\u0259nildiyind\u0259n as\u0131l\u0131 olaraq, apar\u0131\u00adla\u00adcaq t\u0259dqiqatlar \u00e7\u0259r\u00e7iv\u0259sind\u0259 ail\u0259 \u00fczv\u00adl\u0259rind\u0259n kiml\u0259rin analiz\u0259 c\u0259lb oluna\u00adca\u011f\u0131na n\u0259sil a\u011fac\u0131 ara\u015fd\u0131r\u0131ld\u0131qdan sonra q\u0259rar verilir<\/p>\n

\u0130\u015f prinsipi:<\/strong>\u00a0PZR-RFLP-VNTR<\/p>\n

N\u00fcmun\u0259d\u0259n imtina s\u0259b\u0259bl\u0259ri:<\/strong>\u00a0He\u00admoliz, laxta, uy\u011fun olmayan s\u0131naq \u015f\u00fc\u015f\u0259sin\u0259 qan al\u0131nmas\u0131<\/p>\n

\u0130stifad\u0259si:<\/strong>\u00a0Hemofiliya B, IX fak\u00adto\u00adrun \u00e7at\u0131\u015fmazl\u0131\u011f\u0131 il\u0259 \u0259laq\u0259li hemor\u00adra\u00adgik x\u0259st\u0259likdir. X il\u0259 \u0259laq\u0259li resessiv irsilik n\u00fcmayi\u015f etdirir. Rast g\u0259lm\u0259 tez\u00adliyi hemofiliya A-ya nisb\u0259t\u0259n daha azd\u0131r. X\u0259st\u0259lik X xromosomu \u00fcz\u0259rind\u0259 olan IX faktor genind\u0259 ba\u015f ver\u0259n mutasiyalarla \u0259laq\u0259li oldu\u011fu \u00fc\u00e7\u00fcn o\u011flan u\u015faqlar\u0131nda m\u00fc\u015fahid\u0259 edi\u00adlir. X\u0259st\u0259nin anas\u0131ndan ald\u0131\u011f\u0131 allel, ba\u011flant\u0131 analizi deyil\u0259n dolay\u0131 metod il\u0259 t\u0259yin olunur. Mutasiyas\u0131 t\u0259yin olunmu\u015f x\u0259st\u0259 ail\u0259l\u0259rin\u0259 pre\u00adnatal diaqnoz v\u0259\/v\u0259 ya da\u015f\u0131y\u0131c\u0131l\u0131q di\u00adaq\u00adnozuna k\u00f6m\u0259k m\u0259qs\u0259di il\u0259 dolay\u0131 analiz t\u0259tbiq oluna bil\u0259r. (Bax He\u00admo\u00adfiliya A intron 22 inversiya ana\u00adlizi)<\/p>\n\r\n <\/div>\r\n <\/div>\r\n <\/section>

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HEMOQLOB\u0130N S MUTAS\u0130YA ANAL\u0130Z\u0130<\/a><\/h2>\r\n
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N\u00fcmun\u0259 n\u00f6v\u00fc:\u00a0<\/strong>EDTA-l\u0131 tam qan<\/p>\n

N\u00fcmun\u0259 qab\u0131:<\/strong>\u00a0Q\u0131rm\u0131z\u0131 qapaql\u0131 s\u0131\u00adnaq \u015f\u00fc\u015f\u0259si<\/p>\n

N\u00fcmun\u0259 miqdar\u0131:\u00a0<\/strong>5 mL<\/p>\n

\u0130\u015f prinsipi:<\/strong>\u00a0PZR<\/p>\n\r\n <\/div>\r\n <\/div>\r\n <\/section>

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HEPAT\u0130T B V\u0130RUSU YMDD MUTAS\u0130YA ANAL\u0130Z\u0130<\/a><\/h2>\r\n
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Sinonim:\u00a0<\/strong>HBV YMDD mutasiya analizi<\/p>\n

N\u00fcmun\u0259 n\u00f6v\u00fc:\u00a0<\/strong>Serum<\/p>\n

N\u00fcmun\u0259 qab\u0131:<\/strong>\u00a0Q\u0131rm\u0131z\u0131 qapaql\u0131 s\u0131\u00adnaq \u015f\u00fc\u015f\u0259si<\/p>\n

N\u00fcmun\u0259 miqdar\u0131:<\/strong>1 mL<\/p>\n

Testin t\u0259rkibi:<\/strong>\u00a0YMDD v\u0259 YVDD mutasiyalar\u0131<\/p>\n

\u0130\u015f prinsipi:\u00a0<\/strong>PZR \/ RFLP<\/p>\n

N\u00fcmun\u0259d\u0259n imtina s\u0259b\u0259bl\u0259ri:<\/strong>\u00a0H\u0259d\u00add\u0259n art\u0131q hemoliz, lipemiya, sar\u0131l\u0131q<\/p>\n

\u0130stifad\u0259si:<\/strong>\u00a0xroniki hepatit B infek\u00adsiyas\u0131n\u0131n Lamivudin il\u0259 m\u00fcalic\u0259sinin m\u00fc\u015fahid\u0259sind\u0259 istifad\u0259 olunr. Bu mu\u00adtasiyan\u0131 da\u015f\u0131yan x\u0259st\u0259l\u0259r Lami\u00advudin\u0259 rezistentdir<\/p>\n\r\n <\/div>\r\n <\/div>\r\n <\/section>

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H\u0130POXONDROPLAZ\u0130YA (HCH) MUTAS\u0130YA ANAL\u0130Z\u0130<\/a><\/h2>\r\n
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N\u00fcmun\u0259 n\u00f6v\u00fc:\u00a0<\/strong>EDTA-l\u0131 tam qan<\/p>\n

N\u00fcmun\u0259 qab\u0131:<\/strong>\u00a0B\u0259n\u00f6v\u015f\u0259yi qapaql\u0131 s\u0131naq \u015f\u00fc\u015f\u0259si<\/p>\n

N\u00fcmun\u0259 miqdar\u0131:<\/strong>5 mL<\/p>\n

Laz\u0131mi m\u0259lumatlar:<\/strong>\u00a0N\u0259sil a\u011fac\u0131 v\u0259 ail\u0259 bar\u0259d\u0259 \u0259trafl\u0131 m\u0259lumatlar<\/p>\n

\u0130\u015f prinsipi:\u00a0<\/strong>PZR-REA<\/p>\n

N\u00fcmun\u0259d\u0259n imtina s\u0259b\u0259bl\u0259ri:<\/strong>\u00a0He\u00admoliz, laxtalanma, uy\u011fun olmayan s\u0131naq \u015f\u00fc\u015f\u0259sin\u0259 qan al\u0131nmas\u0131<\/p>\n

\u0130stifad\u0259si:\u00a0<\/strong>Bu xondrodistrofiya, axon\u00ad\u00addro\u00adplaziyan\u0131n allelik formas\u0131d\u0131r. Radioloji v\u0259 klinik \u0259lam\u0259tl\u0259r say\u0259\u00adsind\u0259 axondroplaziyadan f\u0259rql\u0259n\u00addi\u00adril\u0259 bil\u0259r. Autosom dominant ke\u00e7di\u00adyind\u0259n da\u015f\u0131y\u0131c\u0131l\u0131q m\u00fc\u015fahid\u0259 olun\u00admur, birba\u015fa x\u0259st\u0259lik fenotipin\u0259 rast g\u0259linir<\/p>\n\r\n <\/div>\r\n <\/div>\r\n <\/section>

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HLA-B27<\/a><\/h2>\r\n
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N\u00fcmun\u0259 n\u00f6v\u00fc:\u00a0<\/strong>EDTA-l\u0131 v\u0259 ya he\u00adparinli tam qan<\/p>\n

N\u00fcmun\u0259 qab\u0131:<\/strong>\u00a0B\u0259n\u00f6v\u015f\u0259yi (EDTA-l\u0131) v\u0259 ya ya\u015f\u0131l (heparinli) qapaql\u0131 s\u0131\u00adnaq \u015f\u00fc\u015f\u0259si<\/p>\n

N\u00fcmun\u0259 miqdar\u0131:\u00a0<\/strong>5 mL<\/p>\n

\u0130\u015f prinsipi:\u00a0<\/strong>Flow cytometry<\/p>\n

N\u00fcmun\u0259d\u0259n imtina s\u0259b\u0259bl\u0259ri:<\/strong>\u00a0Lax\u00adtalanm\u0131\u015f, uzun m\u00fcdd\u0259t saxla\u00adn\u0131lm\u0131\u015f v\u0259 dondurulmu\u015f n\u00fcmun\u0259l\u0259r<\/p>\n

\u0130stifad\u0259si:<\/strong>\u00a0Ankilozla\u015fan spondilitli x\u0259s\u00adt\u0259l\u0259rin 90%-d\u0259n \u00e7oxunda HLA-B27 pozitiv olur. Normal popul\u00adya\u00adsiyan\u0131n is\u0259 c\u0259mi 5-10%-d\u0259 HLA-B27 pozitivliyin\u0259 rast g\u0259linir. H\u0259m\u00e7inin Reiter sindromu, \u00f6n uveit, psoriatik artrit v\u0259 ba\u011f\u0131rsaqlar\u0131n iltihabi x\u0259st\u0259\u00adlikl\u0259rind\u0259 d\u0259 HLA-B27 pozitiv\u00adli\u00adyi\u00adnin rastg\u0259lm\u0259 tezliyi y\u00fcks\u0259kdir<\/p>\n\r\n <\/div>\r\n <\/div>\r\n <\/section>

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HLA-B7<\/a><\/h2>\r\n
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N\u00fcmun\u0259 n\u00f6v\u00fc:\u00a0<\/strong>EDTA-l\u0131 v\u0259 ya heparili tam qan<\/p>\n

N\u00fcmun\u0259 qab\u0131:<\/strong>\u00a0B\u0259n\u00f6v\u015f\u0259yi (EDTA-l\u0131) v\u0259 ya ya\u015f\u0131l (heparinli) qapaql\u0131 s\u0131naq \u015f\u00fc\u015f\u0259si<\/p>\n

N\u00fcmun\u0259 miqdar\u0131:\u00a0<\/strong>5 mL<\/p>\n

\u0130\u015f prinsipi:\u00a0<\/strong>Flow cytometry<\/p>\n

N\u00fcmun\u0259d\u0259n imtina s\u0259b\u0259bl\u0259ri:<\/strong>\u00a0Lax\u00adtalanm\u0131\u015f, uzun m\u00fcdd\u0259t saxlan\u0131lm\u0131\u015f v\u0259 dondurulmu\u015f n\u00fcmun\u0259l\u0259r<\/p>\n

\u0130stifad\u0259si:\u00a0<\/strong>HLA toxuma qrupunun t\u0259yinind\u0259 istifad\u0259 olunur<\/p>\n\r\n <\/div>\r\n <\/div>\r\n <\/section>

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HLA-DR<\/a><\/h2>\r\n
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N\u00fcmun\u0259 n\u00f6v\u00fc:\u00a0<\/strong>EDTA-l\u0131\u00a0v\u0259 ya heparinli tam qan<\/p>\n

N\u00fcmun\u0259 qab\u0131:\u00a0<\/strong>B\u0259n\u00f6v\u015f\u0259yi (EDTA-l\u0131) v\u0259 ya ya\u015f\u0131l (heparinli) qapaql\u0131 s\u0131naq \u015f\u00fc\u015f\u0259si<\/p>\n

N\u00fcmun\u0259 miqdar\u0131:\u00a0<\/strong>5 mL<\/p>\n

\u0130\u015f prinsipi:<\/strong>\u00a0Flow cytometry<\/p>\n

N\u00fcmun\u0259d\u0259n imtina s\u0259b\u0259bl\u0259ri:<\/strong>\u00a0Lax\u00adtalanm\u0131\u015f, uzun m\u00fcdd\u0259t saxlan\u0131lm\u0131\u015f v\u0259 dondurulmu\u015f n\u00fcmun\u0259l\u0259r<\/p>\n

\u0130stifad\u0259si:<\/strong>\u00a0HLA-DR antigenl\u0259ri pem\u00adfigus vulgaris, dermatitis herpe\u00adtiformes v\u0259 I tip diabetd\u0259 rast g\u0259linir<\/p>\n\r\n <\/div>\r\n <\/div>\r\n <\/section>

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\u0130MMUNFENOT\u0130PL\u018fND\u0130RM\u018f PANEL\u0130<\/a><\/h2>\r\n
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Sinonim:<\/strong>\u00a0Leykemiya paneli<\/p>\n

N\u00fcmun\u0259 n\u00f6v\u00fc:\u00a0<\/strong>EDTA-l\u0131 v\u0259 ya he\u00adpa\u00adrinli tam qan, EDTA-l\u0131 v\u0259 ya he\u00adpa\u00adrinli s\u00fcm\u00fck iliyi, t\u0259z\u0259 limfa d\u00fc\u00ady\u00fcn\u00fc, BOM, bronxoalveolyar lavaj mayesi, t\u0259z\u0259 dalaq toxumas\u0131, k\u00f6k h\u00fcceyr\u0259<\/p>\n

N\u00fcmun\u0259 qab\u0131:<\/strong>\u00a0B\u0259n\u00f6v\u015f\u0259yi (EDTA-l\u0131) v\u0259 ya ya\u015f\u0131l (heparinli) qapaql\u0131 s\u0131\u00adnaq \u015f\u00fc\u015f\u0259si, gelsiz d\u00fcz s\u0131naq \u015f\u00fc\u015f\u0259si (maye)<\/p>\n

N\u00fcmun\u0259 miqdar\u0131:<\/strong>\u00a0Periferik qan v\u0259 s\u00fcm\u00fck iliyi (5 mL), BOM, bronxo\u00adal\u00adveolyar lavaj mayesi, orqanizm mayel\u0259ri (10 mL)<\/p>\n

Testin t\u0259rkibi:\u00a0<\/strong>Bax\u0131lan monoklo\u00adnal\u00adlar\u0131n \u0259hat\u0259si \u0259lav\u0259 H-da verilmi\u015fdir<\/p>\n

Lazimi m\u0259lumatlar:\u00a0<\/strong>X\u0259st\u0259 haq\u00adq\u0131nda klinik m\u0259lumat, h\u0259kiminin ad\u0131 v\u0259 telefonu bildirilm\u0259lidir<\/p>\n

\u0130\u015f prinsipi:<\/strong>\u00a0Flow cytometry<\/p>\n

N\u00fcmun\u0259d\u0259n imtina s\u0259b\u0259bl\u0259ri:\u00a0<\/strong>Lax\u00adtal\u0131 n\u00fcm\u00fcn\u0259l\u0259r, h\u00fcceyr\u0259 miqdar\u0131 v\u0259 h\u0259yatilik qabiliyy\u0259tinin azl\u0131\u011f\u0131<\/p>\n

\u0130stifad\u0259si:\u00a0<\/strong>Limfomalar\u0131n tipl\u0259n\u00addiril\u00adm\u0259sind\u0259 istifad\u0259 olunur. Standart pa\u00adneld\u0259n ba\u015fqa \u0259lav\u0259 monoklonallar\u0131n t\u0259yini laz\u0131md\u0131rsa bildirilm\u0259lidir<\/p>\n\r\n <\/div>\r\n <\/div>\r\n <\/section>

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K\u0130ST\u0130K F\u0130BROZ (CF) BA\u011eLANTI ANAL\u0130Z\u0130<\/a><\/h2>\r\n
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Sinonim:<\/strong>\u00a0CF; CFTR<\/p>\n

N\u00fcmun\u0259 n\u00f6v\u00fc:\u00a0<\/strong>EDTA-l\u0131 tam qan<\/p>\n

N\u00fcmun\u0259 qab\u0131:<\/strong>\u00a0B\u0259n\u00f6v\u015f\u0259yi qapaql\u0131 s\u0131naq \u015f\u00fc\u015f\u0259si<\/p>\n

N\u00fcmun\u0259 miqdar\u0131:\u00a0<\/strong>5 mL<\/p>\n

Laz\u0131mi m\u0259lumatlar:\u00a0<\/strong>N\u0259sil a\u011fac\u0131 v\u0259 \u0259trafl\u0259 ail\u0259 m\u0259lumatlar\u0131, t\u0259r m\u00fcayi\u00adn\u0259sinin n\u0259tic\u0259l\u0259ri<\/p>\n

Ail\u0259 \u00fczvl\u0259ri:\u00a0<\/strong>Testin kimin \u00fc\u00e7\u00fcn is\u00adt\u0259nildiyind\u0259n as\u0131l\u0131 olaraq, apar\u0131lacaq \u00e7al\u0131\u015fma \u00e7\u0259r\u00e7iv\u0259sind\u0259 hans\u0131 ail\u0259 \u00fczv\u00adl\u0259rinin analiz olunmas\u0131n\u0131n laz\u0131m g\u0259ldiyin\u0259 n\u0259sil a\u011fac\u0131 ara\u015fd\u0131r\u0131ld\u0131qdan sonra q\u0259rar verilir<\/p>\n

\u0130\u015f prinsipi:\u00a0<\/strong>PCR-RFLP-VNTR<\/p>\n

N\u00fcmun\u0259d\u0259n imtina s\u0259b\u0259bl\u0259ri:<\/strong>\u00a0Hemoliz, laxta, uy\u011fun olmayan s\u0131naq \u015f\u00fc\u015f\u0259sind\u0259 qan al\u0131nmas\u0131<\/p>\n

\u0130stifad\u0259si:\u00a0<\/strong>CF diaqnozu klinik v\u0259 laborator m\u00fcayin\u0259l\u0259rl\u0259 d\u0259qiql\u0259\u015f\u00addik\u00add\u0259, mutasiyan\u0131n t\u0259yin oluna bilm\u0259\u00addiyi hallarda, x\u0259st\u0259nin anas\u0131ndan v\u0259 atas\u0131ndan ald\u0131\u011f\u0131 allell\u0259r, ba\u011flant\u0131 analizi deyil\u0259n dolay\u0131 metod il\u0259 t\u0259yin olunur (BaxKistik fibroz (CF) mu\u00adtasiya analizi)<\/p>\n\r\n <\/div>\r\n <\/div>\r\n <\/section>

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K\u0130ST\u0130K F\u0130BROZ (CF) MUTAS\u0130YA ANAL\u0130Z\u0130<\/a><\/h2>\r\n
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Sinonim:<\/strong>\u00a0CF; CFTR<\/p>\n

N\u00fcmun\u0259 n\u00f6v\u00fc:\u00a0<\/strong>EDTA-l\u0131 tam qan<\/p>\n

N\u00fcmun\u0259 qab\u0131:<\/strong>\u00a0B\u0259n\u00f6v\u015f\u0259yi qapaql\u0131 s\u0131naq \u015f\u00fc\u015f\u0259si<\/p>\n

N\u00fcmun\u0259 miqdar\u0131:<\/strong>\u00a05 mL<\/p>\n

Laz\u0131mi m\u0259lumatlar:\u00a0<\/strong>N\u0259sil a\u011fac\u0131 v\u0259 \u0259trafl\u0259 ail\u0259 m\u0259lumatlar\u0131, t\u0259r m\u00fcayi\u00adn\u0259sinin n\u0259tic\u0259l\u0259ri<\/p>\n

Ail\u0259 \u00fczvl\u0259ri:<\/strong>\u00a0Testin kimin \u00fc\u00e7\u00fcn ist\u0259\u00adnildiyind\u0259n as\u0131l\u0131 olaraq, apar\u0131lacaq \u00e7al\u0131\u015fma \u00e7\u0259r\u00e7iv\u0259sind\u0259 hans\u0131 ail\u0259 \u00fczvl\u0259rinin analiz olunmas\u0131n\u0131n laz\u0131m g\u0259ldiyin\u0259 n\u0259sil a\u011fac\u0131 ara\u015fd\u0131r\u0131ld\u0131qdan sonra q\u0259rar verilir<\/p>\n

\u0130\u015f prinsipi:<\/strong>\u00a0PCR-REA-HD-ASO<\/p>\n

N\u00fcmun\u0259d\u0259n imtina s\u0259b\u0259bl\u0259ri:<\/strong>\u00a0Hemoliz, laxta, uy\u011fun olmayan s\u0131naq \u015f\u00fc\u015f\u0259sind\u0259 qan al\u0131nmas\u0131<\/p>\n

\u0130stifad\u0259si:\u00a0<\/strong>X\u0259st\u0259d\u0259 kistik fibrozis\u0259 s\u0259b\u0259b olan mutasiyan\u0131 t\u0259yin edir. (Bax\u0131lan mutasiyalar\u0131n siyah\u0131s\u0131 \u00fc\u00e7\u00fcn Bax\u018flav\u0259 G)<\/p>\n\r\n <\/div>\r\n <\/div>\r\n <\/section>

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MET\u0130LENTETRAH\u0130DROFOLAT REDUKTAZA MUTAS\u0130YA ANAL\u0130Z\u0130 (MTHFR MUTAS\u0130YA ANAL\u0130Z\u0130 C677T V\u018f AL298C)<\/a><\/h2>\r\n
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Sinonim:<\/strong>\u00a0Metilentetrahidrofolat re\u00adduk\u00adtaza fermentinin \u00e7at\u0131\u015fmazl\u0131\u011f\u0131 il\u0259 \u0259laq\u0259li homosistinuriya; MTHFR \u00e7at\u0131\u015fmazl\u0131\u011f\u0131<\/p>\n

N\u00fcmun\u0259 n\u00f6v\u00fc:\u00a0<\/strong>EDTA-l\u0131 tam qan<\/p>\n

N\u00fcmun\u0259 qab\u0131:<\/strong>\u00a0B\u0259n\u00f6v\u015f\u0259yi qapaql\u0131 s\u0131naq \u015f\u00fc\u015f\u0259si<\/p>\n

N\u00fcmun\u0259 miqdar\u0131:<\/strong>\u00a05mL<\/p>\n

\u0130stifad\u0259 \u015f\u0259kli:\u00a0<\/strong>Autosom resessiv<\/p>\n

\u0130\u015f prinsipi:<\/strong>\u00a0PCR-REA<\/p>\n

N\u00fcmun\u0259d\u0259n imtina s\u0259b\u0259bl\u0259ri:<\/strong>\u00a0He\u00admoliz, laxta, qan\u0131n uy\u011fun olmayan s\u0131naq \u015f\u00fc\u015f\u0259sin\u0259 al\u0131nmas\u0131<\/p>\n

Referens:<\/strong><\/p>\n\n\n\n\n\n
N\/N<\/td>\n= Homoziqot normal<\/td>\n<\/tr>\n
Mt\/N<\/td>\n= Heteroziqot<\/td>\n<\/tr>\n
Mt\/Mt<\/td>\n= Homoziqot mutant<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

\u0130stifad\u0259si:<\/strong>\u00a0Erk\u0259n ya\u015flarda ate\u00adrosklerotik vaskulyar x\u0259st\u0259lik v\u0259 ya tromboz anamnezi olan x\u0259st\u0259l\u0259rin MTHFR gen mutasiya analizind\u0259n ke\u00e7m\u0259l\u0259ri m\u0259sl\u0259h\u0259t g\u00f6r\u00fcl\u00fcr. MTHFR genind\u0259ki C677T v\u0259 A1298C muta\u00adsi\u00adyalar\u0131 ferment aktivliyinin z\u0259ifl\u0259\u00adm\u0259sin\u0259 s\u0259b\u0259b olur. C677T muta\u00adsiyas\u0131na \u0259hali aras\u0131nda s\u0131x rastlan\u0131r v\u0259 bu mutasiyan\u0131 homoziqot kimi da\u00ad\u015f\u0131yanlarda plazmada homosistein s\u0259viyy\u0259si v\u0259 bu s\u0259b\u0259bd\u0259n kardiovas\u00adkulyar x\u0259st\u0259lik v\u0259 venoz tromboz riski y\u00fcks\u0259k olur. Qeyd etm\u0259k laz\u0131md\u0131r ki, bu x\u0259stl\u0259l\u0259r fol tur\u015fusu il\u0259 m\u00fcalic\u0259y\u0259 yax\u015f\u0131 cavab verir<\/p>\n\r\n <\/div>\r\n <\/div>\r\n <\/section>

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MTHFR MUTAS\u0130YA ANAL\u0130Z\u0130 C677T V\u018f AL298C<\/a><\/h2>\r\n
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Sinonim:<\/strong>\u00a0Metilentetrahidrofolat re\u00adduk\u00adtaza fermentinin \u00e7at\u0131\u015fmazl\u0131\u011f\u0131 il\u0259 \u0259laq\u0259li homosistinuriya; MTHFR \u00e7at\u0131\u015fmazl\u0131\u011f\u0131<\/p>\n

N\u00fcmun\u0259 n\u00f6v\u00fc:\u00a0<\/strong>EDTA-l\u0131 tam qan<\/p>\n

N\u00fcmun\u0259 qab\u0131:<\/strong>\u00a0B\u0259n\u00f6v\u015f\u0259yi qapaql\u0131 s\u0131naq \u015f\u00fc\u015f\u0259si<\/p>\n

N\u00fcmun\u0259 miqdar\u0131:<\/strong>\u00a05mL<\/p>\n

\u0130stifad\u0259 \u015f\u0259kli:\u00a0<\/strong>Autosom resessiv<\/p>\n

\u0130\u015f prinsipi:<\/strong>\u00a0PCR-REA<\/p>\n

N\u00fcmun\u0259d\u0259n imtina s\u0259b\u0259bl\u0259ri:<\/strong>\u00a0He\u00admoliz, laxta, qan\u0131n uy\u011fun olmayan s\u0131naq \u015f\u00fc\u015f\u0259sin\u0259 al\u0131nmas\u0131<\/p>\n

Referens:<\/strong><\/p>\n\n\n\n\n\n
N\/N<\/td>\n= Homoziqot normal<\/td>\n<\/tr>\n
Mt\/N<\/td>\n= Heteroziqot<\/td>\n<\/tr>\n
Mt\/Mt<\/td>\n= Homoziqot mutant<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

\u0130stifad\u0259si:<\/strong>\u00a0Erk\u0259n ya\u015flarda ate\u00adrosklerotik vaskulyar x\u0259st\u0259lik v\u0259 ya tromboz anamnezi olan x\u0259st\u0259l\u0259rin MTHFR gen mutasiya analizind\u0259n ke\u00e7m\u0259l\u0259ri m\u0259sl\u0259h\u0259t g\u00f6r\u00fcl\u00fcr. MTHFR genind\u0259ki C677T v\u0259 A1298C muta\u00adsi\u00adyalar\u0131 ferment aktivliyinin z\u0259ifl\u0259\u00adm\u0259sin\u0259 s\u0259b\u0259b olur. C677T muta\u00adsiyas\u0131na \u0259hali aras\u0131nda s\u0131x rastlan\u0131r v\u0259 bu mutasiyan\u0131 homoziqot kimi da\u00ad\u015f\u0131yanlarda plazmada homosistein s\u0259viyy\u0259si v\u0259 bu s\u0259b\u0259bd\u0259n kardiovas\u00adkulyar x\u0259st\u0259lik v\u0259 venoz tromboz riski y\u00fcks\u0259k olur. Qeyd etm\u0259k laz\u0131md\u0131r ki, bu x\u0259stl\u0259l\u0259r fol tur\u015fusu il\u0259 m\u00fcalic\u0259y\u0259 yax\u015f\u0131 cavab verir<\/p>\n\r\n <\/div>\r\n <\/div>\r\n <\/section>

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PHILADELPHIA XROMOSOMU<\/a><\/h2>\r\n
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Sinonim:<\/strong>\u00a0bcr\/abl4 t(9;22)<\/p>\n

N\u00fcmun\u0259 n\u00f6v\u00fc:\u00a0<\/strong>EDTA-l\u0131 v\u0259 ya heparinli tam qan, EDTA-l\u0131 v\u0259 ya heparinli s\u00fcm\u00fck iliyi<\/p>\n

N\u00fcmun\u0259 qab\u0131:<\/strong>\u00a0B\u0259n\u00f6v\u015f\u0259yi (EDTA-l\u0131) v\u0259 ya ya\u015f\u0131l (heparinli) qapaql\u0131 s\u0131naq \u015f\u00fc\u015f\u0259si<\/p>\n

N\u00fcmun\u0259 miqdar\u0131:<\/strong>\u00a05mL<\/p>\n

N\u00fcmun\u0259nin al\u0131nma qaydas\u0131<\/strong>:<\/strong>\u00a0N\u00fc\u00admun\u0259 al\u0131nd\u0131qdan sonra soyuq \u015f\u0259\u00adraitd\u0259 saxlan\u0131lmal\u0131 v\u0259 g\u00f6nd\u0259\u00adril\u00adm\u0259lidir. N\u00fcmun\u0259 48 saat \u0259rzind\u0259 laboratoriyaya \u00e7atd\u0131r\u0131lmal\u0131d\u0131r<\/p>\n

\u0130\u015f prinsipi:<\/strong>\u00a0RT-PCR<\/p>\n

N\u00fcmun\u0259d\u0259n imtina s\u0259b\u0259bl\u0259ri:<\/strong>\u00a0N\u00fc\u00admun\u0259nin 48 saatdan uzun m\u00fcdd\u0259t saxlan\u0131lmas\u0131 v\u0259 soyuq \u015f\u0259raitd\u0259 g\u00f6nd\u0259rilm\u0259m\u0259si<\/p>\n

\u0130stifad\u0259si:<\/strong>\u00a0Xroniki mieloid leykoz v\u0259 k\u0259skin limfositar leykozun diaq\u00adnozunda istifad\u0259 olunur. K\u0259miyy\u0259tc\u0259 \u00f6l\u00e7m\u0259 apar\u0131ld\u0131\u011f\u0131 \u00fc\u00e7\u00fcn t\u0259krarlanan v\u0259 minimal rezidual (qal\u0131q) x\u0259st\u0259liyin m\u00fc\u015fahid\u0259sind\u0259 \u0259h\u0259miyy\u0259tlidir. Tes\u00adtin m\u00fc\u015fahid\u0259 aral\u0131qlar\u0131 x\u0259st\u0259liyin klinikas\u0131ndan as\u0131l\u0131 olaraq n\u0259 q\u0259d\u0259r d\u0259yi\u015fs\u0259 d\u0259, m\u00f6vcud m\u0259lumatlara \u0259sas\u0259n m\u00fc\u015fahid\u0259 olunan x\u0259st\u0259l\u0259rd\u0259 m\u00fcayin\u0259 3 aydan bir apar\u0131lmal\u0131d\u0131r<\/p>\n\r\n <\/div>\r\n <\/div>\r\n <\/section>

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PKU MOLEKULYAR ANAL\u0130Z\u0130 (FEN\u0130LKETONUR\u0130YA (PKU) MOLEKULYAR ANAL\u0130Z\u0130)<\/a><\/h2>\r\n
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N\u00fcmun\u0259 n\u00f6v\u00fc:\u00a0<\/strong>EDTA-l\u0131 tam qan<\/p>\n

N\u00fcmun\u0259 qab\u0131:\u00a0<\/strong>B\u0259n\u00f6v\u015f\u0259yi qapaql\u0131 s\u0131naq \u015f\u00fc\u015f\u0259si<\/p>\n

N\u00fcmun\u0259 miqdar\u0131:<\/strong>\u00a05 mL<\/p>\n

Laz\u0131mi m\u0259lumatlar:<\/strong>\u00a0N\u0259sil a\u011fac\u0131 v\u0259 \u0259trafl\u0131 ail\u0259 m\u0259lumatlar\u0131, yenido\u00ad\u011fu\u00adlan\u0131n skrininq n\u0259tic\u0259l\u0259ri<\/p>\n

Ail\u0259 f\u0259rdl\u0259ri:<\/strong>\u00a0Testin kimin \u00fc\u00e7\u00fcn ist\u0259\u00adnildiyind\u0259n as\u0131l\u0131 olaraq, g\u00f6r\u00fc\u00adl\u0259\u00adc\u0259k i\u015f \u00e7\u0259r\u00e7iv\u0259sind\u0259 hans\u0131 ail\u0259 \u00fczv\u00adl\u0259rinin m\u00fcayin\u0259sin\u0259 ehtiyac oldu\u011fu n\u0259sil a\u011fac\u0131 ara\u015fd\u0131r\u0131ld\u0131qdan sonra q\u0259rar verilir<\/p>\n

\u0130\u015f prinsipi:<\/strong>\u00a0PZR-REA-RFLP<\/p>\n

N\u00fcmun\u0259d\u0259n imtina s\u0259b\u0259bl\u0259ri:<\/strong>\u00a0He\u00admoliz, laxtalanma, uy\u011fun olmayan s\u0131naq \u015f\u00fc\u015f\u0259sin\u0259 qan al\u0131nmas\u0131<\/p>\n

\u0130stifad\u0259si:\u00a0<\/strong>PKU, fenilalanin hidrok\u00adsilaza (PAH) fermentinin poz\u011fun\u00adlu\u011fu v\u0259 ya \u00e7at\u0131\u015fmazl\u0131\u011f\u0131 il\u0259 ba\u015f ver\u0259n irsi x\u0259st\u0259likdir. Autosom resessiv ke\u00ad\u00e7ir. PAH, fenilalanini tirozin\u0259 \u00e7e\u00advi\u00adrir. PAH \u00e7at\u0131\u015fmazl\u0131\u011f\u0131 v\u0259 ya funk\u00adsional poz\u011funlu\u011fu zaman\u0131 qanda fenilalanin toplan\u0131r ki, bu\u00a0 da beyin \u00fc\u00e7\u00fcn toksikdir. Do\u011fu\u015fdan sonrak\u0131 g\u00fcnl\u0259rd\u0259 skrininq testl\u0259rl\u0259 PKU t\u0259yin oluna bil\u0259r v\u0259 bu x\u0259st\u0259l\u0259r m\u00fcvafiq p\u0259hrizl\u0259 normal h\u0259yata davam ed\u0259 bil\u0259rl\u0259r. \u018fks halda ya\u015f \u00f6td\u00fckc\u0259, gerid\u00f6nm\u0259z \u0259qli v\u0259 ya nevroloji poz\u011funluqlar meydana \u00e7\u0131xa bil\u0259r. X\u0259st\u0259lik PAH genind\u0259 ba\u015f ver\u0259n mutasiyalarla \u0259laq\u0259dar \u0259m\u0259l\u0259 g\u0259lir. Bunun \u00fc\u00e7\u00fcn \u00fc\u00e7\u00fcn h\u0259m ana, h\u0259m d\u0259 ata mutant gen da\u015f\u0131y\u0131c\u0131s\u0131 olmal\u0131d\u0131r. Da\u015f\u0131y\u0131c\u0131 ana v\u0259 atadan olan u\u015faqlar\u0131n x\u0259st\u0259l\u0259nm\u0259 ehtimal\u0131 25%-dir. X\u0259st\u0259 \u015f\u0259xsin valideyinl\u0259rind\u0259n ald\u0131\u011f\u0131 allel genl\u0259r \u201cba\u011flant\u0131 analizi\u201d adland\u0131r\u0131lan dolay\u0131 metod il\u0259 t\u0259yin olunur. Muta\u00adsiyas\u0131 a\u015fkar olunmayan x\u0259st\u0259 ail\u0259\u00adl\u0259\u00adrin\u0259 prenatal diaqnoz v\u0259 ya da\u015f\u0131y\u0131\u00adc\u0131\u00adl\u0131\u011f\u0131n t\u0259yinind\u0259 k\u00f6m\u0259k etm\u0259k m\u0259q\u00ads\u0259\u00addil\u0259 dolay\u0131 analiz t\u0259tbiq oluna bil\u0259r<\/p>\n\r\n <\/div>\r\n <\/div>\r\n <\/section>

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PRENATAL D\u0130AQNOZ<\/a><\/h2>\r\n
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Sinonim:<\/strong>\u00a0Do\u011fu\u015fdan \u0259vv\u0259l diaqnoz<\/p>\n

N\u00fcmun\u0259 n\u00f6v\u00fc:\u00a0<\/strong>Toxuma, d\u00f6l material\u0131 (g\u00f6b\u0259k ciy\u0259si qan\u0131, korion villus (CVS) v\u0259 amnion mayesi (AFS)), kultivasiya material\u0131<\/p>\n

N\u00fcmun\u0259 qab\u0131:<\/strong>\u00a0N\u00fcmun\u0259l\u0259r material\u0131 g\u00f6t\u00fcr\u0259n m\u00fct\u0259x\u0259ssis t\u0259r\u0259find\u0259n m\u0259sl\u0259h\u0259t g\u00f6r\u00fcl\u0259n m\u00fcvafiq s\u0131naq \u015f\u00fc\u015f\u0259sin\u0259 al\u0131n\u0131r<\/p>\n

N\u00fcmun\u0259 miqdar\u0131:<\/strong>\u00a0Toxuma (10 mg), CVS (10 mg), AFS (10 mL), g\u00f6b\u0259k ciy\u0259si qan\u0131 (500 \u03bcL)<\/p>\n

Lazimi m\u0259lumatlar:<\/strong>\u00a0N\u0259sil a\u011fac\u0131, \u0259t\u00adrafl\u0131 ail\u0259 m\u0259lumatlar\u0131 v\u0259 ail\u0259d\u0259 daha \u0259vv\u0259l icra olunmu\u015f DNT analiz n\u0259\u00adtic\u0259l\u0259ri g\u00f6nd\u0259rilm\u0259lidir. Ail\u0259y\u0259 dair m\u0259lumatlar\u0131n tam v\u0259 do\u011fru verilm\u0259si prenatal diaqnoz testinin n\u0259tic\u0259sinin d\u0259qiqliyi bax\u0131mdan \u0259h\u0259miyy\u0259tlidir<\/p>\n

Ail\u0259 \u00fczvl\u0259ri:<\/strong>\u00a0Maternal kon\u00adta\u00admi\u00adna\u00adsiya \u00e7al\u0131\u015fmas\u0131 \u00fc\u00e7\u00fcn d\u00f6l\u0259 aid material il\u0259 birlikd\u0259 ana v\u0259 atan\u0131n EDTA-l\u0131 tam qan n\u00fcmun\u0259l\u0259ri d\u0259 g\u00f6d\u0259ril\u00adm\u0259lidir<\/p>\n

X\u0259st\u0259nin haz\u0131rlanmas\u0131:<\/strong>\u00a024-c\u00fc hamil\u0259lik h\u0259ft\u0259sind\u0259n \u0259vv\u0259l apar\u0131la bil\u0259r<\/p>\n

Cinsiyy\u0259t analizi:\u00a0<\/strong>X-l\u0259 \u0259laq\u0259li irsilik x\u00fcsusiyy\u0259ti da\u015f\u0131yan x\u0259st\u0259likl\u0259rd\u0259 d\u00f6l\u00fcn cinsiyy\u0259ti t\u0259yin olunur<\/p>\n

\u0130\u015f prinsipi:<\/strong>\u00a0PzR<\/p>\n

Maternal kontaminasiya:<\/strong>\u00a0D\u00f6l\u0259 aid material\u0131n ana toxumas\u0131 il\u0259 qar\u0131\u015f\u0131b qar\u0131\u015fmad\u0131\u011f\u0131 analiz edilir<\/p>\n

N\u00fcmun\u0259d\u0259n imtina s\u0259b\u0259bl\u0259ri:\u00a0<\/strong>Hamil\u0259liyin sonrak\u0131 h\u0259ft\u0259l\u0259ri, ail\u0259d\u0259 daha \u0259vv\u0259l DNT analizinin icra olunmamas\u0131 v\u0259 ya apar\u0131lan DNT analizinin prenatal diaqnozu \u00fc\u00e7\u00fcn yet\u0259rli m\u0259lumat verm\u0259m\u0259si<\/p>\n

\u0130stifad\u0259si:<\/strong>\u00a0N\u0259sild\u0259 rast g\u0259lin\u0259n v\u0259 irsi x\u0259st\u0259liy\u0259 s\u0259b\u0259b olan mutasiyalar v\u0259 ya ail\u0259 i\u00e7\u0259risind\u0259ki \u201cx\u0259st\u0259liyin ke\u00e7i\u015f paterni\u201c \u0259vv\u0259lc\u0259d\u0259n t\u0259yin olunmu\u015fdursa, d\u00f6ld\u0259 DNT analizi apar\u0131laraq h\u0259min x\u0259st\u0259liyin meydana \u00e7\u0131x\u0131b \u00e7\u0131xmayaca\u011f\u0131 d\u0259qiql\u0259\u015fdiril\u0259 bil\u0259r<\/p>\n\r\n <\/div>\r\n <\/div>\r\n <\/section>

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PROQRESS\u0130V \u018fZ\u018fL\u018f D\u0130STROF\u0130YASI (DUCHENNE \/ BECKER \u018fZ\u018fL\u018f D\u0130STROF\u0130YASI (DMD\/BMD) B\u0130RL\u018f\u015eM\u018f ANAL\u0130Z\u0130)<\/a><\/h2>\r\n
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Sinonim:\u00a0<\/strong>Proqressiv \u0259z\u0259l\u0259\u00a0 distro\u00adfiyas\u0131 (P\u018fD)<\/p>\n

N\u00fcmun\u0259 n\u00f6v\u00fc:\u00a0<\/strong>EDTA-l\u0131 tam qan<\/p>\n

N\u00fcmun\u0259 qab\u0131:<\/strong>\u00a0B\u0259n\u00f6v\u015f\u0259yi qapaql\u0131 s\u0131naq \u015f\u00fc\u015f\u0259si<\/p>\n

N\u00fcmun\u0259 miqdar\u0131<\/strong>: 5 mL<\/p>\n

Laz\u0131mi m\u0259lumatlar:\u00a0<\/strong>N\u0259sil a\u011fac\u0131 v\u0259 ail\u0259 bar\u0259d\u0259 \u0259trafl\u0131 m\u0259lumatlar, CPK n\u0259tic\u0259l\u0259ri, delesiya analizinin n\u0259ti\u00adc\u0259l\u0259ri<\/p>\n

Ail\u0259 \u00fczvl\u0259ri:\u00a0<\/strong>Testin kimin \u00fc\u00e7\u00fcn ist\u0259\u00adnildiyind\u0259n as\u0131l\u0131 olaraq, apar\u0131lacaq t\u0259dqiqatlar \u00e7\u0259r\u00e7iv\u0259sind\u0259 hans\u0131 ail\u0259 f\u0259rdl\u0259rinin m\u00fcayin\u0259sin\u0259 ehtiyac ol\u00addu\u00ad\u00ad\u011fu n\u0259sil a\u011fac\u0131 ara\u015fd\u0131r\u0131ld\u0131qdan sonra q\u0259rar verilir<\/p>\n

\u0130\u015f prinsipi:<\/strong>\u00a0PCR-RFLP-VNTR<\/p>\n

N\u00fcmun\u0259d\u0259n imtina s\u0259b\u0259bl\u0259ri:\u00a0<\/strong>Hemoliz, laxta, material\u0131n uy\u011fun s\u0131naq \u015f\u00fc\u015f\u0259sin\u0259 al\u0131nmamas\u0131<\/p>\n

\u0130stifad\u0259si:\u00a0<\/strong>X\u0259st\u0259 f\u0259rdin anas\u0131ndan q\u0259bul etdiyi allel gen, ba\u011flant\u0131 ana\u00adlizi adland\u0131r\u0131lan dolay\u0131 (qeyri d\u00fcz) metod il\u0259 t\u0259yin olunur. Mutasiyas\u0131 a\u015fkar olunmam\u0131\u015f x\u0259st\u0259l\u0259rin ail\u0259sin\u0259 prenatal diaqnozun v\u0259\/v\u0259 ya da\u015f\u0131y\u0131c\u0131l\u0131\u011f\u0131n t\u0259yinind\u0259 k\u00f6m\u0259k etm\u0259k m\u0259qs\u0259dil\u0259 dolay\u0131 (qeyri d\u00fcz) metod t\u0259tbiq oluna bil\u0259r (Bax Duchenne \/ Becker \u0259z\u0259l\u0259 distrofiyasi delesiya\u00a0 analizi)<\/p>\n\r\n <\/div>\r\n <\/div>\r\n <\/section>

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PROTROMB\u0130N GEN MUTAS\u0130YA ANAL\u0130Z\u0130<\/a><\/h2>\r\n
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Sinonim:<\/strong>\u00a0FII gen analizi; Pro\u00adtrombin \u00a02010<\/p>\n

N\u00fcmun\u0259 n\u00f6v\u00fc:\u00a0<\/strong>EDTA-l\u0131 tam qan<\/p>\n

N\u00fcmun\u0259 qab\u0131:<\/strong>\u00a0Mavi qapaql\u0131 s\u0131naq \u015f\u00fc\u015f\u0259si<\/p>\n

N\u00fcmun\u0259 miqdar\u0131:<\/strong>\u00a05 mL<\/p>\n

Mutasiya:\u00a0<\/strong>FII geni 20210 G>A substitusiyas\u0131<\/p>\n

\u0130\u015f prinsipi:<\/strong>\u00a0PCR-REA<\/p>\n

N\u00fcmun\u0259d\u0259n imtina s\u0259b\u0259bl\u0259ri:<\/strong>\u00a0Hemoliz, laxta, uy\u011fun olmayan s\u0131naq \u015f\u00fc\u015f\u0259sind\u0259 qan al\u0131nmas\u0131<\/p>\n

Referens:<\/strong><\/p>\n\n\n\n\n\n
N\/N<\/td>\n= Homoziqot normal<\/td>\n<\/tr>\n
Mt\/N<\/td>\n= Heteroziqot<\/td>\n<\/tr>\n
Mt\/Mt<\/td>\n= Homoziqot mutant<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

\u0130stifad\u0259si:\u00a0<\/strong>Autosom resessiv yolla ke\u00e7ir. \u0130diopatik serebral vena trom\u00adbozlar\u0131nda protrombin gen muta\u00adsiyas\u0131na rast g\u0259linir. X\u00fcsusil\u0259 FV-Leiden mutasiyas\u0131n\u0131 heteroziqot da\u00ad\u015f\u0131yanlar, eyni zamanda protrombin gen mutasiyas\u0131n\u0131 da heteroziqot ola\u00adraq da\u015f\u0131y\u0131rlarsa, bu \u015f\u0259xsl\u0259rd\u0259 t\u0259k\u00adrarlanan d\u0259rin vena trombozlar\u0131n\u0131n rastg\u0259lm\u0259 s\u0131xl\u0131\u011f\u0131, sad\u0259c\u0259 FV-Leiden da\u015f\u0131y\u0131c\u0131lar\u0131na nisb\u0259td\u0259 2.6 d\u0259f\u0259 ar\u00adt\u0131qd\u0131r<\/p>\n\r\n <\/div>\r\n <\/div>\r\n <\/section>

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S\u0130KL\u0130NG TEST\u0130<\/a><\/h2>\r\n
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Sinonim:<\/strong>\u00a0Oraqla\u015fma testi<\/p>\n

N\u00fcmun\u0259 n\u00f6v\u00fc:\u00a0<\/strong>EDTA-l\u0131 tam qan<\/p>\n

N\u00fcmun\u0259 qab\u0131:<\/strong>B\u0259n\u00f6v\u015f\u0259yi qapaql\u0131 s\u0131naq \u015f\u00fc\u015f\u0259si<\/p>\n

N\u00fcmun\u0259 miqdar\u0131:<\/strong>1mL<\/p>\n

\u0130\u015f prinsipi:<\/strong>\u00a0\u00c7\u00f6z\u00fcn\u00fcrl\u00fck<\/p>\n

N\u00fcmun\u0259d\u0259n imtina s\u0259b\u0259bl\u0259ri:<\/strong>\u00a0N\u00fc\u00admun\u0259nin laxtal\u0131 v\u0259 ya hemolizli olmas\u0131<\/p>\n

Referens:<\/strong>\u00a0Neqativ<\/p>\n

\u0130stifad\u0259si:<\/strong>\u00a0Oraq h\u00fcceyr\u0259li ane\u00admi\u00adyan\u0131n t\u0259yinind\u0259 istifad\u0259 ounur. HbS (> 25% oldu\u011fu hallar) v\u0259 dig\u0259r oraq\u00adla\u015fmaya s\u0259b\u0259b olan hemo\u00adqlo\u00adbinl\u0259r (m\u0259s. HbC-Harlen) m\u00f6vcud olduqda test pozitiv olur. Oraq h\u00fcceyr\u0259li ane\u00admiya, sickle trait (oraq xarakterli) v\u0259 HbS-in dig\u0259r x\u0259st\u0259likl\u0259rl\u0259 kombi\u00adna\u00adsiya oldu\u011fu hallarda (betta-tala\u00adse\u00admiya v\u0259 s.) HbS tap\u0131l\u0131r. Siklinq tes\u00adti\u00adnin pozitiv oldu\u011fu hallarda d\u0259qiq diaq\u00adnoz \u00fc\u00e7\u00fcn d\u0259qiq\u00adl\u0259\u015fdirici testl\u0259r (m\u0259s. Hb elektroforezi) apar\u0131lmal\u0131d\u0131r<\/p>\n\r\n <\/div>\r\n <\/div>\r\n <\/section>

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SMA MUTAS\u0130YA ANAL\u0130Z\u0130 (ONUR\u011eA \u018fZ\u018fL\u018fL\u018fR\u0130 ATROF\u0130YASI)<\/a><\/h2>\r\n
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Sinonim:<\/strong>\u00a0Werdnig-Hoffmann x\u0259st\u0259\u00adliyi (SMA Tip I); SMA intermedia (SMA Tip II); Kugelberg-Welander sindromu (SMA Tip III)<\/p>\n

N\u00fcmun\u0259 n\u00f6v\u00fc:\u00a0<\/strong>EDTA-l\u0131 tam qan<\/p>\n

N\u00fcmun\u0259 qab\u0131:<\/strong>\u00a0B\u0259n\u00f6v\u015f\u0259yi qapaql\u0131 s\u0131naq \u015f\u00fc\u015f\u0259si<\/p>\n

N\u00fcmun\u0259 miqdar\u0131:<\/strong>\u00a05 mL<\/p>\n

Laz\u0131mi m\u0259lumatlar:<\/strong>\u00a0N\u0259sil a\u011fac\u0131 v\u0259 \u0259trafl\u0131 ail\u0259 m\u0259lumatlar\u0131<\/p>\n

\u0130\u015f prinsipi:<\/strong>\u00a0PCR-\u0259 ba\u011fl\u0131 analiz<\/p>\n

N\u00fcmun\u0259d\u0259n imtina s\u0259b\u0259bl\u0259ri:<\/strong>\u00a0He\u00admoliz, laxta, qan n\u00fcmun\u0259sinin uy\u011fun olmayan s\u0131naq \u015f\u00fc\u015f\u0259sin\u0259 al\u0131nmas\u0131<\/p>\n

\u0130stifad\u0259si:<\/strong>\u00a0SMA, onur\u011fa beynind\u0259ki \u00f6n buynuz h\u00fcceyr\u0259l\u0259rinin de\u00adgen\u00adra\u00adsiyas\u0131 il\u0259 \u0259laq\u0259dar olaraq simmetrik \u0259z\u0259l\u0259 z\u0259ifliyi v\u0259 enin\u0259zolaql\u0131 \u0259z\u0259\u00adl\u0259\u00adl\u0259rin z\u0259ifl\u0259m\u0259si il\u0259 m\u00fc\u015fayi\u0259t olunan, autosom resessiv ke\u00e7\u0259 bil\u0259n irsi x\u0259st\u0259likdir. X\u0259st\u0259likl\u0259 \u0259laq\u0259si m\u0259lum olan bir ne\u00e7\u0259 gend\u0259n \u0259n \u0259h\u0259miy\u00ady\u0259t\u00adlisi say\u0131lan SMN geni 5-ci xromo\u00adsom \u00fcz\u0259rind\u0259 telomerik v\u0259 sentro\u00admerik iki kopya hal\u0131nda yerl\u0259\u015fir. X\u0259st\u0259lik fenotipinin ortaya \u00e7\u0131xma\u00ads\u0131nda \u0259n b\u00f6y\u00fck s\u0259b\u0259bl\u0259rd\u0259n biri faktlar\u0131n 80-85%-ind\u0259 rast g\u0259lin\u0259n v\u0259 SMNtel genind\u0259 meydana \u00e7\u0131xan delesiya mutasiyalar\u0131d\u0131r. X\u0259st\u0259liyin diaqnozu klinik \u0259lam\u0259tl\u0259r\u0259 uy\u011fun olaraq serumda CPK s\u0259viyy\u0259sinin y\u00fcks\u0259lm\u0259si, EMG v\u0259 \u0259z\u0259l\u0259 biopsi\u00adyas\u0131n\u0131n n\u0259tic\u0259l\u0259ri il\u0259 qoyulur<\/p>\n\r\n <\/div>\r\n <\/div>\r\n <\/section>

\r\n

SP\u0130NAL MUSKULYAR ATROF\u0130YA (SMA, ONUR\u011eA \u018fZ\u018fL\u018fL\u018fR\u0130 ATROF\u0130YASI) MUTAS\u0130YA ANAL\u0130Z\u0130<\/a><\/h2>\r\n
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Sinonim:<\/strong>\u00a0Werdnig-Hoffmann x\u0259st\u0259\u00adliyi (SMA Tip I); SMA intermedia (SMA Tip II); Kugelberg-Welander sindromu (SMA Tip III)<\/p>\n

N\u00fcmun\u0259 n\u00f6v\u00fc:\u00a0<\/strong>EDTA-l\u0131 tam qan<\/p>\n

N\u00fcmun\u0259 qab\u0131:<\/strong>\u00a0B\u0259n\u00f6v\u015f\u0259yi qapaql\u0131 s\u0131naq \u015f\u00fc\u015f\u0259si<\/p>\n

N\u00fcmun\u0259 miqdar\u0131:<\/strong>\u00a05 mL<\/p>\n

Laz\u0131mi m\u0259lumatlar:<\/strong>\u00a0N\u0259sil a\u011fac\u0131 v\u0259 \u0259trafl\u0131 ail\u0259 m\u0259lumatlar\u0131<\/p>\n

\u0130\u015f prinsipi:<\/strong>\u00a0PCR-\u0259 ba\u011fl\u0131 analiz<\/p>\n

N\u00fcmun\u0259d\u0259n imtina s\u0259b\u0259bl\u0259ri:<\/strong>\u00a0He\u00admoliz, laxta, qan n\u00fcmun\u0259sinin uy\u011fun olmayan s\u0131naq \u015f\u00fc\u015f\u0259sin\u0259 al\u0131nmas\u0131<\/p>\n

\u0130stifad\u0259si:<\/strong>\u00a0SMA, onur\u011fa beynind\u0259ki \u00f6n buynuz h\u00fcceyr\u0259l\u0259rinin de\u00adgen\u00adra\u00adsiyas\u0131 il\u0259 \u0259laq\u0259dar olaraq simmetrik \u0259z\u0259l\u0259 z\u0259ifliyi v\u0259 enin\u0259zolaql\u0131 \u0259z\u0259\u00adl\u0259\u00adl\u0259rin z\u0259ifl\u0259m\u0259si il\u0259 m\u00fc\u015fayi\u0259t olunan, autosom resessiv ke\u00e7\u0259 bil\u0259n irsi x\u0259st\u0259likdir. X\u0259st\u0259likl\u0259 \u0259laq\u0259si m\u0259lum olan bir ne\u00e7\u0259 gend\u0259n \u0259n \u0259h\u0259miy\u00ady\u0259t\u00adlisi say\u0131lan SMN geni 5-ci xromo\u00adsom \u00fcz\u0259rind\u0259 telomerik v\u0259 sentro\u00admerik iki kopya hal\u0131nda yerl\u0259\u015fir. X\u0259st\u0259lik fenotipinin ortaya \u00e7\u0131xma\u00ads\u0131nda \u0259n b\u00f6y\u00fck s\u0259b\u0259bl\u0259rd\u0259n biri faktlar\u0131n 80-85%-ind\u0259 rast g\u0259lin\u0259n v\u0259 SMNtel genind\u0259 meydana \u00e7\u0131xan delesiya mutasiyalar\u0131d\u0131r. X\u0259st\u0259liyin diaqnozu klinik \u0259lam\u0259tl\u0259r\u0259 uy\u011fun olaraq serumda CPK s\u0259viyy\u0259sinin y\u00fcks\u0259lm\u0259si, EMG v\u0259 \u0259z\u0259l\u0259 biopsi\u00adyas\u0131n\u0131n n\u0259tic\u0259l\u0259ri il\u0259 qoyulur<\/p>\n\r\n <\/div>\r\n <\/div>\r\n <\/section>

\r\n

TANATOFOR\u0130K (LETAL) D\u0130SPLAZ\u0130YA (TD) MUTAS\u0130YA ANAL\u0130Z\u0130<\/a><\/h2>\r\n
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N\u00fcmun\u0259 n\u00f6v\u00fc:<\/strong>\u00a0EDTA-l\u0131 tam qan<\/p>\n

N\u00fcmun\u0259 qab\u0131:<\/strong>\u00a0B\u0259n\u00f6v\u015f\u0259yi qapaql\u0131 s\u0131naq \u015f\u00fc\u015f\u0259si<\/p>\n

N\u00fcmun\u0259 miqdar\u0131:<\/strong>\u00a05 mL<\/p>\n

Laz\u0131mi m\u0259lumatlar:<\/strong>\u00a0N\u0259sil a\u011fac\u0131 v\u0259 \u0259trafl\u0131 ail\u0259 m\u0259lumatlar\u0131<\/p>\n

\u0130\u015f prinsipi:<\/strong>\u00a0PZR<\/p>\n

N\u00fcmun\u0259d\u0259n imtina s\u0259b\u0259bl\u0259ri:<\/strong>\u00a0He\u00admoliz, laxta, uy\u011fun olmayan s\u0131naq \u015f\u00fc\u015f\u0259sind\u0259 qan al\u0131nmas\u0131<\/p>\n

\u0130stifad\u0259si:\u00a0<\/strong>Do\u011fu\u015fdan sonrak\u0131 ilk saatlarda \u00f6l\u00fcml\u0259 n\u0259tic\u0259l\u0259n\u0259n irsi x\u0259st\u0259likdir. X\u0259st\u0259lik axondropla\u00adzi\u00adyan\u0131n allellik formas\u0131 kimidir. Dominant mutasiyalara daha \u00e7ox rast g\u0259linir, ancaq resessiv ke\u00e7i\u015fin m\u00fcm\u00adk\u00fcnl\u00fcy\u00fc n\u0259z\u0259rd\u0259n qa\u00e7\u0131r\u0131lmamal\u0131d\u0131r. T\u0259snifat yonca yarpa\u011f\u0131na b\u0259nz\u0259r k\u0259l\u00adl\u0259 qutusunun olmas\u0131 (II tip) v\u0259 olma\u00admas\u0131 (I tip) il\u0259 \u0259laq\u0259dar apar\u0131lm\u0131\u015fd\u0131r<\/p>\n\r\n <\/div>\r\n <\/div>\r\n <\/section>

\r\n

T\u018fK MUTAS\u0130YA ANAL\u0130Z\u0130<\/a><\/h2>\r\n
\r\n
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N\u00fcmun\u0259 n\u00f6v\u00fc:\u00a0<\/strong>EDTA-l\u0131 tam qan<\/p>\n

N\u00fcmun\u0259 qab\u0131:<\/strong>\u00a0B\u0259n\u00f6v\u015f\u0259yi qapaql\u0131 s\u0131naq \u015f\u00fc\u015f\u0259si<\/p>\n

N\u00fcmun\u0259 miqdar\u0131:<\/strong>\u00a05 mL<\/p>\n

Lazimi m\u0259lumatlar:<\/strong>\u00a0N\u0259sil a\u011fac\u0131 v\u0259 \u0259trafl\u0131 ail\u0259 m\u0259lumatlar\u0131, ail\u0259d\u0259 daha \u0259vv\u0259l apar\u0131lm\u0131\u015f DNT analizl\u0259rinin n\u0259tic\u0259l\u0259ri<\/p>\n

\u0130\u015f prinsipi:<\/strong>\u00a0PCR<\/p>\n

N\u00fcmun\u0259d\u0259n imtina s\u0259b\u0259bl\u0259ri:<\/strong>\u00a0He\u00admoliz, laxta, uy\u011fun olmayan s\u0131naq \u015f\u00fc\u015f\u0259sind\u0259 qan al\u0131nmas\u0131<\/p>\n

Referens:<\/strong><\/p>\n\n\n\n\n\n
N\/N<\/td>\n= Homoziqot normal<\/td>\n<\/tr>\n
MtN<\/td>\n= Heteroziqot<\/td>\n<\/tr>\n
Mt\/Mt<\/td>\n= Homoziqot mutant<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

\u0130stifad\u0259si:<\/strong>\u00a0\u0130ndeks fakt\u0131n x\u0259st\u0259lik fe\u00adnotipini g\u00f6st\u0259rm\u0259sin\u0259 s\u0259b\u0259b olan mutasiyan\u0131n ail\u0259d\u0259 tap\u0131ld\u0131\u011f\u0131 hallarda, dig\u0259r ail\u0259 \u00fczvl\u0259rind\u0259 eyni muta\u00adsiyan\u0131n olmas\u0131 hallar\u0131nda da\u015f\u0131y\u0131c\u0131l\u0131q diaqnozu qoyula bil\u0259r<\/p>\n\r\n <\/div>\r\n <\/div>\r\n <\/section>

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Y XROMOSOMU M\u0130KRODELES\u0130YA ANAL\u0130Z\u0130<\/a><\/h2>\r\n
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N\u00fcmun\u0259 n\u00f6v\u00fc:\u00a0<\/strong>\u00a0EDTA-l\u0131 tam qan<\/p>\n

N\u00fcmun\u0259 qab\u0131:<\/strong>\u00a0B\u0259n\u00f6v\u015f\u0259yi qapaql\u0131 s\u0131naq \u015f\u00fc\u015f\u0259si<\/p>\n

N\u00fcmun\u0259 miqdar\u0131:<\/strong>\u00a05 mL<\/p>\n

N\u00fcmun\u0259nin al\u0131nma qaydas\u0131:<\/strong>\u00a0X\u0259s\u00adt\u0259\u00adnin spermoqramma n\u0259tic\u0259l\u0259ri v\u0259 varsa karyotip n\u0259tic\u0259l\u0259ri d\u0259 labo\u00adratoriyam\u0131za g\u00f6nd\u0259rilm\u0259lidir<\/p>\n

\u0130\u015f prinsipi:<\/strong>\u00a0PZR<\/p>\n

Referens:<\/strong>\u00a0N\u0259tic\u0259d\u0259 bildiril\u0259c\u0259kdir<\/p>\n

\u0130stifad\u0259si:<\/strong>\u00a0Ki\u015fi sonsuzlu\u011funun qiy\u00adm\u0259t\u00adl\u0259ndirilm\u0259sind\u0259 istifad\u0259 olunur<\/p>\n\r\n <\/div>\r\n <\/div>\r\n <\/section>

\r\n

MDD MUTAS\u0130YA ANAL\u0130Z\u0130 (HEPAT\u0130T B V\u0130RUSU YMDD MUTAS\u0130YA ANAL\u0130Z\u0130)<\/a><\/h2>\r\n
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Sinonim:\u00a0<\/strong>HBV YMDD mutasiya analizi<\/p>\n

N\u00fcmun\u0259 n\u00f6v\u00fc:\u00a0<\/strong>Serum<\/p>\n

N\u00fcmun\u0259 qab\u0131:<\/strong>\u00a0Q\u0131rm\u0131z\u0131 qapaql\u0131 s\u0131\u00adnaq \u015f\u00fc\u015f\u0259si<\/p>\n

N\u00fcmun\u0259 miqdar\u0131:<\/strong>1 mL<\/p>\n

Testin t\u0259rkibi:<\/strong>\u00a0YMDD v\u0259 YVDD mutasiyalar\u0131<\/p>\n

\u0130\u015f prinsipi:\u00a0<\/strong>PZR \/ RFLP<\/p>\n

N\u00fcmun\u0259d\u0259n imtina s\u0259b\u0259bl\u0259ri:<\/strong>\u00a0H\u0259d\u00add\u0259n art\u0131q hemoliz, lipemiya, sar\u0131l\u0131q<\/p>\n

\u0130stifad\u0259si:<\/strong>\u00a0xroniki hepatit B infek\u00adsiyas\u0131n\u0131n Lamivudin il\u0259 m\u00fcalic\u0259sinin m\u00fc\u015fahid\u0259sind\u0259 istifad\u0259 olunr. Bu mu\u00adtasiyan\u0131 da\u015f\u0131yan x\u0259st\u0259l\u0259r Lami\u00advudin\u0259 rezistentdir<\/p>\n\r\n <\/div>\r\n <\/div>\r\n <\/section>

\r\n

YMDD MUTAS\u0130YA ANAL\u0130Z\u0130 (HEPAT\u0130T B V\u0130RUSU YMDD MUTAS\u0130YA ANAL\u0130Z\u0130)<\/a><\/h2>\r\n
\r\n
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Sinonim:\u00a0<\/strong>HBV YMDD mutasiya analizi<\/p>\n

N\u00fcmun\u0259 n\u00f6v\u00fc:\u00a0<\/strong>Serum<\/p>\n

N\u00fcmun\u0259 qab\u0131:<\/strong>\u00a0Q\u0131rm\u0131z\u0131 qapaql\u0131 s\u0131\u00adnaq \u015f\u00fc\u015f\u0259si<\/p>\n

N\u00fcmun\u0259 miqdar\u0131:<\/strong>1 mL<\/p>\n

Testin t\u0259rkibi:<\/strong>\u00a0YMDD v\u0259 YVDD mutasiyalar\u0131<\/p>\n

\u0130\u015f prinsipi:\u00a0<\/strong>PZR \/ RFLP<\/p>\n

N\u00fcmun\u0259d\u0259n imtina s\u0259b\u0259bl\u0259ri:<\/strong>\u00a0H\u0259d\u00add\u0259n art\u0131q hemoliz, lipemiya, sar\u0131l\u0131q<\/p>\n

\u0130stifad\u0259si:<\/strong>\u00a0xroniki hepatit B infek\u00adsiyas\u0131n\u0131n Lamivudin il\u0259 m\u00fcalic\u0259sinin m\u00fc\u015fahid\u0259sind\u0259 istifad\u0259 olunr. Bu mu\u00adtasiyan\u0131 da\u015f\u0131yan x\u0259st\u0259l\u0259r Lami\u00advudin\u0259 rezistentdir<\/p>\n\r\n <\/div>\r\n <\/div>\r\n <\/section><\/div>[\/vc_column][\/vc_row]<\/p>\n","protected":false},"excerpt":{"rendered":"

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