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Molecular Genetics
5α-Reductase Deficiency Type 2 - SRD5A2 (entire gene)
ACE mutasiya analizi - I/D
Achondroplasia - FGFR3 (exon 10)
Achondroplasia - FGFR3 (exons 9, 10, 13, 15)
Adenosine Deaminase Deficiency - ADA (entire gene)
Alfa-1-Antitripsin çatışmazlıqı (AAT)
Alpha Thalassemia - HBA1 & HBA2 (del. & dupl.)
ApoE - e2, e3 ve e4 ailələri
Beta Thalassemia - HBB (entire gene)
Beta-Fibrinojen mutasiyası analizi - -455G>A
Blackfan-Diamond Anemia - RPS19 (entire gene)
CADASIL - NOTCH3 (exons 3, 4)
CADASIL - NOTCH3 (exons 3, 4, 11, 18, 19)
Canavan - ASPA DNA Analysis (entire gene)
Canavan - ASPA DNA Analysis (entire gene)
Cardiofaciocutaneous Syndrome - MEK2 (exons 1, 2, and 3)
Charcot-Marie-Tooth (CMT1A) - PMP22 (entire gene)
Charcot-Marie-Tooth (CMT1A) - PMP22 duplication
Charcot-Marie-Tooth - MPZ (entire gene)
Cold-Induced Sweating Syndrome Type 1 - CRLF1 (entire gene)
Congenital Deafness - Connexin 26 (exon 2)
Congenital Deafness - GJB1 (entire gene)
Congenital Myasthenic Syndrome - CHRNE (exons 11 & 12)
Cystic Fibrosis - CFTR (19 mutations)
Cystic Fibrosis - CFTR (36 mutations)
Cystic Fibrosis - CFTR (550 mutations)
Cystic Fibrosis - CFTR (del. & dupl.)
Cystic Fibrosis - CFTR (deltaF508)
Cystic Fibrosis - CFTR (entire gene)
DMD/BMD - Dystrophy (79 exon del. & dupl.)
Döş qəfəsi Aortal Anevrizma + Aortik Diseksiyası Tip 4 - ACTA2 (bütün gen)
Dystonia (DYT1) - TOR1A1 (GAG deletion)
Fabry Disease - GLA (entire gene)
Factor XII (HAE) Mutation Analysis
Faktor II (protrombin) mutasiyası analizi
Faktor V leiden mutasiyası analizi
Faktor XIII mutasiyası analizi - V34L)-
FMF - MEFV (12 mutations)
FMF - MEFV (122 mutations)
FMF - MEFV (50 mutations)
FMF - MEFV (entire gene)
Fragile X - FMR1 (CGG repeat)
FSHB mutasiyaı Analizi – -211G>T
G6PD Deficiency - G6PD (entire gene)
Galactokinase - GALK1 (entire gene)
Galactosemia DNA Analysis - GALT (entire gene)
Griscelli Syndrome Type 2 - RAB27A (entire gene)
GSD Type 1A (Von Gierke) - G6PC (entire gene)
GSD Type 1B/1C - SLC37A4 (entire gene)
Harler Sindromu - IDS (bütün gen)
HDR Sindromu – GATA3 (bütün gen)
Hemochromatosis - H63D and C282Y
Hemophilia B Disease - F9 (entire gene)
HLAB27
HPA1 DNA analizi - a/b
Hunter Syndrome - IDS (entire gene)
Hypochondroplasia - FGFR3 (exon 10)
Hypochondroplasia - FGFR3 (exons 9, 10, 13, 15)
Hypoparathyroidism-Deafness-Renal Dysplasia - GATA3 (entire gene)
Kardiiofasiokutanoz - BRAF (ekzon 6, 11-16)
Kardiiofasiokutanoz - MEK1 (ekzon 2,3)
LHON Mutation Analysis - MTND Genes (A52T, R340H, M64V)
Lymphoproliferative Syndrome - SH2D1A (entire gene)
Metachromatic Leukodystrophy - ARSA (entire gene)
Molecular Karyotyping - Postnatal - Illumina 300K
MTHFR mutasiya analizi - A1298C
MTHFR mutasiya analizi - C677T
Mucopolysaccharidosis Type IVA - GALNS (entire gene)
Mukopolisaxaridoz Tip II - IDS (bütün gen)
Neutropenia - ELA2 (entire gene)
Niemann-Pick Syndrome - SMPD (entire gene)
Onurğa beyin Əzələ Atrofiyası (SMA) - SMN1
Onurğa beyin Əzələ Atrofiyası (SMA) daşıyıcılıq testi - SMN1
Osteopetrosis - CLCN7 (entire gene)
Osteopetrosis - OSTM1 (entire gene)
Osteopetrosis - TCIRG (entire gene)
PAI-1 DNA analizi - 4G/5G
Pena-Shokeir Syndrome - DOK7 (entire gene)
Pena-Shokeir Syndrome - RAPSN (entire gene)
Phenylketonuria Disease - PKU (entire gene)
Rett Syndrome - MECP2 (del. & dupl.)
Rett Syndrome - MECP2 (entire gene)
Seliakiya Xəstəliyi – HLA (DQ2 ve DQ8)
Sialidaz (Neyraminidaza) - Neu1 (bütün gen)
Sickle Cell Anemia
Smit-Lemli-Opitz - DHCR7 (bütün gen)
Şvaxman-Daymond Sindromu – SBDS (bütün gen)
Tanatoforik displaziya - FGFR3 (ekzon 10, 15)
Trombofilik panel (faktor II/faktor V/MTHFR) 3 Mutasiya
Trombofilik panel (faktor II/faktor V/MTHFR) 4 Mutasiya
Ürək-damar risk paneli - 12 mutasiya
Y kxomosom mikrodelesiyası - 20 STR
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