آزمايشگاه تشخيص طبي و آسيب شناسي جم

Achondroplasia (FGFR3 gene)
Albinism
ALK mutation
Alpha thalassemia
BCR ABL Qualitative
BCR ABL Quantitative
Bernard–Soulier syndrome (GP1BA, GP1BB, GP9 genes)
Beta thalassemia
Blood Karyotyping
Bloom syndrome (BLM gene)
BRAF
Breast cancer (BRCA1, BRCA2 genes)
Canavan disease (ASPA gene)
Cell free DNA (NIPT)
Charcot-Marie-Tooth disease (PMP22 gene)
Congenital adrenal hyperplasia (CAH)
Connexin 26 (GJB2 gene)
Connexin 30 (GJB6 gene)
CVS Karyotyping
Cystic fibrosis (CF)
Deafness gene panel
DiGeorge Syndrome (DGS)
Dio NGS
DNA profiling (DNA testing)
Duchenne muscular dystrophy (DMD)
EGFR mutation
Factor V
Factor VII
Factor X
Factor XI
Familial adenomatous polyposis (APC gene)
Familial Mediterranean fever (FMF) disease
Fragile X
Friedreich ataxia (FRDA)
Gender Determination
Haemophilia A
Haemophilia B
Hereditary diffuse gastric cancer (CDH1 gene)
Hereditary hemochromatosis (HFE)
Huntington disease (HD)
Interphase FISH
Inversion 22 hemophilia
JAK2
Karyotyping Amnion (Amniocentesis)
KRAS mutation
Large NGS
Li-Fraumeni Syndrome (TP53 gene)
Metaphase FISH
Micro array
Myotonic dystrophy (MD)
NRAS mutation
Osteopetrosis (CLCN7 gene)
PGD Sex determination
PGS
Phenylketonuria (PKU)
Prayer Willi -Angelman Syndrome
prothrombinemia (Factor II)
QF PCR
RET gene
Retinoblastoma (RB1 gene)
Severe combined immunodeficiency disease (SCID) – (ADA gene)
Sickle Cell Anemia
Sjögren-Larsson syndrome (ALDH3A2 gene)
Small NGS
Smith–Lemli–Opitz syndrome (SLOS) – (DHCR7 gene)
Solid Karyotyping
Spinal muscular atrophy (SMA)
Spinocerebellar ataxia (SCA)
SRY
Thrombophilia Panel (MTHFR, Factor V Leiden, PAI-1, FII)
Trio NGS
Von Hippel–Lindau disease (VHL)
Williams syndrome
Wiskott–Aldrich syndrome (WAS)
Wolfram Syndrome (WFSI gene)
Y chromosome microdeletion (AZF)