Prenatal Diagnosis (PND)

Preimplantation Genetic Diagnosis (PGD)

  • PND for All chromosomes and microdeletion syndromes  by array CGH
  • PGD for Sex Selection
  • Karyotyping for CVS or Amniotic Fluid
  • PGD for All chromosomes by array CGH
  • Aneuploidy test for All chromosomes
  • PGD for chromosomes 13, 18, 21, X & Y by FISH
  • Rapid Test for chromosomal aneuploidy 13, 18, 21, X & Y
  • Molecular PGD for Known Genetic Diseases (Thalassemia, SMA, PKU, Sickle Cell disease, etc)
  • PND for Known Genetic Disease
 
   
   
   
 

Genetic testing for Infertile Patients

Cytogenetic Tests

  • Y chromosome Microdeletion
  • High resolution Blood Karyotyping (G-Banding)
  • POF screening (Fragile X & Turner syndromes)
  • Fluorescence In situ Hybridization (FISH)
  • Cystic Fibrosis (CF)
  • C-Banding
  • Androgen insensitivity syndrome
  • NOR Banding
 
   
   
   

Genetic testing for aborted Tissue

  • Genetic investigation of thrombosis factors
  • Chromosomal aneuploidy of aborted fetus
 

Neuromuscular Disease

Metabolic Disease

Hemoglobinopathy and thrombosis

  • Spinal Muscular Atrophy (SMA)
  • Cystic Fibrosis disease (CF)
  • Alpha Thalassemia
  • Duchenne/Becker Muscular Dystrophy (DMD)
  • Phenylketonuria (PKU)
  • Beta Thalassemia
  • Charcot-Marie-Tooth disease (CMT) 
  • lesch nyhan Syndrome
  • Sickle Cell Disease
  • Limb-Girdle Muscular Dystrophy (LGMD)
  • Tay sachs disease
  • Hemophilia A
   
     
     
     

Trinucleotide repeat expansion

  • Niemann pick disease
  • Hemophilia B
  • Fragile X syndrome
  • Congenital adrenal hyperplasia (CAH) 
  • MTHFR C677T
  • Huntington's disease (HD)
  • Gaucher disease
  • MTHFR A1298C
  • Myotonic dystrophy, etc
  • MPS I (Hurler)
  • Factor V Leiden R506Q
 
     
     
     

Hearing Loss

  • MPS II (Hunter)
  • Prothrombin G20210A
  • GJB2 & GJB6
  • MPS IIIA
  • PAI-1 4G/5G
  • Common mutation and deletion in other genes
  • MPS IIIB
  • Factor XIII
 
     
     

Mental disorder

HLA Typing

Skin Disease

  • Mental retardation (array CGH)
  • HLA Class I & II
  • Ichthyosis
  • Mental retardation (Fish & karyotyping)
  • HLA DQA, DQB, DQ8 & DQ2 for Celiac
  • Epidermolysis bullosa (EB)
  • Autism (array CGH)
  • HLA B27
  • Ectodermal dysplasia
   
     
     

Identical tests

Microdeletion syndromes

Genetic testing for Cancer

  • تعیین رابطه پدر فرزندی
  • Prader-Willi/Angelman
  • RB1 (Retinoblastoma)
  • AML translocation panel
  • تعیین رابطه مادر- فرزندی
  • Rubinstein-Taybi syndrome
  • WT1 (wilms tumor)
  • ALL translocation panel
  • تعیین رابطه خواهر برادری
  • Williams syndrome
  • NRAS Mutation
  • CLL translocation panel
  • تعیین سایر روابط خویشاوندی
  • Wolf-Hirschhorn 4p16.3
  • KRAS Mutation
  • CML translocation panel
     
       
       
       

Drug sensitivity

  • Digeorge Syndrome, 22q11
  • BRAF Mutation
  • BCR-ABL translocation
  • Warfarin sensitivity
  • Wager Syndrome
  • TOP2A Mutation
  • Her2/neu Copy Number by FISH
  • Smith-Magenis syndrome
  • PIK3CA Mutation
  • EGFR expression
  • Cri du Chat syndrome, 5p15
  • JAK2 Mutation
  • EML4-ALK rearrangement
  • Sotos syndrome
  • APC Mutation
  • MLH1 (methylation & mutation)
  • 1p36 deletion, etc
  • BRCA2 (Breast & ovarian cancer)
  • BRCA1 (Breast & ovarian cancer)
  • Quad Marker (Total HCG, uE3, AFP, Inhibin A)
  • Triple Marker (Papp-A, Free β HCG, NT)