Welcome to IVF
Welcome to IVF
Welcome to IVF
List of Genetic Diagnostic tests
  • Karyotyping from Blood (routine)
  • Karyotyping for chromosomal variations from blood
  • Karyotyping from Bone marrow (in leukemias)
  • Karyotyping from Products of conception (in aborted fetuses)
  • Karyotyping for Prenatal Diagnosis (from CVS, amniotic fluid, cord blood)
  • FISH for Aneuploidy (13, 21 and/or 18, X, Y and/or 16, 22)
  • FISH for infertility and mosaicism: (18, X, Y) / (13, 21) : on
    Follicular fluid
    Buccal cells

  • Chromosomal breakage study :

    Fanconi Anemia
    Ataxia telangiectasia
    Bloom Syndrome
    Sister Chromatid Exchnage study
    Fragile X Syndrome

  • FISH for microdeletion syndromes
    Prader Willi syndrome
    Angelman syndrome
    Williams syndrome
    DiGeorge Syndrome
    Duplication 15 (Autism) 

  • FISH for hematological malignancies 
           BCR/ABL t(9;22)
           PML/RARA t(15;17)
           AML1/ETO t(8;21)
           TEL/AML1 t(12;21)
           FGFR3/IGH t(4;14)
           IGH/MAF t(14;16)
           CBFB rearrangement [inv(16)]
           Burkitts Lymphoma (8q24 - cmyc rearrangement)
           RARA (17q12-q21) rearrangement
           IGH rearrangement
           MLL rearrangement
           BCL2 rearrangement
           CLL panel to check for deletions of 11q23, p53, 13q14.3, 13q34 and Trisomy 12
           Deletion 13q14.3 and 13q34 in Myltiple Myeloma
           Deletion 5q
           Deletion 7q
           Deletion 20q
           Deletion 4q12 (FIP1L1-PDGFRA fusion)
           XX / XY for sex mis-matched BMT
  • FISH from urine cells for bladder cancer recurrence (UroVysion)
  • PGD by FISH for aneuploidy screening (13, 16, 18, 21, 22 X and Y) and (15, 17) / (9, 22) / (8, 21) etc. : Total 7-11 chromosomes
  • PGD by FISH for any Robertsonian or reciprocal balanced translocation in one of the parents

  • PCR for Y chromosome microdeletions (20 mutations)

  • Sperm Apoptosis by TUNEL method