List of Genetic Diagnostic tests
- Karyotyping from Blood (routine)
- Karyotyping for chromosomal variations from blood
- Chromosomal breakage study :
Fanconi Anemia
Ataxia telangiectasia
Bloom Syndrome
Sister Chromatid Exchnage study
Fragile X Syndrome
- 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: (18, X, Y) / (13, 21)
Sperm
Follicular fluid
Urine
Buccal cells
- 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)
inv(16)
Burkitts Lymphoma (8q24)
RARA (17q12-q21) rearrangement
del(13q14)
CLL panel to check for deletions of 11q23, p53, 13q14.3, 13q34 and Trisomy 12
Deletion 13q14.3 and 13q34 in Myltiple Myeloma
- FISH from urine cells for bladder cancer recurrence
- PGD by FISH (13, 18, 21, X and Y)
- PCR for Y chromosome microdeletions (20 mutations)
- Sperm Apoptosis by TUNEL method
