Cytogenetics

Cytogenetics

Test Code Test Specimen Requirement
B5029 Conventional cytogenetics- karyotyping of bone marrorw for AML,ALL,MDS,MM,CLL,CML,MPN VOLUME:At least 1ml of bone marrow (early aspirate)
  • Samples should be sterile& fresh
  • Do not freeze/fix
  • Label tube with patient details & nature of sample
  • Request form with patient details & clinician
  • contact number to be sent with sample
contact number to be sent with sample
CONTAINER Sodium heparin vacutainer (green top)
TIME 8am-3pm: Mon-Fri Before 11am: Sat
B5030 Fluorescence insitu hybridization (FISH)- for specific abnormalities including translocations, deletions, inversion, chimerism ( sex- mismatched)
List of available probes
Chronic myeloid leukemia : BCR/ABL1
Acute promyelocytic leukemia : PML/RARα, RARα
Acute myeloid leukemia / myelodysplastic syndrome: CBFß,RUNX1/RUNX1T1, D7S522, EVI1,EGR1, D20S108,CEP 8
Acute lymphoblastic leukemia: BCR/ABL1, ETV6/RUNX1, MLL,TCF3,IgH,CDKN2A
Multiple myeloma : IgH/FGFR3, IgH/CCND1,TP53,D13S319
Chronic lymphocytic leukemia : CEP 12, ATM,TP53,D13S319
Lymphoma : CMYC,BCL2,BCL6
Hypereosinophilic syndrome :PDGFRα
Chimersism : CEPXY
VOLUME: 3-5 ml of peripheral blood
At least 1ml of bone marrow (early aspirate)
  • Samples should be sterile& fresh
  • Do not freeze/fix
  • Label tube with patient details & nature of sample
  • Request form with patient details & clinician
contact number to be sent with sample
CONTAINER Sodium heparin vacutainer (green top)
TIME 8am-3pm: Mon-Fri Before 11am: Sat
 
B5037 Chromosome breakage studies for the diagnosis of Fanconi anemia VOLUME: 3-5 ml of peripheral blood
At least 1ml of bone marrow (early aspirate)
  • Samples should be sterile& fresh
  • Do not freeze/fix
  • Label tube with patient details & nature of sample
  • Request form with patient details & clinician
contact number to be sent with sample
CONTAINER Sodium heparin vacutainer (green top)
TIME 8am-3pm: Mon-Fri Before 11am: Sat