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Conventional Cytogenetics (Karyotyping)

• Acute myeloid leukemia (AML)
• Myelodisplastic syndrome (MDS)
• Acute lymphoblastic leukemia (ALL)
• Chronic myeloid leukemia (CML)
• Multiple myeloma
• Chronic lymphocytic leukemia

Molecular Cytogenetics - Fluorescence In Situ Hybridization (FISH)

• CML/MPD : BCR / ABL1-t(9;22)
• AML/MDS : PML/RAR α - t(15;17), AML1/ETO - t(8;21), CBFβ - inv(16), MLL - 11q23 for t(4;11), CEP 8 CEP 7/7q31, 5p15.2/5q31, 20q 12/q13.1
• ALL : BCR / ABL1 - t(9;22), E2A / PBX - t(1;19), MLL - 11q23, TEL / AML - t(12;21)
• MYELOMA : Ig H / FGFR3- t(4 ;14), IgH /CCND1 t(11 ;14) (q13 ;q32), RB1 - 13q14, TP53 17p13.1
• CLL : CEP 12, ATM 11q22.3, RB1 - 13q14, TP53 17p13.1
• CHIMERISM (SEX MISMATCHED) - CEP XY

Stress Cytogenetics for Fanconi’s Anemia

• Chromosome breakage analysis for Fanconi anemia.
  

Molecular Diagnosis Of Leukemia

RTPCR for leukemia specific fusion genes

• PML-RARA
• PLZF-RARA
• AML-ETO
• inv(16) CBFB-MYH11
• BCR-ABL
• FIP1L1-PDGFRA
• TEL-AML
• E2A-PBX
• MLL-AF4
• ABL KINASE DOMAIN MUTATION
• REAL-TIME RTPCR (RQPCR)
• APML: bcr1 bcr3
• CML / ALL b3a2, b2a2/e1a2
• BURKITS t(8;14) MYC-IgH for ALL-L3
• NPM1 exon 12,
• FLT3-ITD and TKD mutation in AML
• JAK2 V617F for myeloproliferative neoplasm
• ELA2 mutation analysis for cyclical neutropenia

 

Sample requirement/ turn around time