ACUTE MYELOID LEUKEMIA TRANSLOCATION EXTENDED PANEL

MUTATION DETECTED: t(8;21)/RUNX1/RUNX1T1; t(15;17)/PML-RARα:bcr1 bcr2 bcr3 transcripts; inv16 (p25q13)/CBFB-MYH11; FLT3 (CD135)/ITD and D835; NPM1

INDICATIONS FOR ORDERING: Detection and monitoring of responses to molecular therapy in cases of acute myeloid leukemia (AML)

METHOD USED: Gel electrophoresis for t(8;21)/RUNX1/RUNX1T; t(15;17)/PML-RARα:bcr1 bcr2 bcr3 transcripts; inv16 (p25q13)/CBFB-MYH11; FLT3 (CD135)/ITD and D835 mutations. Pyro-sequencing kits provided by Qiagen, India for NPM1 mutation.

SPECIMENS – Type, storage and transport

• Type: Non-diluted peripheral blood sample/bone marrow aspirate in an EDTA (lavender) tube. PLEASE AVOID HEPARINATED SAMPLES

Bone Marrow: Min. 3mL

Whole Blood: 3 mL

• Transport: Specimens must be received as soon as possible due to lability of RNA. Transport the sample maintaining the cold chain to 40
• Storage: Whole Blood or Bone Marrow: Separate specimens must be submitted when multiple tests are ordered.
• Extracted RNA/DNA: Separate specimens must be submitted when multiple tests are ordered.
• Unacceptable samples: Specimens collected in anticoagulants other than EDTA, haemolysed/clotted samples, extracted RNA/DNA

TEST DESCRIPTION: This is an extended panel of RNA-based and DNA-based detection test for AML, based on oligonucleotide hydrolysis principle. The purified RNA sample, using reverse transcriptase, is converted into cDNA. This cDNA is taken into interpretation for each translocation mentioned above. DNA is used for FLT3-ITD, FLT3-D835 and for NPM1 mutation analyses

ANALYTICAL SENSITIVITY: This is a qualitative test, hence yields a positive or a negative result only. Analytical sensitivity refers to the limit of detection of any assay and may not be applicable in this context.

TURNAROUND TIME: 7 (seven) working days from receipt of sample.

QUALITY ASSURANCE & COMPETENCY TESTING: Regular internal quality checks and intra-lab comparisons are performed to ensure accurate and precise results. Highly trained personnel performing this test undergo regular competency assessments and attend regular conferences and educational programs in order to stay upbeat with the newer advances in the biology and diagnostics of the disease in question.

ACCREDITATION: NABL

NOTE: Kindly note that this test does not yield the copy numbers of the mutations detected and hence, is not recommended for monitoring of molecular residual disease.