CKIT MUTATION ANALYSIS BY REAL TIME QUALITATIVE PCR
TPMT GENOTYPING
MUTATION TESTED: PCR-based assay to detect mutations in cKIT gene
INDICATIONS FOR ORDERING: Malignant melanoma, gastrointestinal stromal tumors, Mastocytosis,
METHOD USED: cKIT Analysis Kit by Entrogen.
SPECIMENS – Type, storage and transport
- Type: Non-diluted peripheral blood sample/bone marrow aspirate in an EDTA (lavender) tube. Formalin fixed paraffin embedded tissue sections (Tissue block). Please provide a hematoxylin and eosin stained slide of the corresponding block, if available. PLEASE AVOID HEPARINATED BLOOD
Bone Marrow: Min. 3mL
Whole Blood: 3 mL
- Transport: Specimens must be received within 24 hours of collection
- Storage: Whole Blood or Bone Marrow. Separate specimens must be submitted when multiple tests are ordered.
- Extracted DNA: Separate specimens must be submitted when multiple tests are ordered.
- Unacceptable samples: Specimens collected in anticoagulants other than EDTA, haemolysed/clotted samples. Depleted tissue blocks, and non-representative tissue blocks
TEST DESCRIPTION: This is a DNA based real time qualitative PCR based assay which detects mutations in exons 9, 11,13 and 17 of the cKIT genes which are commonly implicated in the malignancies enlisted above.
TURNAROUND TIME: 5 (five) 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. Material Safety Data Sheets (MSDS) may be ordered upon request. 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
Mutations detected in the cKIT gene (EntroGen)