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Alternate Name: |
Genotyping, acquired mutation, tyrosine kinase, MPD, Cytogenetics, chromosome analysis, G-banding, MPD, karyotype, JAK2 V617F, MPL 515, CALR, calreticulin, myeloproliferative neoplasm, MPN, MPD, genotyping, acquired mutation, tyrosine kinase
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Specimen Type: |
Molecular testing: minimum 2.0 mL Bone Marrow in EDTA, or 4mL Peripheral Blood in EDTA.
Cytogenetics: minimum 2.0mL Bone Marrow (preferred) in Green Sodium Heparin Tube
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Storage/ Transport: |
Ship at room temperature Overnight fridge storage as required.
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Turnaround Time: |
Routine:
Molecular: 10 days
Cytogenetics: 4 weeks
Urgent:
Cytogenetics: 2 weeks
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Additional Information: |
For blood and bone marrow EDTA samples, the following molecular testing will be performed:
- RNA-testing for the following fusion by RT-PCR: BCR::ABL1 (b2a2, b3a2, e1a2, e1a3, e19a2 forms)
- PCR-based assay for the detection of the acquired, somatic tyrosine kinase JAK2 gene mutation V617F (Val617Phe).
- Fragment analysis/Sanger sequencing for detection of insertions and deletions in CALR gene (exon 9 only)
MPL and JAK2 Exon 12 are only performed if specifically requested (bone marrow only).
If requested, karyotype and/or FISH (PDGFRA, PDGFRB, FGFR1) will be performed.
Note: that JAK2 V617F testing is only performed for initial diagnosis (no follow-up testing available).
For any inquiries, please contact geneticsmailbox@hhsc.ca
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Test was Last Updated: |
2/27/2024
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Testing Laboratory: |
Clinical Genetics
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Testing Site: |
JHCC
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