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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: |
The following molecular tests are available for EDTA Bone Marrow or Peripheral Blood samples. Please note, specific criteria, as requested on the requisition must be provided, otherwise this molecular testing will not 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 molecular testing will be performed if requested, and can ONLY be performed on bone marrow samples.
The following cytogenetic tests are available for NaHep Bone Marrow or Peripheral Blood samples:
- Chromosomes/karyotype
- FISH (PDGFRA, PDGFRB, FGFR1)
Please note: 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: |
6/16/2025
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Testing Laboratory: |
Clinical Genetics
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Testing Site: |
JHCC
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