JAK2 Exon 12 Mutation Screen

Diagnostic Use

Test to determine if a patient with clinical indications of polycythaemia has a variant in the exon 12 region of the JAK2 gene.

Department

Genetics - Molecular Oncology

Delphic Registration Code

MONC

Laboratory Handling

Phlebotomy

2x EDTA (Lavender) dedicated to Genetics

Registration

Send to MONC

Turnaround Time

21 days

Test Code

8389

Specimen Type

• Whole Blood
• Bone Marrow

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Additional Specimen Information

Pre-Testing Requirements:
Negative for JAK2 V617F mutation
Low serum erythropoietin level
Hb >185/165 g/L (male/female)

8 ml peripheral blood in EDTA. 1-3 ml of bone marrow in EDTA or RPMI (anticoagulant). Send ambient to the laboratory.

Aliquot Instructions

Test Method

NOTE: As of February 2022 requests for JAK2 exon 12 mutation analysis will be processed through the Myeloid NGS Panel. All variants will be detected in JAK2 exon 12 with a sensitivity of 5%. Please refer to the Myeloid NGS Panel in Test Manager for more details and price.

JAK2 exon 12 mutation assay: PCR using primers that span the region commonly associated with acquired JAK2 exon 12 mutations, followed by fragment analysis using capillary electrophoresis, and allele-specific PCR. Approximately 80% of all currently known JAK2 exon 12 mutations are detected by this method including those commonly associated with polycythaemia.

Non-Funded Test Cost

$727.81 (Exclusive of GST)

Billing Code

8389

Additional Costing Information

Limit of detection approximately 1 abnormal cell in 20.

Approximately 80% of all currently known JAK2 exon 12 mutations are detected by this method including those commonly associated with polycythaemia.

Contact Information

Enquiry Form