MPL Mutation PCR

Diagnostic Use

Test to determine if a patient with clinical indications of a myeloproliferative disorder has a MPL gene variant.

Department

Genetics - Molecular Oncology

Delphic Registration Code

MONC

Laboratory Handling

Phlebotomy

1x EDTA (Lavender) dedicated to Genetics (only one tube needed for JAK2/CALR/MPL testing)

Registration

Send to MONC

Turnaround Time

28 days

Specimen Type

• Whole Blood

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Additional Specimen Information

Pre-Testing Requirements:
JAK2 V617F and CALR mutation analysis should be performed and negative before ordering MPL mutation testing on patients with clinical indicators of essential thrombocythemia or primary myelofibrosis.
We store all extracted DNA - please contact the laboratory if you would like MPL mutation testing performed on the same DNA that was used for JAK2 V617F and CALR mutation testing.
Otherwise 4 ml peripheral blood in EDTA. Send ambient to the laboratory.

Aliquot Instructions

Interpretation

Detection of a MPL mutation is consistent with diagnosis of a myeloproliferative neoplasm.

Reference Intervals

Not applicable.

Test Method

Allele-specific PCR to detect the two most common somatic MPL mutations associated with myeloproliferative neoplasms (Takei, H. et al., PLoS ONE 9(8): e104958).

NM_005373.2(MPL):c.1544G>T p.(Trp515Leu) commonly referred to as MPL W515L
NM_005373.2(MPL):c.1543_1544delinsAA p.(Trp515Lys) commonly referred to as MPL W515K

Limit of Detection: 1% mutant MPL copies over total MPL gene copies.

Non-Funded Test Cost

$292.44 (Exclusive of GST)

Billing Code

9572

Additional Costing Information

Limit of Detection: 1% mutant MPL copies over total MPL gene copies.

Contact Information

Enquiry Form