MPL Mutation Detection by Capillary Electrophoresis

Also known as: MPL

Clinical Use

Use

This test is designed to detect mutations W515K, W515L, W515A, and S505N in exon 10 of the MPL gene. Detection of MPL mutations is used for diagnosing patients with myeloproliferative neoplasms and suggests a diagnosis of either primary myelofibrosis (PMF) or essential thrombocythemia (ET) in a subset of patients who are negative for mutations in the JAK2 gene.

Special Instructions

Not provided.

Limitations

This test will not detect mutations other than those specified (W515K, W515L, W515A, S505N) or mutations in other locations within the MPL gene or in other genes. It has a detection limit of 5 percent mutant allele and should not be used alone for a diagnosis of malignancy. It is not intended to detect minimal residual disease and must be interpreted within the context of additional clinical data.

Test Details

New York Approved

Methodology

Other

Biomarkers

No genes

Gene

W515K

Mutation • Categorical (e.g., Positive / Negative / Indeterminate)

W515L

Mutation • Categorical (e.g., Positive / Negative / Indeterminate)

W515A

Mutation • Categorical (e.g., Positive / Negative / Indeterminate)

S505N

Mutation • Categorical (e.g., Positive / Negative / Indeterminate)

LOINC Codes

Result Codes

62948-5 - MPL gene Mut Tested Bld/T
31208-2 - Specimen source

Result Turnaround Time

7-12 days

Specimen

Whole Blood

Volume

5 mL

Minimum Volume

1 mL

Container

lavender (EDTA)

Collection Instructions

Do not freeze whole blood.

Storage Instructions

Refrigerated. Do not freeze.

Causes for Rejection

Plasma, serum, FFPE tissue blocks/slides, or frozen tissue. Specimens collected in anticoagulants other than EDTA. Clotted or grossly hemolyzed specimens.