BPGM Full Gene Sequencing

Test Code

39314

CPT Codes
81479

Preferred Specimen

4 mL peripheral blood collected in an EDTA (lavender-top) tube

Patient Preparation
Bone marrow transplants preclude accurate germline and mutation analysis. Please inform the laboratory if this patient has undergone bone marrow transplantation. On rare occasions transfusion of blood products can preclude accurate mutation analysis and results should be interpreted with caution if performed after recent transfusion (within 4 months).

Minimum Volume

1 mL peripheral blood • 1.5 mL extracted DNA

Other Acceptable Specimens

Peripheral blood collected in: ACD (yellow-top) tube, or sodium heparin (green-top) tube • 2 mL extracted DNA collected in a transport tube

Instructions

New York Clients-Informed consent is required
Specimens must arrive within 7 days (168 hours) of collection.

Peripheral blood:
1. Invert several times to mix blood.
2. Send specimen in the original tube.

Extracted DNA:
Label specimen as extracted DNA from blood and provide indication of volume and concentration of the DNA

Transport Temperature

Peripheral blood: Room temperature
Extracted DNA: Frozen

Specimen Stability

Peripheral blood
Room temperature: 7 days
Refrigerated: 7 days
Frozen: Unacceptable

Extracted DNA
Room temperature: Indefinitely
Refrigerated: Indefinitely
Frozen: Indefinitely

Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)

Gross hemolysis • Bone marrow • Paraffin-embedded tissue • Frozen tissue • Paraffin-embedded bone marrow aspirate clot • Methanol-acetic acid (MAA)-fixed pellets • Moderately to severely clotted

Methodology
Polymerase Chain Reaction • Sanger Sequencing

Setup Schedule

Monday-Friday Morning Report available: 10 Days

Reference Range

See Laboratory Report

Clinical Significance

Diagnosis of 2,3-bisphosphoglycerate mutase deficiency in
individuals with lifelong, unexplained erythrocytosis.
Identifying
mutation carriers in family members of an affected
individual for the purposes of preconception genetic
counseling.

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.