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Alternative Name
NOTCH1 Gene Sequencing
Test Description

Bi-directional sequencing of exons 26, 27, and 34 is performed for detection of sequence variant mutations. Testing can be performed on plasma when adequate leukemic cells are not available.

Clinical Significance

NOTCH1 mutations are common in T-ALL, CLL, and mantle cell lymphoma. Mutations in ALL are associated with good prognosis, while mutations in CLL and mantle cell lymphoma are associated with poor prognosis.

Specimen Requirements
  • Peripheral blood: 5 mL in EDTA tube.
  • Bone marrow: 2 mL in EDTA tube.
Storage and Transportation

Use cold pack for transport, making sure cold pack is not in direct contact with specimen.

CPT Code(s)*
Turnaround Time

10 days

Level of Service

*The CPT codes provided with our test descriptions are based on AMA guidelines and are for informational purposes only. Correct CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed.