NOTCH1 Mutation Analysis

Molecular

This test uses bi-directional sequencing on exons 26, 27, and 34 of NOTCH1 for detection of sequence variant mutations. Testing can be performed on plasma when adequate leukemic cells are not available.

Turnaround time

10 Days

Level of Service

Global

New York Approved: No

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

Bone Marrow Aspirate: 2 mL in EDTA tube.
Peripheral Blood: 5 mL in EDTA tube.
Note: Test is DNA-based. Please select Extract & Hold - DNA If specimen hold service is desired.

Storage and Transportation

Use cold pack for transport, making sure cold pack is not in direct contact with specimen. For fresh samples: refrigerate before shipping and ship same day as drawn whenever possible. Do not freeze. Please select extract & hold - DNA if specimen hold service is desired.

CPT Code(s)*

81407

*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.

Last Updated: August 27, 2025

Get in touch

Our Client Services team is on hand to help. Please call us at 866.776.5907, Option 3.