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.
NOTCH1 Mutation Analysis
- Molecular
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
Turnaround time
10 Days
Level of Service
- Global
Integrations
Request electronic integrations →
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.
*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.
Biomarkers
DNA Sequencing
| SNVs + Indels | |||||
|---|---|---|---|---|---|
| NOTCH1 | |||||
Last Updated: October 17, 2025