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Alternative Name
JMML Profile, Juvenile Myelomonocytic Leukemia Profile
Test Description

This test is performed by sequencing the entire coding regions of the genes listed. BRAF, CBL, CEBPA, FLT3, HRAS, JAK2 including V617F and Exons 12+14, JAK3, KIT, KRAS, NPM1, NRAS, PDGFRA, PTEN, PTPN11, and SETBP1. FLT3 is performed by multiple methods. Individual genes from a validated list of myeloid genes can be added-on. Test orders include summary interpretation of all results together.

Clinical Significance

The NeoTYPE JMML Profile detects mutations that diagnose and assess prognosis of juvenile myelomonocytic leukemia. Testing helps differentiate JMML from leukemoid reactions or other reactive processes. PTPN11 mutations are associated with worse prognosis than other mutations including NRAS and KRAS. Conversely, NRAS or KRAS mutations may be linked to more favorable outcomes.

Specimen Requirements
  • Bone marrow (Preferred): 2 mL in EDTA tube.
  • Peripheral blood: 5 mL in EDTA tube.
  • FFPE tissue: Paraffin block. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative is the recommended fixative. Do not use zinc or mercury fixatives (B5). Highly acidic or prolonged decalcification processes will not yield sufficient nucleic acid to accurately perform molecular studies.
Storage and Transportation

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

CPT Code(s)*
Turnaround Time

14 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.