Ph-like ALL Gene Fusion and Mutation Detection with Interpretation

Label Mnemonic:	HEMEALL
Epic code:	LAB8912
Downtime form:	Doctor/Provider Orders - Pathology Molecular

Molecular Pathology
6240 RCP
384-9568

Specimen(s):

Blood, Bone Marrow Aspirate, Tissue

Specimen Instructions:

Testing requires dedicated collection tube.

Collection Medium:

Pink top tube 6 mL (K2-EDTA)

Minimum:

Whole blood (EDTA anti-coagulated; 6 mL pink top tube) or bone marrow aspirate (EDTA anti-coagulated; pink or lavender top tube) or tissue formalin fixed and paraffin embedded.

Rejection Criteria:

Tumor specimens containing less than 20% tumor cells may be unacceptable.

Delivery Instructions:

Store and send whole blood refrigerated. DO NOT CENTRIFUGE.

Testing Schedule:

Testing is batched.

Turn Around Time:

7-10 days upon receipt in laboratory

Comments:

Philadelphia chromosome (Ph)-like ALL, also referred to as BCR-ABL1 negative ALL, is a high-risk subset of ALL with a gene expression profile that shares significant overlap with that of BCR-ABL1 positive ALL and is suggestive of activated kinase signaling. Ph-like ALL cases contain a variety of genomic alterations that activate kinase and cytokine receptor signaling.

This assay is used to detect these alternative RNA fusions and variants in the following genes: common variants in BRAF, IKZF1, IL7R, JAK1, JAK3, KRAS, NRAS, and SH2B3, and fusion transcripts involving rearrangements of ABL1, ABL2, BLNK3, CBL3, CRLF2, CSF1R, DGKH3, EPOR, FGFR1, FLT3, IKZF1, IL2RB, JAK2, LYN3, NTRK3, PDGFRA, PDGFRB, PTK2B, TSLP, and TYK2.

Results Reported: Fusion or variants detected.

Methodology:

Reverse transcription, anchored multiplexed PCR for targeted next-generation sequencing is performed on RNA isolated from bone marrow, blood or formalin-fixed paraffin embedded tissue.

CPT Code:

81450