OncoAlly® Hereditary Hematologic Cancer Analysis

OA015

OncoAlly® Hereditary Hematologic Cancer Analysis is a diagnostic test designed to identify genetic variants associated with hereditary hematologic cancers.

Test Description

OncoAlly® Hereditary Hematologic Cancer Analysis is a targeted test that uses a whole genome platform to detect all major clinically relevant variant types from a single sample. This targeted test focuses on 110 genes associated with lymphoid and myeloid malignancies.

For the set of targeted genes, OncoAlly® Hereditary Hematologic Cancer Analysis sequences and analyzes the entire gene. In comparison, most other hereditary cancer tests only sequence and analyze targeted regions of the gene, typically exons.

Having the full gene sequence allows us to detect all clinically relevant variant types with high specificity and sensitivity, including deletions, duplications, insertions and inversions of any size.

When to Order

Order this test when:

  • A patient has a personal medical history suggestive of a hereditary hematologic cancer.
  • A patient has a family history of hereditary hematologic cancer or bone marrow failure.
  • An individual is a potential donor for bone marrow or stem cell transplantation.

Included Genes

ANKRD26, AP3B1, ARID1A, ATG2B, ATM, BLM, BRCA1, BRCA2, BRIP1, CARD11, CASP10, CBL, CD27, CD40LG, CEBPA, CSF3R, CHEK2, CTC1, CTLA4, CXCR4, CTR9, DDX41, DIS3, DKC1, ERCC6L2, ERG, ETV6, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FAS (TNFRSF6), FASLG, GATA1, GATA2, GFI1, GSKIP, IKZF1, JAK2, KDM1A, KLHDC8B, MAGT1, MBD4, MECOM, MLH1, MPIG6B, MPL, MSH2, MSH6, NAF1, NBN, NF1, NHP2, NOP10, NPAT, PALB2, PARN, PAX5, PIK3CD, PIK3R1, PMS2, POT1, PTPN11, RAD51, RAD51C, RAF1, RBBP6, RIT1, RPL11, RPL15, RPL23, RPL26, RPL27, RPL31, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, RTEL1, RUNX1, SAMD9, SAMD9L, SBDS, SH2B3, SH2D1A, SHOC2, SOS1, TERC, TERT, TET2, TINF2, TNFRSF13B, TNFRSF9, TP53, UNC13D, USP45, XPC, ZCCHC8

View a list of cancers associated with each gene.

Included Analyses

  • Sequence analysis of hereditary hematologic cancer-associated genes including: single nucleotide variants, deletions, insertions, and characterized intronic variants.
  • Structural variant analysis of hereditary hematologic cancer-associated genes including: duplications/deletions, mobile element insertions, and inversions.

Optionally includes:

Turnaround Time

A report will be issued within 2 weeks from receipt of required samples. Turnaround time begins when samples and all required documents and approvals are received.

Note: If a skin biopsy sample is submitted, a report will be issued within 4-6 weeks.

Sample Types

Note: For individuals with active disease or those who have had an allogeneic bone marrow/stem cell transplant, skin biopsy is advised.

CPT Codes

81441

The CPT codes provided are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Methods and Limitations

OncoAlly® Hereditary Hematologic Analysis uses a PCR-free whole genome sequencing (WGS) platform paired with our Genomic Intelligence® analytical software.

SNVs:
99.8% sensitivity
100% specificity
99.9% positive predictive value

Structural variants:
96% clinical sensitivity

Test limitations:
The PMS2 gene (exons 13-15) contains regions that are non-unique, therefore not all variants can be assigned to the correct location, limiting interpretation. The ARID1A, CEPBA, and RUNX1 genes are not fully covered by this test, therefore there may be variants in certain regions of these genes that are not identified. Performance characteristics were not determined for the Boland inversion, therefore it may not be detected.