Genomic Unity® Pediatric Hematologic Disorders Analysis

UO006

Genomic Unity® Pediatric Hematologic Disorders Analysis is a diagnostic test designed to identify genetic variants associated with hereditary hematologic cancers, bone marrow failure, and immunodeficiency disorders.

Test Description

Genomic Unity® Pediatric Hematologic Disorders 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 140 genes associated with hereditary hematologic cancers, bone marrow failure, and immunodeficiency disorders.

Genomic Unity® Pediatric Hematologic Disorders Analysis provides a single, unified clinical report that replaces a battery of tests including: targeted gene panel, single gene analysis, and multiplex ligation dependent probe amplification (MLPA).

When to Order

Order this test when clinical symptoms are consistent with hereditary hematologic cancer, bone marrow failure, or immunodeficiency, or when there is a family history.

Included Genes

ACD, AK2, ALAS2, ANKRD26, AP3B1, ATG2B, ATM, BLM, BRCA1, BRCA2, BRIP1, BTK, CARD11, CARMIL2, CASP10, CASP8, CBL, CD27, CD40LG, CD70, CEBPA, CLPB, CSF3R, CHEK2, CTC1, CTLA4, CTPS1, CXCR4, DKC1, DNAJC21, DOCK8, EFL1, ELANE, ERCC6L2, ERG, ETV6, FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FAS (TNFRSF6), FASLG, FCHO1, G6PC3, GATA1, GATA2, GFI1, GSKIP, HAX1, IKZF1, IL2RA, IL2RB, ITK, JAGN1, JAK2, LIG4, LYST, LZTR1, MAGT1, MBD4, MCM4, MECOM, MLH1, MPIG6B, MPL, MSH2, MSH6, NBN, NF1, NHP2, NOP10, PALB2, PARN, PAX5, PGM3, PIK3CD, PIK3R1, PMS2, PRF1, PRKCD, PTPN11, RAB27A, RAC2, RAD51, RAD51C, RAF1, RASGRP1, RBBP6, RHOH, RIT1, RMRP, 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, SLX4, SMARCD2, SOS1, SRP72, STAT3, STK4, STXBP2, TERC, TERT, THPO, TINF2, TP53, TPP2, UBE2T, VPS45, WRAP53, XPC, ZNF341

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.
  • Copy number 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. 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

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

SNVs:
99.9% sensitivity
99.9% specificity
99.8% 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 CEPBA, DNAJC21, 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.