• Test Code:
    1085
  • Department:
  • Test Synonyms:
    Aplastic anemiaFanconi anemiaDiamond Blackfan anemiaShwachman Diamond anemiaDyskeratosis congentiaMyelodysplastic anemiaBRCA2BRIP1CTC1DKC1ERCC4FANCAFANCBFANCC FANCD2FANCEFANCFFANCGFANCIFANCLFANCMGATA1MPLNBNNHP2NOP10PALB2PRF1RAD51CRPL11RPL35ARPL36 RPL5RPS10RPS15RPS19RPS24RPS26RPS27ARPS7SBDSSLX4SRP72TERTTHPOTINF2USB1WRAP53XRCC2
  • CPT Code(s):
    81216814058140681479x40
Background:

Inherited bone marrow failure syndromes are a group of disorders characterized by the inability to sufficiently produce red blood cells, white blood cells or platelets. These conditions are caused by mutations in genes involved in ribosome assembly, DNA repair, and telomere maintenance and are associated with Fanconi anemias, Diamond Blackfan anemia, Shwachman Diamond syndrome, dyskeratosis congentia, aplastic anemias, and myelodysplastic anemia syndromes. This next-generation sequencing tests the coding regions for 43 genes that are associated with these conditions. These may be inherited as autosomal recessive, dominant or X-linked pattern.

Reasons for Referral:

  • Genetic diagnosis  for patients with bone marrow failure
  • Carrier testing

Methodology:

Next generation sequencing will analyze the exons or coding regions of 43 Bone Marrow Failure-associated genes using Illumina NextSeq 500 technology.  Samples are prepared using hybridization probes to enrich exonic regions.  Promoter, intronic, etc. regions are not assessed on our assay, but may contain variants that impact gene function.

The 43 Bone Marrow Failure-associated genes are listed below:
BRCA2, BRIP1, CTC1, DKC1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, GATA1, MPL, NBN, NHP2, NOP10, PALB2, PRF1, RAD51C, RPL11, RPL35A, RPL36, RPL5, RPS10, RPS15, RPS19, RPS24, RPS26, RPS27A, RPS7, SBDS, SLX4, SRP72, TERT, THPO, TINF2, USB1, WRAP53, XRCC2

Specimen Requirements:

Blood:  EDTA or ACD (Solution A or B):

  • Adult: 5 mL
  • Child: 5 mL
  • Infant: 2-3 mL

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information, including ethnicity, clinical history, and family history.

Test Performed (Days):

Weekly

Turn Around Time:

8 weeks

Shipment Sensitivity Requirements:

  • Package and ship specimen to remain cold, but not frozen. 
  • Ship via overnight express, using the FedEx priority overnight label provided. 
  • Contact Client Services for shipping kits and instructions at (855) 535-1522.

References:

  1. Haematologica. 2010 Aug; 95(8): 1236–1240

Additional Info:

The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

Learn More