• Test Code:
    1085
  • Department:
    Molecular Genetics
  • Test Synonyms:
    Aplastic anemia • Fanconi anemia • Diamond Blackfan anemia • Shwachman Diamond anemia • Dyskeratosis congentia • Myelodysplastic anemia • 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
  • CPT Code(s):
    81216 • 81405 • 81406 • 81479x40
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:

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