Lab Test

Test Definition Number : 158
Test Definition Name : Gene sequencing panel (31-50 genes)
Lab Name : OHSU Knight Diagnostics Lab
Lab Test Number of THIS Version : 1174
Lab Test Name : Bone Marrow Failure Panel
Status : Active
Expired : No
Updated : 2018-01-27 21:50 EST

General Attributes

Chromosome Band :
HUGO Gene Name :
ICD-Oncology Code
(includes WHO classification diagnoses)

Infectious Disease Attributes

Agent Category :
Non-virus Genus and Species :
Virus Family, Genus, and Species :

Lab-specific Attributes

Method : Sequencing - Next Generation (Massively Parallel) (NGS)
Specimen Source
(for clinical patient care these sources must be validated)
: Blood - Whole Blood
ICD-10 Code :
Use :
Genetics Category : Germline (inherited)
Comments : 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: 1. Genetic diagnosis for patients with bone marrow failure 2. 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 Transport Requirements : 5-10mL Blood (ACD or EDTA) Package and ship specimens to remain cold, but not frozen. Ship via overnight express. Contact Client Services at (855) 535-1522 for shipping kits and instructions.
Samples Available for Proficiency Test Sample Exchange : Yes


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