Molecular Genetics Bone Marrow Failure Panel

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Test Code:

1085
Department:

Molecular Genetics
Test Synonyms:

Aplastic anemia • Fanconi anemia • Diamond Blackfan anemia • Shwachman Diamond anemia • Dyskeratosis congentia • Myelodysplastic anemia • BRCA1 • BRCA2 • BRIP1 • CTC1 • DKC1 • ERCC4 • FANCA • FANCB • FANCC • FANCD2 • FANCE • FANCF • FANCG • FANCI • FANCL • FANCM • GATA1 • MPL • NBN • NHP2 • NOP10 • PALB2 • PRF1 • RAD51 • RAD51C • RPL11 • RPL35A • RPL36 • RPL5 • RPS10 • RPS15 • RPS19 • RPS24 • RPS26 • RPS27A • RPS7 • SBDS • SLX4 • SRP72 • TERT • THPO • TINF2 • USB1 • WRAP53 • XRCC2
CPT Code(s):

81406

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 45 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 45 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 45 Bone Marrow Failure-associated genes are listed below:
BRCA1, BRCA2, BRIP1, CTC1, DKC1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, GATA1, MPL, NBN, NHP2, NOP10, PALB2, PRF1, RAD51, 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

Saliva: 2 ORAgene™ Saliva Collection Kit(s) (OGR-500) used according to manufacturer instructions. Please contact KDL Client Services for a Saliva Collection Kit for patients that cannot provide a blood sample.

Skin Fibroblast: Punch Biopsy (Cell cultures will be prepared at KDL and used for testing), or 2 T-25 confluent flasks.

DNA: 3-4 µg at a minimum of 60-100ng/µL (DNA must be extracted in a CLIA-certified laboratory or a laboratory meeting equivalent requirements as determined by the CAP and/or CMS)

For routine testing of blood and saliva (or DNA extracted from them), KDL does NOT accept samples from patients within two (2) weeks of a packed cell/platelet transfusion or within four (4) weeks of a whole blood transfusion. For extraordinary circumstances, where testing must be performed outside of the above windows, please contact our lab.

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: