NEW MarrowSeq™ - Bone marrow failure syndrome panel
MarrowSeq™ is a next-generation sequencing panel that is useful in the diagnostic evaluation of patients with bone marrow failure. This panel includes genes in which mutations are associated with familial myelodysplastic syndrome/acute leukemia predisposition syndromes and inherited marrow failure syndromes, including familial platelet disorder with propensity to myeloid malignancy, GATA2-related disorders, Fanconi anemia, Diamond Blackfan anemia, Shwachman-Diamond syndrome, dykeratosis congenita, congenital amegakaryocytic thrombocytopenia, severe congenital neutropenia, and others. The panel uses next-generation sequencing to detect most mutations in the genes listed above under Synonyms. The assay completely sequences all exons and 20 bp of intronic sequence flanking each exon of these genes, as well as several regulatory or intronic regions of specific genes containing known pathogenic variants. The panel also detects large deletions, duplications and mosaicism. Appropriate mutation-directed testing of select family members is recommended to confirm the inherited nature of any variant alleles found on this panel. This test is not intended for the evaluation of neoplastic conditions.
This assay sequences all exons and flanking intronic sequences of multiple genes associated with bone marrow failure. A total of 614 kb are sequenced and the average coverage ranges from 320 to >1,000 sequencing reads per bp. Genomic regions are captured using biotinylated RNA oliognucleotides (SureSelect), prepared in paired-end libraries with ~200 bp insert size, and sequenced on an Illumina HiSeq2500 instrument with 100 bp read lengths, in a modification of a procedure described by Pritchard et al. 2012 (1). Large deletions and duplications are detected using methods described by Nord et al. 2011 (2).
Genes Tested (assay version 3)
ABCB7, ADA, AK2, ANKRD26, ATM, ATR, ATRX, BLM, BRCA1, BRCA2, BRIP1, C15ORF41, CBL, CDAN1, CEBPA, CSF3R, CTC1, CXCR4, DKC1, ELANE, ERCC4, ETV6, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, G6PC3, GATA1, GATA2, GFI1, HAX1, IL2RG, JAGN1, JAK2, KIF23, KLF1, LIG4, LYST, MPL, MRE11A, NBN, NHP2, NOP10, PALB2, PAX5, RAB27A, RAD50, RAD51C, RBM8A, RMRP, RNF168, RPL10, RPL11, RPL26, RPL35A, RPL5, RPS10, RPS14, RPS17, RPS19, RPS24, RPS26, RPS7, RTEL1, RUNX1, SBDS, SEC23B, SLX4, SRP72, TAZ, TCIRG1, TERC, TERT, TINF2, TP53, USB1, VPS45, WAS, WRAP53
Specimen Requirements and Handling
10 mL whole blood in lavender top (EDTA) tube. ACD is also acceptable.
- To order kits, please call 1-800-713-5198.
- Ship specimen at room temperature for overnight delivery. Specimen can be held for up to 7 days before shipping if refrigerated.
Ship specimens to: UW MEDICAL CENTER LABORATORY MEDICINE - GENETICS LAB 1959 NE PACIFIC ST, ROOM NW220 SEATTLE, WA 98195-7110
For additional details regarding specimen collection, handling and transport, and for a link to our requisition form, see the Laboratory Medicine Online Test Guide for MRW
8 weeks (56 days)
CPT Codes & Pricing
For CPT codes, Click here.
For more information, also see the Laboratory Medicine Online Test Guide: Click here and enter "MARROWSEQ".
For pricing information, contact Reference Laboratory Services (206)685-6066 or (800)713-5198
Billing and Insurance Pre-Authorization
We offer insurance pre-authorization services.
email@example.com , 1-855-320-4869
No mutation detected.
For further information:
Other tests offered by the Genetics and Solid Tumor Diagnostic Laboratory
- Lab telephone: (206) 598-6429
- Supervisor: Robert Livingston, Ph.D.
- Genetic Counselor: Angela Jacobson, M.S., C.G.C.
- Genetic Counselor: Lauren Garrett M.S., C.G.C.
- Director: David Wu, M.D., PhD.
- Director: Eric Konnick, M.D.
- Director: Colin C. Pritchard, M.D., PhD.
- Director: Karen Stephens, Ph.D.
- Director: Jonathan Tait, M.D., Ph.D.
- Director: Brian H. Shirts M.D., Ph.D.
- Director: Christina Lockwood, Ph.D.