NEW MarrowSeq™ - Bone marrow failure syndrome panel

Questions: 1-800-713-5198

Background

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.

Methods

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

Requisition Form

UWMC Genetics Requisition

Specimen Requirements and Handling


10 mL whole blood in lavender top (EDTA) tube. ACD is also acceptable.

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

Turnaround Time


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


Reference Range

No mutation detected.

Further Information

For further information:

References

genetics/MRW (last modified 2015-09-09 10:55:59)