MarrowSeq™ Hereditary Bone Marrow Failure Panel

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General Information

Lab Name
MarrowSeq Panel
Lab Code
MRW
Epic Ordering
MarrowSeq Panel
Description

MarrowSeq™ panel 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.

References

Nord AS, Lee M, King MC, and Walsh T. Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics 2011, 12:184. 21486468

Pritchard CC, et al. ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing. J Mol Diagn 2012, 14:357-66. 22658618

Forms & Requisitions

Requisition Form and Ordering Instructions:

  1. Fill out a Genetics Requisition Form
  2. Check "MarrowSeq Panel"

Genetics Preauthorization Form (preauthorization is only done for providers who are external to the UW system)

Synonyms
ABCB7, ADA, AK2, ANKRD26, ATM, ATR, ATRX, BLM, BRCA1, BRCA2, BRIP1, C15ORF41, CBL, CDAN1, CEBPA, CSF3R, CTC1, CXCR4, DKC1, Diamond Blackfan anemia, ELA2, ELANE, ERCC4, ETV6, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, Fanconi anemia, 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, Shwachman-Diamond syndrome, TAZ, TCIRG1, TERC, TERT, TINF2, TP53, USB1, VPS45, WAS, WRAP53, bone marrow failure, congenital amegakaryocytic thrombocytopenia, congenital neutropenia, dyskeratosis congenita, familial bone marrow failure
Components

Interpretation

Method

Next-generation sequencing.

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. Large deletions and duplications are detected using methods described by Nord et al. 2011.

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

Reference Range
See individual components
Ref. Range Notes

No mutations detected.

References

Nord AS, Lee M, King MC, and Walsh T. Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics 2011, 12:184. 21486468

Pritchard CC, et al. ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing. J Mol Diagn 2012, 14:357-66. 22658618

Guidelines

Ordering & Collection

Specimen Type
Peripheral Blood, cultured cells from skin biopsy, purified DNA from peripheral blood or cultured cells
Collection

BLOOD:

  • 10 mL whole blood in LAVENDER TOP EDTA tube.
  • Also acceptable: YELLOW TOP ACD tube, purified DNA from peripheral blood or cultured cells.

SKIN BIOPSY:

  • Collection and transport: Obtain 2-4 mm punch biopsy of skin sample under sterile conditions and place in transport media (e.g. Alpha-MEM media, RPMI). Transport media can be supplied by the lab; call 206-598-4488 to request. If transport media is not available, the following media are acceptable alternatives if shipping time will not exceed 24 hours: lactated Ringer's solution, viral transport medium, or sterile saline. DO NOT USE formaldehyde, formalin, alcohol, or 5% dextrose, or tissue culture medium buffered with bicarbonate.

CULTURED CELLS:

  • (2) T23 or (1) T75 flask (minimum 1-T25 flask)*.

*Prenatal testing requires concomitant testing for maternal cell contamination (see Online Test Guide [[MCC]] for ordering and specimen requirements)

Forms & Requisitions

Requisition Form and Ordering Instructions:

  1. Fill out a Genetics Requisition Form
  2. Check "MarrowSeq Panel"

Genetics Preauthorization Form (preauthorization is only done for providers who are external to the UW system)

Handling Instructions

Ship specimen at room temperature for overnight delivery.

Blood specimens 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

Quantity
requested: Entire sample
minimum: 5 mL whole blood

Processing

Processing

Blood: Refrigerate whole blood

Unacceptable Conditions: Frozen or clotted specimens

Stability (collection to initiation of testing): Ambient: 5 days; Refrigerated: 7 days; Frozen: Unacceptable

Purified DNA: Refrigerate DNA specimens. Frozen is acceptable.

Performance

LIS Dept Code
Genetics (GEN)
Performing Location(s)
UW-MT Genetics

Attention: Genetics Lab
Clinical lab, Room NW220
University of Washington Medical Center
1959 NE Pacific Street
Seattle, WA 98195

Tel: 206-598–6429 M–F (7:30 AM–4:00 PM)
Fax: 206-598–0304
Lab email: genelab@uw.edu

Tel (EXOME only): 206-543-0459

Manager

Rebecca Gaulin, rgaulin@uw.edu

Genetic Counselors

Angela Jacobson, MS, LGC agibson@uw.edu
Sarah Paolucci, MA, MS, LGC, spaolucc@uw.edu
Jenna Huey, MS, LGC, jlhuey@uw.edu
Sandra Coe, MS,LGC, scoe20@uw.edu
Dru Leistritz, MS, LGC, dru2@uw.edu (EXOME testing only)

Variant Review Scientist

Ankita Jhuraney, PhD

Faculty

Colin C. Pritchard, MD, PhD
Brian H. Shirts, MD, PhD
Christina Lockwood, PhD, DABCC
Stephen Salipante, MD, PhD
Eric Konnick, MD, MS
Niklas Krumm, MD,PhD
Vera Paulson, MD, PhD
Jillian Buchan, PhD, FACMG

Frequency
Results within 4-6 weeks, from sample receipt in laboratory.
Available STAT?
No

Billing & Coding

CPT codes
Billing Comments

For additional test/billing information, see following page: MarrowSeq™ CPT codes.

For pricing information, contact Client Support Services 206-520-4600 or 800-713-5198.

Billing and Insurance Pre-Authorization

We offer insurance pre-authorization services (preauthorization is only done for providers who are external to the UW system).

Email: ngsbill@uw.edu or call 1-855-320-4869 for more information.

Genetics Preauthorization Form

LOINC