Bone Marrow Failure NGS Panel

  • Panel Description
  • Test Description
  • CPT Codes
  • Resources

Panel Description

Bone marrow failure syndromes (BMFS) are inherited diseases that impede the bone marrow’s ability to produce blood cells. Bone marrow is a primary production source for red blood cells, white blood cells, and platelets. The production of all of these components can be affected by BMFS. The first adverse symptoms typically appear during childhood and progress with age. There is no cure for BMFS, but it can be managed with clinical intervention. This panel evaluates genes associated with various forms of BMFS including Fanconi anemia, dyskeratosis congenita, and Diamond-Blackfan anemia.This panel may be appropriate for individuals of any age with a personal or family history of BMFS. Patients exhibiting symptoms of various types of anemia, such as Diamond-Blackfan anemia, Fanconi anemia, and aplastic anemia, may have their diagnosis confirmed with this test. Additionally, those who have a personal and/or family history of head and neck cancers may benefit from this test.Patients identified with BMFS can benefit from assistive steps to manage symptoms. Management varies from person to person and depends on the genetic variant and the degree of bone marrow failure. Different types of management can include bone marrow transplants, transfusions, and/or pharmacological treatments. BMFS may increase a person's risk for cancer and other chronic health conditions. In cases where a chronic condition can’t be prevented, patients who receive regular screenings are more likely to receive a diagnosis in the early stages and get a headstart on treatment.

Genetic testing for BMFS can:
  • Establish or confirm the appropriate diagnosis
  • Identify risks for additional related symptoms
  • Result in more personalized treatment and symptom management
  • Potentially prevent the onset of a related chronic condition
  • Connect patients to relevant resources & support
  • Inform family members about their own risk factors
  • Provide options for family planning

Test Description

Print
  • Sequencing
  • Del/Dup
  • Rush / STAT
  • Exclude VUS
  • MCC
  • Duo/Trio
3-5 weeks
Call for details
AP3B1, BRCA2, BRIP1, CSF3R, CXCR4, DKC1, ELANE, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, G6PC3, GATA1, GATA2, GFI1, HAX1, LAMTOR2, LYST, MPL, NHP2, NOP10, PALB2, RAB27A, RAC2, RAD51C, RBM8A, RMRP, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, RTEL1, RUNX1, SBDS, SLC37A4, SLX4, SRP72, TAZ, TERC, TERT, TINF2, USB1, VPS13B, VPS45, WAS, WRAP53 ( 60 genes )
96% at 20x
DNA extracted from cultured fibroblasts should be submitted instead of blood/saliva/buccal samples from individuals who have undergone allogeneic bone marrow transplant and from patients with hematologic malignancy.‚Äč
All sequencing technologies have limitations. This analysis is performed by Next Generation Sequencing (NGS) and is designed to examine coding regions and splicing junctions. Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences, these may still occasionally interfere with the technical ability of the assay to identify pathogenic variant alleles in both sequencing and deletion/duplication analyses. Sanger sequencing is used to confirm variants with low quality scores and to meet coverage standards. If ordered, deletion/duplication analysis can identify alterations of genomic regions which include one whole gene (buccal swab specimens and whole blood specimens) and are two or more contiguous exons in size (whole blood specimens only); single exon deletions or duplications may occasionally be identified, but are not routinely detected by this test. Identified putative deletions or duplications are confirmed by an orthogonal method (qPCR or MLPA). This assay will not detect certain types of genomic alterations which may cause disease such as, but not limited to, translocations or inversions, repeat expansions (eg. trinucleotides or hexanucleotides), alterations in most regulatory regions (promoter regions) or deep intronic regions (greater than 20bp from an exon). This assay is not designed or validated for the detection of somatic mosaicism or somatic mutations.

CPT Code 81407, 81408, 81479

NOTE:  The CPT codes listed on the website are in accordance with Current Procedural Terminology, a publication of the American Medical Association. CPT codes are provided here for the convenience of our clients. Clients who bill for services should make the final decision on which codes to use.

Resources

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Bone Marrow Failure