The Bone Marrow Failure Region of Interest is designed in collaboration with hematology experts at Boston Childrens Hospital who identified comprehensiveness and rapid turnaround time as critical elements to a Bone Marrow Failure next-generation sequencing test.
This Region of Interest covers 86 genes, making it the most comprehensive BMF sequencing test on the market. With a 4 week turnaround time for the Rapid Report, physicians and their patients will receive initial results quickly, allowing them to make treatment and management decisions more rapidly. The Complete Report, which includes additional clinically-relevant, confirmed variants and the results of the companion deletion/duplication analysis, if ordered, is available in additional 7 weeks.
In the case of a non-diagnostic finding, ordering providers have the option to go beyond the Region of Interest test after receiving the Complete Report, by ordering an expansion to the Claritas Clinical Exome (Test Code N0527). A new sample will not need to be submitted. Interpretation will be provided in a new report that will be available in 12-14 weeks.
- Assesses 86 genes associated with inherited Bone Marrow Failure. Gene list is updated based on input from Claritas scientists and partners.
- Orthogonally-confirmed variants demonstrate high specificity (PPV~99.998%)
- Orthogonal approach using Illumina NextSeq with simultaneous confirmation of 95% of variants on the LIFE Ion Proton
- Remaining 5% of variants are Sanger sequenced so that all reported variants are confirmed
- Mean coverage of >100x for both the Illumina NextSeq and LIFE Ion Proton
- Exons +/- 10bp, relevant 5UTR, 3UTR, and promoter/regulatory regions are evaluated.
- Trios are encouraged, but not required
- As deletions or duplications >5 base pairs are not always detected by this assay, a companion deletion/duplication array with up to single exon resolution is available (Test Code C0974). This increases the detection ability for clinically relevant results.
- This entry is for the Trio which includes testing of the Proband and biological parents. See Test Code N0030 for the Proband Only order.
- Providers may order the BMF-ROI standard gene list (see below for the list of genes analyzed) or without BRCA1 and BRCA2.
- The ROI includes analysis of the ACMG56 genes (a list of 56 genes recommended by the American College of Genetics and Genomics, variants in which can lead to health issues and have evidence-based management and/or treatment plans) only to the extent that they are in the gene lists being ordered. However, if a provider orders the Expansion into the Claritas Clinical Exome after the initial analysis, the ACMG56 genes will be examined. Providers who request the Expansion into the Claritas Clinical Exome should discuss the ACMG56 with the patient. More information about the ACMG56 is available in the Claritas Clinical Exome Informed Consent Guide. It is Claritas policy to report on the ACMG56 in the patient unless the patient opts out. Only those findings that are identified in the patient will be evaluated in the parental samples. The proband and the parent(s) may choose to opt-out of having the ACMG56 evaluated. See the Secondary Findings signature page on the requisition form for more details. Note that if the proband opts out, the parent samples will not be evaluated for the ACMG56.
Additional Service Highlights
- Providers may request a review of variant classification at any time.
- Providers may access the Interpretive Genomics Service at Boston Childrens Hospital, which provides consultation with experts in genes and/or phenotypes. Please contact [email protected] for more information.
- Claritas Genomics will release raw data files or provide access to exome data via NextCODE to authorized health care providers. Review Data Return Program details here.