Invitae Bone Marrow Failure Syndromes Panel
Use
The Invitae Bone Marrow Failure Syndromes Panel analyzes genes associated with bone marrow failure, a condition marked by the body's inability to produce enough healthy blood cells. Given the genetic heterogeneity of bone marrow failure syndromes, genetic testing across a broad panel of genes provides efficient evaluation based on a single clinical indication. This panel helps confirm clinical diagnoses, predict disease prognosis and progression, detect symptoms early, inform family planning and genetic counseling, and facilitate involvement in clinical trials. The test aims to identify heritable germline mutations, not somatic mutations.
Special Instructions
If a patient has undergone an allogeneic bone marrow or stem cell transplant before genetic testing or currently has a condition with actively circulating tumor cells, using a sample type not derived from blood is recommended. For more details on specimen selection, contact Invitae's Clinical team.
Limitations
The test achieves high analytical sensitivity and specificity for variants <15bp and certain copy number changes. However, large structural variants, complex rearrangements, or variants in promoter and non-coding regions may not be detected or fully resolved. Some details like mosaicism or phasing may remain unresolved. Single-exon events might not be analyzed under specific conditions.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)