Invitae Diamond-Blackfan Anemia Panel
Use
The Invitae Diamond-Blackfan Anemia Panel analyzes genes associated with Diamond-Blackfan anemia (DBA). The clinical features associated with DBA include anemia, congenital malformations, poor growth, and an increased risk for hematologic malignancy and solid tumors. Genetic testing of these genes may help confirm a clinical diagnosis, help predict disease prognosis and progression, facilitate early detection of symptoms, inform family planning and genetic counseling, or promote enrollment in clinical trials.
Special Instructions
Not provided.
Limitations
Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Sensitivity for insertions and deletions larger than 15bp but smaller than a full exon may be marginally reduced. Single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Structural rearrangements, such as inversions, gene conversion events, and translocations, or variants embedded in sequence with complex architecture, may not be detected. Sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay.
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)
Other tests from different labs that may be relevant