Invitae Fanconi Anemia Panel
Use
The Invitae Fanconi Anemia Panel analyzes genes associated with Fanconi anemia (FA), a condition characterized by progressive bone marrow failure, physical abnormalities, and increased risk of malignancy. Genetic testing of these genes can help confirm a clinical diagnosis, predict disease prognosis and progression, facilitate early detection of symptoms, inform family planning and genetic counseling, and promote enrollment in clinical trials.
Special Instructions
Not provided.
Limitations
The assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp, and exon-level deletions/duplications. Larger insertions/deletions may have reduced sensitivity. Single-exon copy number events may not be detected due to sequence properties or data quality. Structural rearrangements, complex sequences, some non-coding regions, and details like mosaicism may not be detectable. The test analyzes extracted genomic DNA, which may not represent the constitutional genome in rare cases (e.g., hematolymphoid neoplasm, bone marrow transplant).
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