Invitae Baraitser-Winter Cerebrofrontofacial Syndrome Panel
Use
The Invitae Baraitser-Winter Cerebrofrontofacial Syndrome Panel analyzes two genes associated with Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome. This syndrome is characterized by a range of symptoms including brain anomalies, facial features, short stature, heart defects, hearing loss, and muscle wasting. Testing these genes helps confirm diagnosis, guide treatment, inform recurrence-risk assessment, and assist in genetic counseling.
Special Instructions
Not provided.
Limitations
The test has >99% analytical sensitivity and specificity for SNVs, indels <15bp, and exon-level deletions/duplications. Larger indels may have reduced sensitivity. Certain structural variants and those in complex regions may not be detected. Mosaicism, phasing, and mapping ambiguity might not be fully resolved. Non-coding changes, unless covered, are not guaranteed to be detected.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
ACTB, ACTG1
Gene
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