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
Genetic testing can be customized by clicking genes to remove them. This panel can be ordered with RASopathies and Noonan Spectrum Disorders Panel or Kabuki Syndrome Panel at no additional charge.
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
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)