Invitae Carpenter Syndrome Panel
Use
The Invitae Carpenter Syndrome Panel analyzes two genes associated with Carpenter syndrome, a disorder characterized by multiple congenital malformations. Genetic testing of these genes can confirm a diagnosis, guide treatment and medical management, and inform recurrence-risk assessment and genetic counseling.
Special Instructions
The panel allows customization by clicking to remove genes. It is New York approved. Alternate specimens such as saliva, buccal swab, and genomic DNA (gDNA) are accepted in addition to whole blood.
Limitations
While the assay achieves >99% sensitivity and specificity for single nucleotide variants, insertions, and deletions <15bp, larger indels and specific variant types like structural rearrangements may not be detected. In rare situations, single-exon events may not be analyzed due to sequence properties or data quality. Non-coding regions and some complex sequences are not covered, and certain details like mosaicism might not be resolved.
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)