Invitae Cohen Syndrome Test
Use
The Invitae Cohen syndrome test analyzes VPS13B, a gene associated with Cohen syndrome, a multisystem disorder characterized by developmental delay, intellectual disability, microcephaly, hypotonia, and truncal obesity. Genetic testing of this gene may confirm a diagnosis and help guide treatment and management. Identification of a disease-causing variant can inform recurrence-risk assessment and genetic counseling.
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 and duplications. Detection of larger insertions/deletions may have marginally reduced sensitivity. Structural rearrangements, complex sequence regions, and certain variant details such as mosaicism, phasing, or mapping ambiguity may not be fully resolved. Non-coding regions and promoter sequences are generally excluded unless explicitly covered.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
VPS13B
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