Invitae Stickler Syndrome Panel
Use
Genetic testing for genes associated with Stickler syndrome is generally characterized by skeletal, ocular, facial, and audiological abnormalities. These clinical features overlap with other genetic conditions such as Donnai-Barrow syndrome and Wagner syndrome, which are also included in this panel. Stickler syndrome is genetically heterogeneous, and broad panel testing allows for an efficient evaluation of many potentially relevant genes based on a single clinical indication. Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant can guide genetic counseling and inform recurrence-risk assessment.
Special Instructions
Preferred specimen is 3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA). Alternate specimens such as saliva, buccal swab, and gDNA are also accepted. Contact client services for questions.
Limitations
The assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions, and deletions <15bp in length, and exon-level deletions and duplications. Limitations include potentially reduced sensitivity for insertions and deletions larger than 15bp but smaller than a full exon. Some structural rearrangements may not be detected, and it may not be possible to resolve details about variants such as mosaicism or phasing. Sequence changes in non-coding regions are generally not covered unless specified. Very rare situations, such as circulating neoplasms or recent transfusions, may affect analysis.
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)