Stickler Syndrome Panel
Use
This test is intended for individuals with clinical or suspected diagnosis of Stickler syndrome, those with negative results from previous single-gene testing, individuals requiring differential diagnosis between Stickler syndrome and similar disorders, and those with prenatal ultrasound findings suggestive of multiple anomalies consistent with Stickler Syndrome, including Pierre-Robin sequence.
Special Instructions
STAT testing is available with a surcharge, and turnaround is 7 - 16 days with STAT option. Institutional pricing is available with sign-in. More testing options and targeted family testing are available after receiving initial report.
Limitations
The test performance and limitations are in accordance with standards by the College of American Pathologists (CAP) and Clinical Laboratory Improvements Amendments (CLIA) regulations. The test is not cleared or approved by the US FDA. Tests are performed at PreventionGenetics LLC.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Exome Platform: Blood, DNA, Buccal, Saliva, Tissue. Genome Platform: Blood, DNA.