Holt-Oram Syndrome (HOS) via the TBX5 Gene
Use
The test is designed for individuals with relevant features who have a clinical or suspected diagnosis of Holt-Oram syndrome, or for those with a family member with presumed Holt-Oram syndrome without previous genetic testing. It is also suitable for individuals without access to specific variant information for a family member with genetically-confirmed Holt-Oram syndrome.
Special Instructions
For ordering, users can sign in for standard institutional pricing or use the test requisition form to fax the order if not ordering online through myPrevent. Additional options include exome-wide CNV analysis and STAT testing, with a surcharge adding 25% to the price.
Limitations
The performance characteristics of these tests have been validated by PreventionGenetics LLC following CAP and CLIA regulations, but they have not been cleared or approved by the US Food and Drug Administration.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
2-3 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided