TNXB-Related Disorders via the TNXB Gene
Use
This test is intended for individuals with a clinical or suspected diagnosis of classical-like Ehlers-Danlos syndrome (clEDS) or hypermobility EDS (hEDS), those with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) and hypermobility EDS (also known as CAH-X syndrome), individuals with a family history of TNXB-related disorders, and reproductive partners of individuals with a known pathogenic variant in the TNXB gene.
Special Instructions
The test utilizes NGS with CNV on either Exome or Genome platforms. There are different specimen requirements based on the platform selected. Additional testing options such as Exome-Wide CNV Analysis, Prenatal Testing, and STAT Testing are available.
Limitations
The test does not have FDA clearance or approval and must be ordered by a qualified healthcare provider. Specimen types and volume requirements vary depending on the platform selected, which may limit the applicability of test results across different specimen types.
New York Approved
Methodology
NGS
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