TNXB-Related Disorders via the TNXB Gene, Exons 32-44
Use
This test is designed for individuals with a clinical or suspected diagnosis of classical-like Ehlers-Danlos syndrome (clEDS) or hypermobility EDS (hEDS), especially when next-generation sequencing (NGS) has limitations in analyzing exons 32-44 of TNXB accurately due to paralogous sequence. It is also intended for individuals with suspected gene conversions or unequal crossing over events affecting exons 32-44 of TNXB, particularly when CAH-X syndrome is suspected. Family members of individuals with known pathogenic variants in exons 32-44 of TNXB, and reproductive partners of individuals with a known pathogenic variant in TNXB may also benefit from this testing.
Special Instructions
Sign in for standard institutional pricing. Prenatal and STAT testing options are available. Contact support for assistance with the test selection process or result interpretation. Detailed clinical notes and family medical history may enhance the quality of variant interpretation.
Limitations
This test specifically targets exons 32-44 of the TNXB gene using Sanger sequencing, which is particularly useful when NGS cannot accurately analyze these areas due to paralogous sequences. However, it will not detect variants outside these exons, and may miss certain complex rearrangements or low-frequency mosaicism events.
New York Approved
Methodology
Sanger
Biomarkers
Result Turnaround Time
12-20 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided