Androgen Insensitivity Syndrome (AIS) via the Androgen Receptor (AR) Gene
Use
This test is intended for individuals with features suggestive of Androgen Insensitivity Syndrome (AIS). Typically, it is used for 46,XY individuals who present with female or ambiguous external genitalia, male infertility, or undervirilization. The test aids in diagnosing AIS by assessing variations in the Androgen Receptor (AR) gene.
Special Instructions
Testing can be ordered through standard institutional channels, with additional options available for exome-wide CNV analysis and STAT processing. Detailed information and support are available through PreventionGenetics, which complies with CAP and CLIA regulations.
Limitations
The test focuses specifically on the AR gene related to Androgen Insensitivity Syndrome and may not detect all possible genetic contributors to the condition. Exome or genome platforms are used with CNV analysis, but there may be undetected variants beyond the AR gene's scope not detectable by this method.
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