Invitae Androgen Insensitivity Panel
Use
The Invitae Androgen Insensitivity Panel analyzes AR and SRD5A2 genes associated with ambiguous or feminized external sexual development in individuals with a 46,XY chromosome complement. Pathogenic changes in the AR gene can confirm androgen insensitivity and guide treatment and gender-assignment decisions, also informing genetic counseling for relatives. It is not intended for testing Kennedy’s disease-related polyglutamine repeat expansions in the AR gene.
Special Instructions
Genetic testing can confirm diagnosis and help guide treatment and gender-assignment decisions. This test does not cover Kennedy's disease-related polyglutamine repeat expansions within the AR gene.
Limitations
The test analyzes full-gene sequencing and deletion/duplication using next-generation sequencing. It covers coding exons and some intronic sequences but not all non-coding regions. Variants like structural rearrangements and those embedded in complex sequences may not be detected. Sensitivity for large insertions/deletions and certain single-exon events might be reduced. Regions or types of variants covered or excluded are detailed on the website. Genomic DNA extracted samples are analyzed, and in rare cases, analyzed DNA may not match the constitutional genome due to conditions like transfusions or transplants.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)