Androgen Insensitivity Syndrome Test
Incidence: 2 to 5 per in 100,000.
Inheritance: X-linked Recessive
Disease Characteristics: Androgen Insensitivity Syndrome is generally characterized by feminization of the genitalia at birth, abnormal secondary sexual development in puberty, and infertility in individuals with a 46,XY karyotype.
Molecular Genetic Mechanism: A variety of mutations have been described throughout the gene.
Clinical Sensitivity: This test will detect mutations in 65-95% of patients with Complete AIS (CAIS) and 40-45% of patients with Partial AIS (PAIS).
Analytical Sensitivity: 99%
Test Limitations: Mutations that are not located within the tested regions will not be detected. Deletions of the entire gene, deletions of entire exons and rare duplications will not be detected. Rare diagnostic errors can occur due to primer or probe site mutations or rare polymorphisms
|Disorder||◦ Androgen Insensitivity Syndrome|
|Method||◦ Sequencing, Capillary (Sanger)|
|Locus||Chromosomal Locus: Xq12|
|Preferred Specimen||Prefer two 5ml whole blood EDTA (lavender top) tube.|
|Alternate Specimen||Prenatal testing: Direct: 5ml direct unspun amniotic fluid or 15mg CVS tissue with a backup flask growing. Culture: confluent T25 flask.|
|Shipping||SPECIMEN REQUIREMENTS: Collect: Prefer two 5ml whole blood EDTA (lavender top) tube. Min. Collection: 0.7 ml whole blood EDTA. Transport: blood EDTA at Room Temp shipped regular next day air (No Saturday delivery; store specimen at 4 C and ship Monday). Stability: Ambient: up to 7 days; Refrigerated: 2 weeks. Frozen: unacceptable Unacceptable Conditions: Serum. Frozen or severely hemolyzed blood. Clotted blood. Prenatal testing: Direct: 5ml direct unspun amniotic fluid or 15mg CVS tissue with a backup flask growing. Culture: confluent T25 flask. Maternal blood sample is requ|
Center for Genetics at Saint Francis, Genetics Laboratory
6161 S Yale Ave