Androgen Insensitivity Syndrome Test

INTERPRETATIVE DATA:

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

Clinical Research Prenatal Carrier

Test Details
Disorder◦ Androgen Insensitivity Syndrome
Type◦ Molecular
Method◦ Sequencing, Capillary (Sanger)
GenesAR
LocusChromosomal Locus: Xq12
Ordering
Test URLhttp://www.saintfrancisgenetics.com
Preferred SpecimenPrefer two 5ml whole blood EDTA (lavender top) tube.
Alternate SpecimenPrenatal testing: Direct: 5ml direct unspun amniotic fluid or 15mg CVS tissue with a backup flask growing. Culture: confluent T25 flask.
ShippingSPECIMEN 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
Billing
CPT Code81405
Medicaid StatesOklahoma
 

Laboratory

Center for Genetics at Saint Francis, Genetics Laboratory
6161 S Yale Ave
Tulsa
OK 74136
USA

email: lhwhetsell@saintfrancis.com

Lab Details

 

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