Androgen Insensitivity Syndrome

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ANDROGEN INSENSITIVITY SYNDROME

Gene Symbol: AR

Chromosomal Locus: Xq12
 
Protein: Androgen Receptor
 
Pseudonyms: Testicular Feminization Syndrome (TFM), Reifenstein Syndrome, AIS, DHTR
 
TURNAROUND TIME: 4 weeks

TESTING METHODOLOGY: Polymerase chain reaction (PCR) and DNA Sequencing of all 8 exons, and their intron- exon borders.
 
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 required for maternal cell contamination studies.

A Molecular Genetics Laboratory Test Requisition must accompany the specimen. Contact the Molecular Laboratory at 918-502-1721 to obtain further information.

Note: Counseling and informed consent are recommended for genetic testing. A consent form is available as a resource but not required.
 
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.
 
INDICATIONS FOR USE:
  • Ambiguous genitalia
  • Ultrasound findings that are different than karyotype results.
ADDITIONAL RESOURCES:
 
OMIM: Androgen Insensitivity Syndrome: www.omim.org/entry/300068