Molecular Test Listing

Molecular Requisition

ANDROGEN INSENSITIVITY SYNDROME
REIFENSTEIN SYNDROME
ANDROGEN RECEPTOR GENE

A Androgen Insensitivity Syndrome (AIS) is a metabolic disorder resulting from the reduced sensitivity of target tissues to androgen. As a result, males may display feminization of the external genitalia, abnormal sexual development and infertility. Other symptoms may include absence of vas deferens, gynecomastia, inguinal hernia, lack of menses and impaired spermogenesis. These conditions have been found to be a result of mutations in the gene encoding the Androgen Receptor (AR) gene located at Xq11-q12. Causative mutations have been found throughout the 8-exon gene. Currently, the entire gene is being sequenced for this test and greater than 95% of the mutations can be detected AIS is an X-linked recessive trait resulting in males that appear to be phenotypically female and women who are carriers that may exhibit mild symptoms such as irregular menses and changes in hair patterns.

• Absent or irregular menses.

• Gynecomastia at puberty.
• Infertility.
• Ambiguous genitalia.
• Carrier or prenatal testing in families with AIS history.

• Detection by sequencing the gene.

• EDTA (purple top) tubes - Newborn: minimum 1 mL Child/Adult: prefer 2 tubes of 3-5mL blood
  
  
• Prenatal testing: Please contact the laboratory for instructions.

TURNAROUND TIME:      4-6 Weeks

CPT CODES: