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Androgen Insensitivity Syndrome (AIS)
Testicular Feminization Syndrome (TFM)
AR (Androgen Receptor)
Partial or complete androgen insensitivity has been reported. Patients with AIS may come to attention in utero because of inconsistency between pre-natal karyotype (male) and ultrasound findings of a female fetus, or at birth because of ambiguous genitalia. Alternatively, patients may present during the pubertal years because of a presumed inguinal hernia (abdominal or inguinal testes), absence of pubic/auxiliary hair, or lack of onset of menses. The mature phenotype is often "voluptuously" feminine, with very well-developed breasts and luxuriant scalp hair. In the partial form, patients may exhibit hypospadias and micropenis, fusion of the labial folds, with the occurrence of virilization at puberty. Heterozygous females may exhibit patchy changes in hair distribution and irregular menses, due to skewed Lyonization of the X-chromosome.
Using genomic DNA obtained from a venous blood sample in EDTA, each of the 8 exons of the AR gene is screened by bi-directional sequence analysis. The method used by GeneDx, Inc. to screen the AR gene identifies upwards of 95% of mutations associated with Androgen Insensitivity Syndrome. Clinically affected individuals with complete AIS are expected to have a mutation detection rate at approximately 83-95%, while the detection rate for individuals with milder phenotypes (i.e. partial androgen insensitivity and mild androgen insensitivity) is not precisely known, but is thought to be much lower. Prenatal diagnosis is available once the mutation in a family has been defined.
Buccal brush specimens are not accepted for this test. Please send 1-5 ml whole blood in a purple top, EDTA tube. For infants, 1-2 ml of blood is sufficient.
Information Sheet, including prices and CPT codes
Androgen Insensitivity Syndrome (AIS). Prenatal Testing Services.
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
Androgen Insensitivity, AIS, AR, androgen receptor, testicular feminization, TFM, Reifenstein, partial, complete, mild, ambiguous, genitalia, XY, female, male, feminine, Kennedy disease
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