AR Sequence Analysis (Prenatal Diagnosis)

GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000511809.2
Last updated: 2023-07-21
Test version history
- 511809.2, last updated: 2023-07-21
- 511809.1, last updated: 2018-07-05

Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Androgen resistance syndrome
Offered by Baylor Genetics

Indication

This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation, Pre-symptomatic, Risk Assessment, Screening

Imported from GeneReviews

Androgen insensitivity syndrome (AIS) is typically characterized by evidence of feminization (i.e., undermasculinization) of the external genitalia at birth, abnormal secondary sexual development in puberty, and infertility in individuals with a 46,XY karyotype. AIS represents a spectrum of defects in androgen action and can be subdivided into three broad phenotypes: Complete androgen insensitivity syndrome (CAIS), with typical female external genitalia. Partial androgen insensitivity syndrome (PAIS) with predominantly female, predominantly male, or ambiguous external genitalia. Mild androgen insensitivity syndrome (MAIS) with typical male external genitalia.

Imported from Human Phenotype Ontology (HPO)

Gynecomastia
Inguinal hernia
Neoplasm
Primary amenorrhea
Growth abnormality
Female external genitalia in individual with 46,XY karyotype
Blind vagina
Absent facial hair
Labial hypoplasia
Sparse pubic hair
Sparse axillary hair
Elevated circulating follicle stimulating hormone level
Elevated circulating luteinizing hormone level

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X-linked recessive inheritance

Conditions tested

General population with clinical diagnosis of disease

Citations

Not provided

Reviews

Clinical resources

Practice guidelines

EuroGentest, 2008

Molecular resources

Consumer resources

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AR Sequence Analysis (Prenatal Diagnosis)

Indication

Clinical summary

Imported from GeneReviews

Clinical features

Imported from Human Phenotype Ontology (HPO)

Inheritance pattern