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Test Code AR Seq Androgen Insensitivity Sequencing

Clinical System Name

Androgen Insensitivity Sequencing

Synonyms

AR Gene

 

Description

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.

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender Top/EDTA, Yellow/ACD

Preferred Vol: 3-5 mL

Minimum Vol: 1 mL for small babies

 

Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol:  5 µg -10 µg of purified DNA at a concentration of at least 20 µg/ml

Minimum Vol:

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: 2-8 C

Storage location: Refrigerate in CPA refrigerator Sendouts rack. Samples drawn on a Friday can be refrigerated until Monday shipment. Store remaining labels in the clear plastic box on the CPA fridge.

 

Off-site collection: Send whole blood refrigerated.

Stability

Specimen Type Temperature Time
Whole blood Room temp 2 d
Whole blood Refrigerated 7 d
Whole blood Frozen N
Extracted DNA Room temp 3-4 d
Extracted DNA Refrigerated 1 y
Extracted DNA Frozen Indefinitely

 

Availability

STAT TAT
N 18 d

 

Performing Laboratory

PreventionGenetics

Department

Department:     PreventionGenetics, 3800 S. Business Park Ave., Marshfield, Wisconsin 54449

Phone Number:    (715) 387-0484

Reference Range

Interpretive report is provided.

Methodology

Method: This test involves bidirectional DNA sequencing of all 8 coding exons of the AR gene, plus ~20 bp of flanking non-coding DNA on either side of each exon. We will also sequence any single exon (Test #100) or pair of exons (Test #200) in family members of patients with known mutations or to confirm research results.

Special Instructions

Links to:

 

PreventionGenetics

 

Clinical Utility

GeneReviews: Androgen Insensitivity Syndrome

 

Male sexual differentation requires the Androgen Receptor (AR) and its ligands—Testosterone and Dihydroxytestosterone (DHT) (Wilson and Davies 2007). Testosterone, which is secreted by the developing testes beginning at 9 weeks of gestation, stimulates Wolffian duct differentiation into epididemis, vas deferens and seminal vesicles. DHT, derived from testosterone via the enzymatic activity of 5α-reductase type 2, stimulates prostate development and masculinization of the primordial external genital into penis and scrotum (Brinkmann et al. 2001). Both androgens exert their effect through binding and activation of the AR. In individuals with a 46,XY karyotype, defects in AR signaling result in Androgen Insensitivity Syndrome (AIS). AIS symptoms range from complete insensitivity (CAIS), whereby patients have female external genitalia, a short, blind ending vagina and no Wolffian duct derived structures, to partial insensitivity (PAIS), whereby patients can have a predominately female appearance with mild cliteromegaly, ambiguous genitalia, or an undervirilized male appearance (Galani et al. 2008). Given the complex nature of genital anomalies, recommendations for treatment and management of AIS should rely on an elaborate and individualized approach (Dacou-Voutetakis 2007). Genetic testing for the molecular cause of AIS is recognized as an invaluable aspect of this approach.

Send Out Instructions

Reference Test Name: Androgen Insensitivity Syndrome (AIS) via the Androgen Receptor (AR) gene
Reference Test Number: 736
Instructions: Ship whole blood overnight, ambient temperature. PreventionGenetics accepts Saturday delivery.