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Androgen Insensitivity Syndrome (AIS) via the Androgen Receptor (AR) Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
AR 81173 81173,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7577AR81173 81173,81479 $990 Order Options and Pricing

Pricing Comments

Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.


Genetic Counselors


  • Fang Xu, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Male sexual differentiation 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.


Pathogenic variants in the Androgen Receptor (AR) gene are the most common cause of Androgen Insensitivity Syndrome (AIS). To date, over 1,000 pathogenic variants have been described throughout the AR gene (Gottlieb et al. 2012). Nonsense and frameshift pathogenic variants cause complete AIS (CAIS), while weaker pathogenic variants, such as missense and regulatory (i.e. those in the promoter, introns, and 3’ untranslated region) variants, cause more variable symptoms and partial AIS (PAIS). Importantly, all documented AR pathogenic variants, and their respective phenotype, can be found in the Androgen Receptor Gene Mutations Database (ARDB, http://androgendb.mcgill.ca/), making it possible for physicians and genetic counselors to offer a statistically relevant phenotype prognosis for most identified pathogenic variants. The AR gene is located on the X chromosome, so in most cases (~60%) the pattern of inheritance is X-linked recessive. However, an apparently high mutation rate within the AR gene also results in relatively frequent occurrence (~40%) of de novo pathogenic variants and somatic mosaicism (Audi et al. 2010). Identifying patients with de novo pathogenic variants and somatic mosaicism has important consequences for sex assignment and genetic counseling (Kohler et al.2005). Pathogenic variants in AR have been detected in 46,XY females. 46,XX carrier females are often unaffected.

Clinical Sensitivity - Sequencing with CNV PG-Select

This test is predicted to identify a pathogenic variant in 65% of all patients with Androgen Insensitivity Syndrome (Boehmer et al. 2001).

Although the clinical sensitivity of deletion/duplication testing is expected to be relatively low, at least eighteen gross deletions/duplications have been reported in the AR gene (Human Gene Mutation Database).

Testing Strategy

This test provides full coverage of all coding exons of the AR gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Candidates for this test are patients with a presumptive diagnosis of AIS (Boehmer et al. 2001).

This test is not designed to quantify the number of CAG or CCG trinucleotide repeats in exon 1, and is not appropriate for diagnosis of patients with Spinal and Bulbar Muscular Atrophy (SBMA).


Official Gene Symbol OMIM ID
AR 313700
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Androgen Resistance Syndrome XL 300068

Related Test

X-linked Spinal and Bulbar Muscular Atrophy (Kennedy Disease) via the AR Gene CAG Repeat Expansion


  • Audi L. et al. 2010. The Journal of Clinical Endocrinology and Metabolism. 95: 1876-88. PubMed ID: 20150575
  • Boehmer A.L. et al. 2001. The Journal of Clinical Endocrinology and Metabolism. 86: 4151-60. PubMed ID: 11549642
  • Brinkmann A.O. 2001. Molecular and Cellular Endocrinology. 179: 105-9. PubMed ID: 11420135
  • Dacou-Voutetakis C. 2007. Nature Clinical Practice. Endocrinology & Metabolism. 3: 668-9. PubMed ID: 17724484
  • Galani A. et al. 2008. Hormones (athens, Greece). 7: 217-29. PubMed ID: 18694860
  • Gottlieb B. et al. 2012. Human Mutation. 33: 887-94. PubMed ID: 22334387
  • Human Gene Mutation Database (Bio-base).
  • Köhler B. et al. 2005. The Journal of Clinical Endocrinology and Metabolism. 90: 106-11. PubMed ID: 15522944
  • Wilson C.A, Davies D.C. 2007. Reproduction. 133: 331-59. PubMed ID: 17307903


Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

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View Ordering Instructions

1) Select Test Method (Platform)

1) Select Test Type

2) Select Additional Test Options

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
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