U.S. flag

An official website of the United States government

GTR Home > Tests > 46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Panel


Test name


46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Panel (46,XX DSD/CGD Panel)

Purpose of the test


This is a clinical test intended for Help: Diagnosis, Monitoring, Mutation Confirmation, Pre-symptomatic, Risk Assessment, Screening



Loading data ......

Click Indication tab for more information.

How to order


•All samples should be shipped via overnight delivery at room temperature. •No weekend or holiday deliveries. •Label each specimen with the patient’s name, date of birth and date sample collected. •Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
Order URL Help: http://dnatesting.uchicago.edu/submitting-sample

Specimen source

Isolated DNA
Peripheral (whole) blood


Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

Loading data ......

Click Methodology tab for more information.

Clinical utility


Guidance for management

  • 1. Clinical Guidelines for the Management of Disorders of Sex Development in Childhood. In: Development CotMoDoS, ed. Consortium on the Management of Disorders of Sex Development. Rohnert Park, CA: Intersex Society of North America, 2006. 2. Arboleda VA, Sandberg DE, Vilain E. DSDs: genetics, underlying pathologies and psychosexual differentiation. Nat Rev Endocrinol 2014: 10: 603-615. 3. Arboleda V, Vilain E. Disorders of Sex Development. In: Strauss III J, Barbieri R, eds. Yen & Jaffe's Reproductive Endocrinology: Saunders, 2009: 1367-1393. 4. Ostrer H. 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis. In: Pagon R, Adam M, Ardinger H, eds. GeneReviews [Internet]. Seattle, WA: University of Washington, Seattle, 2008 [Updated 2009 Sep 15]. 5. Baetens D, Mladenov W, Delle Chiaie B et al. Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development. Orphanet J Rare Dis 2014: 9: 2

Clinical validity


Not provided

Test services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.