GTR Test Accession:
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GTR000528493.7
CAP
Last updated in GTR:
2021-01-19
View version history
GTR000528493.7,
last updated:
2021-01-19
GTR000528493.6,
last updated:
2020-08-17
GTR000528493.5,
last updated:
2019-08-13
GTR000528493.4,
last updated:
2019-07-25
GTR000528493.3,
last updated:
2019-07-22
GTR000528493.2,
last updated:
2018-08-20
GTR000528493.1,
registered in GTR:
2015-11-13
Last annual review date for the lab: 2024-07-22
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Monitoring;
Mutation Confirmation; ...
Conditions (9):
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Genes (11):
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Methods (2):
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Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
Not provided
Clinical validity:
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Not provided
Clinical utility:
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Guidance for management
Ordering Information
Offered by:
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Test short name:
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46,XX DSD/CGD Panel
Specimen Source:
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- Isolated DNA
- Peripheral (whole) blood
- Saliva
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
- Registered Nurse
CPT codes:
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Lab contact:
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Contact Policy:
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Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order:
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•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
•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
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Confirmation of research findings
Test additional service:
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Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Custom mutation-specific/Carrier testing
Test development:
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Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required:
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No
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Test Order Code,
Test strategy
Conditions
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Total conditions: 9
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 11
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 2
Method Category
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Test method
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Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Monitoring;
Mutation Confirmation;
Pre-symptomatic;
Risk Assessment;
Screening
Clinical utility:
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Guidance for management
View citations (1)
- Formate assay in body fluids: application in methanol poisoning. Makar AB, et al. Biochem Med. 1975;13(2):117-26. doi:10.1016/0006-2944(75)90147-7. PMID: 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.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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Variants are identified and evaluated using a custom collection of bioinformatic tools and comprehensively interpreted by our team of directors and genetic counselors.
Variants are identified and evaluated using a custom collection of bioinformatic tools and comprehensively interpreted by our team of directors and genetic counselors.
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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Decline to answer.
Decline to answer.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes.
Yes.
Recommended fields not provided:
Clinical validity,
Target population,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Confirmation:
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Positive test results are confirmed using Sanger sequencing.
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Analytical Sensitivity 99-100% Accuracy 100% Precision 100%
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
VUS:
Laboratory's policy on reporting novel variations
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All novel and/or potentially pathogenic variants are confirmed by Sanger sequencing
All novel and/or potentially pathogenic variants are confirmed by Sanger sequencing
Recommended fields not provided:
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
FDA exercises enforcement discretion
Additional Information
Clinical resources:
Molecular resources:
IMPORTANT NOTE:
NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading.
NIH makes no endorsements of tests or laboratories listed in 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.