GTR Test Accession:
Help
GTR000552838.1
Registered in GTR:
2017-02-08
View version history
GTR000552838.1,
registered in GTR:
2017-02-08
Last annual review date for the lab: 2021-11-30
Past due
LinkOut
At a Glance
Test purpose:
Help
Diagnosis;
Mutation Confirmation
Conditions (1):
Help
Vas deferens, congenital bilateral aplasia of, X-linked
Genes (1):
Help
ADGRG2 (Xp22.13)
Methods (1):
Help
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Target population: Help
Not provided
Clinical validity:
Help
Not provided
Clinical utility:
Help
Not provided
Ordering Information
Offered by:
Help
Test short name:
Help
ADGRG2
Specimen Source:
Help
- Buccal swab
- Fibroblasts
- Isolated DNA
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
- Registered Nurse
Test Order Code:
Help
ADGRG2 Sequencing
View other test codes
View other test codes
Contact Policy:
Help
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:
Help
Draw 2 lavender-top (EDTA anticoagulant) or yellow-top (ACD anticoagulant) tubes of blood (7-10 cc) from each adult. Label the tubes with the patient’s full name, date of birth, and date of collection. Maintain the sample at room temperature. Sample stability is approximately 5-7 days.
We will also accept …
We will also accept …
Order URL
Informed consent required:
Help
Decline to answer
Test strategy:
Help
ADGRG2 sequencing is recommended following negative CFTR gene analysis.
Pre-test genetic counseling required:
Help
Decline to answer
Post-test genetic counseling required:
Help
Decline to answer
Recommended fields not provided:
Lab contact for this test,
Test development
Conditions
Help
Total conditions: 1
Condition/Phenotype | Identifier |
---|
Test Targets
Genes
Help
Total genes: 1
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
---|
Methodology
Total methods: 1
Method Category
Help
Test method
Help
Instrument *
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose:
Help
Diagnosis;
Mutation Confirmation
Recommended fields not provided:
Clinical validity,
Clinical utility,
Target population,
What is the protocol for interpreting a variation as a VUS?,
Are family members with defined clinical status recruited to assess significance of VUS without charge?,
Will the lab re-contact the ordering physician if variant interpretation changes?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Availability:
Help
Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
Help
The certainty of these molecular test results exceeds 99%.
Assay limitations:
Help
Mosaicism may not be detected by this analysis. A negative result does not rule out the possibility that the individual has a mutation in the ADGRG2 gene that was not detected due to the presence of rare polymorphisms in primer binding sites.
Proficiency testing (PT):
Is proficiency testing performed for this test?
Help
Yes
Method used for proficiency testing: Help
Intra-Laboratory
Yes
Method used for proficiency testing: Help
Intra-Laboratory
Recommended fields not provided:
Test Confirmation,
Citations to support assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
PT Provider,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
Help
Not provided
Additional Information
Reviews:
Clinical resources:
Molecular resources:
Consumer 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.