Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000508022.7
CAP
Last updated in GTR:
2024-06-27
View version history
GTR000508022.7,
last updated:
2024-06-27
GTR000508022.6,
last updated:
2023-06-29
GTR000508022.5,
last updated:
2022-07-12
GTR000508022.4,
last updated:
2021-07-13
GTR000508022.3,
last updated:
2020-07-15
GTR000508022.2,
last updated:
2019-07-26
GTR000508022.1,
registered in GTR:
2018-07-25
Last annual review date for the lab: 2024-06-28
LinkOut
At a Glance
Test purpose:
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Diagnosis;
Screening
Conditions (1):
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Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Genes (1):
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G6PC1 (17q21.31)
Methods (1):
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Molecular Genetics - Targeted variant analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
This test is used to identify individuals who are carriers …
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Test short name:
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GSD 1A
Specimen Source:
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- Amniocytes
- Amniotic fluid
- Cell culture
- Chorionic villi
- Cord blood
- Peripheral (whole) blood
- View specimen requirements
Who can order: Help
- Health Care Provider
- Licensed Physician
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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https://testdirectory.questdiagnostics.com/test/home
this test is also included the following carrier panels:
Ashkenazi Jewish carrier screening panel (11 tests) -test code 90891
QHerit expanded carrier screening panel-test code 94372
fetal samples: please call GeneInfo at 866.436.3463 to discuss case with a Quest genetic counselor
Order URL
this test is also included the following carrier panels:
Ashkenazi Jewish carrier screening panel (11 tests) -test code 90891
QHerit expanded carrier screening panel-test code 94372
fetal samples: please call GeneInfo at 866.436.3463 to discuss case with a Quest genetic counselor
Order URL
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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Based on applicable state law
Test strategy:
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https://testdirectory.questdiagnostics.com/test/home
Pre-test genetic counseling required:
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No
Post-test genetic counseling required:
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No
Recommended fields not provided:
Lab contact for this test
Conditions
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Total conditions: 1
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 1
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Targeted variant analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Screening
Target population:
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This test is used to identify individuals who are carriers of or affected by Glycogen Storage Disease Type 1a. It can also be used for prenatal diagnosis of Glycogen Storage Disease Type 1a for at risk couples.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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Not applicable
Not applicable
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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No. Not applicable
No. Not applicable
Will the lab re-contact the ordering physician if variant interpretation changes?
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Not provided.
Not provided.
Recommended fields not provided:
Clinical validity,
Clinical utility,
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:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Analytical sensitivity and specificity = 99%
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:
Software used to interpret novel variations
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Not applicable
Laboratory's policy on reporting novel variations Help
Not applicable
Not applicable
Laboratory's policy on reporting novel variations Help
Not applicable
Recommended fields not provided:
Test Confirmation,
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.