Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000508012.6
CAP
Last updated in GTR:
2024-06-24
View version history
GTR000508012.6,
last updated:
2024-06-24
GTR000508012.5,
last updated:
2023-06-28
GTR000508012.4,
last updated:
2022-07-12
GTR000508012.3,
last updated:
2021-07-13
GTR000508012.2,
last updated:
2019-07-26
GTR000508012.1,
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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Familial dysautonomia
Genes (1):
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ELP1 (9q31.3)
Methods (1):
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Molecular Genetics - Targeted variant analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Familial Dysautonomia (FD, affecting the autonomic nervous system) has a …
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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FD mutation analysis
Specimen Source:
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- Amniocytes
- Amniotic fluid
- Cell culture
- Chorionic villi
- Cord blood
- Fetal 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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Familial Dysautonomia (FD, affecting the autonomic nervous system) has a carrier rate of 1 in 40 in Ashkenazi Jewish individuals, This assay detects 99.5% of FD mutations in that population.
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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Not applicable
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,
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:
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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:
Practice guidelines:
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.