Clinical Genetic Test
offered by
GTR Test Accession:
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GTR000508014.7
Last updated in GTR:
2024-06-24
View version history
GTR000508014.7,
last updated:
2024-06-24
GTR000508014.6,
last updated:
2023-06-28
GTR000508014.5,
last updated:
2022-07-12
GTR000508014.4,
last updated:
2021-07-13
GTR000508014.3,
last updated:
2020-07-15
GTR000508014.2,
last updated:
2019-07-26
GTR000508014.1,
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 Mediterranean fever
Genes (1):
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MEFV (16p13.3)
Methods (2):
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Molecular Genetics - Targeted variant analysis: PCR; SNP Detection
Target population: Help
Patients displaying clinical features of FMF. Identify carriers of FMF …
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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FMF
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
for fetal samples: parental carrier reports required; please call GeneInfo at 866.436.3463 to discuss case details with a Quest Genetic Counselor
Order URL
for fetal samples: parental carrier reports required; please call GeneInfo at 866.436.3463 to discuss case details 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 |
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Test Targets
Genes
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Total genes: 1
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 2
Method Category
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Test method
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Instrument *
Targeted variant analysis
PCR
Targeted variant analysis
SNP Detection
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Screening
Target population:
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Patients displaying clinical features of FMF.
Identify carriers of FMF in high-risk ethnic groups or those with a family history of FMF.
Prenatal diagnosis of FMF in at-risk pregnancies
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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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
Alternative Assessment
Yes
Method used for proficiency testing: Help
Alternative Assessment
VUS:
Laboratory's policy on reporting novel variations
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Not applicable
Not applicable
Recommended fields not provided:
Test Confirmation,
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:
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Category:
FDA exercises enforcement discretion
Additional Information
Clinical resources:
Molecular resources:
Practice guidelines:
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.