GTR Test Accession:
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GTR000604111.1
Registered in GTR:
2023-02-14
View version history
GTR000604111.1,
registered in GTR:
2023-02-14
Last annual review date for the lab: 2024-01-22
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At a Glance
Test purpose:
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Diagnosis
Conditions (1358):
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Bardet-Biedl syndrome 18;
3-hydroxy-3-methylglutaryl-CoA synthase deficiency;
3-methylglutaconic aciduria type 1
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Genes (1028):
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Methods (1):
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Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Patients with inherited eye disease or a family history of …
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Specimen Source:
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- Buccal swab
- Cell culture
- Cord blood
- Cystic hygroma fluid
- Dried blood spot (DBS) card
- Fetal blood
- Fresh tissue
- Frozen tissue
- Isolated DNA
- Nasal aspirates
- Nasopharyngeal washes
- Oropharyngeal swab
- Peripheral (whole) blood
- Saliva
- White blood cell prep
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Physician
Test Order Code:
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MVL Vision Panel
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View other test codes
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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Informed consent required:
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Decline to answer
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 strategy,
Test development
Conditions
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Total conditions: 1358
| Condition/Phenotype | Identifier |
|---|
Test Targets
Genes
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Total genes: 1028
| 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 *
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
Target population:
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Patients with inherited eye disease or a family history of inherited eye disease
Recommended fields not provided:
Clinical validity,
Clinical utility,
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:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Our MVL Vision Panel (v18) consists of 1024 genes with an average coverage of 500 reads and at least 30X coverage in >96% of the panel. Targeted regions cover all exons, exon-intron boundaries, and relevant, deep-intronic regions. Identified mutations and novel variations are confirmed by Sanger sequencing. The sensitivity of …
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Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
No
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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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.