MVL Vision Panel
GTR Test Accession: Help GTR000604111.1
INHERITED DISEASENERVOUS SYSTEMMETABOLIC DISEASE ... View more
Last updated in GTR: 2023-02-14
Last annual review date for the lab: 2024-01-22 LinkOut
At a Glance
Diagnosis
Bardet-Biedl syndrome 18; 3-hydroxy-3-methylglutaryl-CoA synthase deficiency; 3-methylglutaconic aciduria type 1; ...
AARS2 (6p21.1), AASS (7q31.32), ABAT (16p13.2), ABCA4 (1p22.1), ABCB6 (2q35), ...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Patients with inherited eye disease or a family history of …
Not provided
Not provided
Ordering Information
Offered by: Help
Specimen Source: Help
  • 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
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
MVL Vision Panel
View other test codes
Lab contact: Help
John Chiang, Lab Director
nick@mvisionlab.com
503-227-3179
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
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 1358
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1028
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
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Patients with inherited eye disease or a family history of inherited eye disease
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
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 … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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.