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Comprehensive Eye panel
Clinical Genetic Test
Help
offered by
Clinical Biochemical Genetics Diagnostic Laboratory
GTR Test Accession: Help GTR000600661.2
Last updated in GTR: 2022-11-02
View version history
Last annual review date for the lab: 2024-10-10 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Congenital anomaly of eye
Genes (695): Help
AARS2 (6p21.1); AASS (7q31.32); ABAT (16p13.2); ABCA4 (1p22.1); ABCB6 (2q35) more...
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Clinical Biochemical Genetics Diagnostic Laboratory
View lab's website
Specimen Source: Help
  • Buccal swab
  • Peripheral (whole) blood
  • Plasma
  • Saliva
  • Serum
  • Urine
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
Test Order Code: Help
8021
Lab contact: Help
Guney Bademci, MD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Staff
g.bademci@med.miami.edu
+1 305-243-5450
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.
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
Order a test:
For specimen requirements and shipping conditions, please check the information page of the desired test(s) located at http://medgen.med.miami.edu/bgdl/test-menu. All specimen tubes should be labeled with the patient’s name and date of birth.

Please fill out the Biochem Lab Requisition Online Form completely (http://medgen.med.miami.edu/bgdl/test-order-form). An incomplete form …
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Order URL
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:
Test strategy, Test development
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 695
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)
Illumina HiSeq™2000 system
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, 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: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
sensitivity: 99.82% specificity: 99.99%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
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: Help
Not provided
Additional Information
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.