GTR Home > Tests > Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Panel

Overview

Test order codeHelp: 4379

Test name

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Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Panel

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Pre-symptomatic, Risk Assessment, Screening

Condition

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338 conditions tested. Click Indication tab for more information.

How to order

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Please visit Lab website for details. Additional specimen types may be acceptable based on method. Please contact us about prenatal cases.
Order URL Help: https://www.preventiongenetics.com/forms.php

Specimen source

Cell culture
Fetal blood
Fibroblasts
Fresh tissue
Isolated DNA
Peripheral (whole) blood
White blood cell prep

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Other
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Other
TTargeted variant analysis
Bi-directional Sanger Sequence Analysis
  • Applied Biosystems 3730 capillary sequencing instrument

Summary of what is tested

321 genes and variants. Click Methodology tab for more information.

Genes

Clinical utility

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Not provided

Clinical validity

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Not provided

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously, Order code: 4379
  • Custom Deletion/Duplication Testing, Order code: 4379
  • Custom Sequence Analysis, Order code: 100, 200, 300
  • Maternal cell contamination study (MCC), Order code: 800
  • Custom Prenatal Testing, Order code: 990

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the 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.

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