'Bull's Eye' Macular Dystrophy (BEM), Cone-rod dystrophy 12 (CORD12), Retinitis Pigmentosa 41 (RP41) and Stargardt Disease 4 (STGD4) via the PROM1 Gene
- GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000507612.10
- Last updated: 2018-07-03
- Test version history
- 507612.14, last updated: 2020-09-11
- 507612.13, last updated: 2020-09-09
- 507612.12, last updated: 2019-04-05
- 507612.11, last updated: 2018-12-04
- 507612.10, last updated: 2018-07-03
- 507612.9, last updated: 2017-12-04
- 507612.8, last updated: 2016-03-30
- 507612.7, last updated: 2016-03-08
- 507612.6, last updated: 2016-01-28
- 507612.5, last updated: 2015-09-18
- 507612.4, last updated: 2015-08-14
- 507612.3, last updated: 2015-02-27
- 507612.2, last updated: 2014-06-06
- 507612.1, last updated: 2013-09-16
Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Retinitis pigmentosa 41
Offered by PreventionGenetics
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.'Bull's Eye' Macular Dystrophy (BEM), Cone-rod dystrophy 12 (CORD12), Retinitis Pigmentosa 41 (RP41) and Stargardt Disease 4 (STGD4) via the PROM1 Gene
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation, Pre-symptomatic, Risk Assessment, Screening
Click Indication tab for more information.
Please visit Lab website for details. Additional specimen types may be acceptable based on method. Please contact us about prenatal cases.
Order URL HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: https://www.preventiongenetics.com/forms.php
Specimen source
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- Molecular Genetics
- DDeletion/duplication analysis
- Comparative Genomic Hybridization
- 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
Not provided
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Not provided
Test services
HelpLaboratory's order or catalog code for the test (used in the order requisition form).- Clinical Testing/Confirmation of Mutations Identified Previously, Order code: 3191
- Custom Deletion/Duplication Testing, Order code: 600
- 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.