GTR Home > Tests > Retinal dystrophy panel. 260 gene NGS panel.

Overview

Test order codeHelp: PU000688

Test name

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Retinal dystrophy panel. 260 gene NGS panel. (Retinal dystrophy panel. 260 gene NGS panel.)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation

Condition

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420 conditions tested. Click Indication tab for more information.

How to order

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In the case of prenatal samples or samples that require special urgency, it must be indicated as such so that the procedure and response times are modified, incorporating an emergency protocol. Types of samples: - Peripheral blood> 5 ml> A 5 ​​ml tube with EDTA. - Chorionic villi> 5-6 mg Approx. > Sterile container with saline solution and antibiotic. - Amniotic fluid> 18 ml> In two 10 ml tubes - Abortive remnants> Biopsy of 1 cm3 of the abortifacient remnant> Sterile container with saline solution - Genomic DNA> 1 ug> One sterile 1.5 ml tube with 10 mM TRIS solution - Saliva> 1-2 ml> Oragene DNA OG-500 Collecto. General conditions for the transport of samples. In general terms, samples destined for genetic studies should be kept at room temperature between 15 and 28ºC, both during collection and transport. However, the specific transport characteristics are detailed in the technical sheets for each of the tests that are included in the technical characteristics. Some of these features are Samples at room temperature: Samples must remain at a temperature between 15 and 28ºC during transport. Refrigerated samples: Place one or more thermal accumulators, depending on the size of the box. Thermal accumulators must remain in a freezer for 4 to 6 hours before use. Frozen samples: VERY IMPORTANT: Submit an aliquot for each of the requested tests that require freezing.
Order URL Help: https://genologica.com/

Specimen source

Amniotic fluid
Bone marrow
Buccal swab
Cell culture
Chorionic villi
Cord blood
Dried blood spot (DBS) card
Fetal blood
Fibroblasts
Fresh tissue
Frozen tissue
Isolated DNA
Peripheral (whole) blood
Saliva
Skin
Specimen requirements: https://genologica.com/

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

257 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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  • Custom Sequence Analysis
  • Genetic counseling

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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