GTR Home > Tests > Autosomal Recessive Retinitis Pigmentosa

Overview

Test name

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Autosomal Recessive Retinitis Pigmentosa (ARRP)

Purpose of the test

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

Condition

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58 conditions tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
  • Applied Biosystems 3730 capillary sequencing instrument
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • MiSeq Personal Sequencer
TTargeted variant analysis
Microarray
  • APEX microarray

Summary of what tested

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

Genes and variants

Clinical validity

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APEX based test enables to detect up to 30-40% of mutations associated with autosomal recessive retinitis pigmentosa.

Citations

Not provided

Clinical utility

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Not provided

How to order

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Order URL Help: http://www.asperbio.com/genetic-testing-process/ordering-genetic-tests

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Sequence Analysis
  • Result interpretation
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

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