GTR Home > Tests > Glycogen storage disease type IXb

Overview

Test order codeHelp: 409

Test name

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Glycogen storage disease type IXb

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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1 condition tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
DDeletion/duplication analysis
PCR with allele specific hybridization
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis

Summary of what is tested

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

Genes

Clinical validity

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More than dozen mutation have been reported and majority of them were missense/nonsense, that can be identified with 99,9% specificity using standard sequencing at Centogene. The following are some ethnic-specific common mutations that account for approximately 90% of known disease alleles. These mutations can be used for up to 100% of genetic testing depending on the specific ethnic group: p.Arg83Cys (European origin 32%, Jewish 93%-100%), p.Arg83His (Chinese 38%), c.378_379dupTA (Hispanic 50%) , c.648G>T (Japanese 88%, Chinese 36%), c.79delC, p.Gly188Arg, and p.Gln347* (European origin 21%).

Citations

Not provided

Clinical utility

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Not provided

How to order

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Order URL Help: https://www.centogene.com/ordering/how-to-order-a-test.html

Test services

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

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