GTR Home > Tests > Glycogen storage disease type IXb


Test order codeHelp: 409

Test name


Glycogen storage disease type IXb

Purpose of the test


This is a clinical test intended for Help: Diagnosis



1 condition tested. Click Indication tab for more information.


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.


Clinical validity


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%).


Not provided

Clinical utility


Not provided

How to order


Order URL Help:

Test services

  • 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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