Glycogen storage disease type I diagnostic study of choice: Difference between revisions
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===Molecular genetic testing=== | ===Molecular genetic testing=== | ||
*Molecular genetic testing shows: | *Molecular genetic testing shows:<ref>Bali DS, Chen YT, Austin S, et al. Glycogen Storage Disease Type I. 2006 Apr 19 [Updated 2016 Aug 25]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1312/ | ||
</ref> | |||
**Biallelic pathogenic variants in G6PC for patients with GSD type 1a | **Biallelic pathogenic variants in G6PC for patients with GSD type 1a | ||
**Biallelic pathogenic variants in SLC37A4 for patients with GSD type 1b | **Biallelic pathogenic variants in SLC37A4 for patients with GSD type 1b | ||
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| style="background:#DCDCDC;" align="center" + |Genome sequencing | | style="background:#DCDCDC;" align="center" + |Genome sequencing | ||
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===Enzyme Activity Assay=== | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
Revision as of 17:21, 20 November 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief:
Overview
Diagnostic Study of Choice
GSD type 1 is diagnosed by identification of proband by either of the following:[1]
- Molecular genetic testing
- Enzyme Activity Assay
Molecular genetic testing
- Molecular genetic testing shows:[2]
- Biallelic pathogenic variants in G6PC for patients with GSD type 1a
- Biallelic pathogenic variants in SLC37A4 for patients with GSD type 1b
| Molecular genetic testing | ||
|---|---|---|
| Genetic testing | Analysis performed | |
| Serial single-gene testing |
| |
| Targeted analysis |
| |
| Multigene panel |
| |
| Comprehensive genomic testing | Exome sequencing |
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| Genome sequencing | ||
Enzyme Activity Assay
References
- ↑ Bali DS, Chen YT, Austin S, et al. Glycogen Storage Disease Type I. 2006 Apr 19 [Updated 2016 Aug 25]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1312/
- ↑ Bali DS, Chen YT, Austin S, et al. Glycogen Storage Disease Type I. 2006 Apr 19 [Updated 2016 Aug 25]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1312/
- ↑ Ekstein J, Rubin BY, Anderson SL, Weinstein DA, Bach G, Abeliovich D; et al. (2004). "Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population". Am J Med Genet A. 129A (2): 162–4. doi:10.1002/ajmg.a.30232. PMID 15316959.