Clinical DNA Testing

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Glycogen Storage Disease

Test Descriptions:

Type 0: GYS2    Exon Sequencing
Type Ia: G6PC     Exon Sequencing
Type Ib: SLC37A4     Exon Sequencing
Type II: GAA     Exon Sequencing
Type III: AGL     Exon Sequencing
Type IV: GBE1     Exon Sequencing
Type V: McArdle Disease PYGM     Exon Sequencing
Type VI: PYGL     Exon Sequencing
Type VII: PFKM     Exon Sequencing
Type IX: PHKA1, PHKA2, PHKG2     Exon Sequencing
Type XI: Fanconi-Bickel SyndromeSLC2A2    Exon Sequencing

Summary of Test Results - GYS2 (Type 0)

Summary of Test Results - AGL (Type III)

Link to Glycogen Storage Disease Support Group