Sheffield Diagnostic Genetics Service

Gilbert syndrome

Glanzmann thrombasthenia

Glioma

GLIOMA PANEL Single locus probes

Glucose Transporter 1 (GLUT1) deficiency syndrome (SLC2A1 sequencing and MLPA)

Glutaric Acidaemia Type 1(GA1)

Glycogen Storage Disease

Glycogen Storage Disease Type 0 (GYS2 – liver, GYS1 - muscle)

Glycogen Storage Disease Type 1 non-a (SLC37A4)

Glycogen Storage Disease Type 1a (von Gierke disease) (G6PC)

Glycogen Storage Disease Type II

Glycogen Storage Disease Type III (AGL)

Glycogen Storage Disease Type IV (Andersen disease) (GBE1)

Glycogen Storage Disease Type IX (autosomal) (PHKB, PHKG2)

Glycogen Storage Disease Type IX (X-linked) (PHKA2 – liver, PHKA1 - muscle)

Glycogen Storage Disease Type V (McArdle disease)

Glycogen Storage Disease Type VI (Hers Disease)(PYGL)

Glycogen Storage Disease Type VII (Tarui disease)(PFKM)

Glycogen Storage Disease Type X (PGAM2)

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