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Amylotrophic Lateral Sclerosis and Dementia Next Generation Sequencing Panel*
Apolipoprotein E (APOE)
Array CGH (see CGH / microarray)
BRCA1 & BRCA2 Blood
Breast & Ovarian Next Generation
Fragile X syndrome
Friedreich Ataxia
Fructose-1,6-bisphosphatase deficiency
Fumarate Hydratase Deficiency
Gilbert syndrome
Glanzmann thrombasthenia
Glioma
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 II
Glycogen Storage Disease Type III (AGL)
Glycogen Storage Disease Type IV (Andersen disease) (GBE1)
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