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Buffalo General Medical Center, Robert Guthrie Biochemical and Molecular Genetics Laboratory

Disorder	Genes	Test Method	Lab Info	Product code
Carnitine Palmitoyltransferase II Deficiency - Enzyme assay	Buffalo General Medical Center, Robert Guthrie Biochemical and Molecular Genetics Laboratory	Carnitine Palmitoyltransferase II Deficiency	CPT2,	Enzyme assay		CODE: 4419	Add to Cart Add to Compare List
Carnitine Palmitoyltransferase II Deficiency - Sequence analysis of the entire coding region	Buffalo General Medical Center, Robert Guthrie Biochemical and Molecular Genetics Laboratory	Carnitine Palmitoyltransferase II Deficiency	CPT2,	Sequence analysis of the entire coding region		CODE: 4417	Add to Cart Add to Compare List
Carnitine Palmitoyltransferase II Deficiency - Targeted mutation analysis	Buffalo General Medical Center, Robert Guthrie Biochemical and Molecular Genetics Laboratory	Carnitine Palmitoyltransferase II Deficiency	CPT2,	Targeted mutation analysis		CODE: 4418	Add to Cart Add to Compare List
Caveolinopathies - Sequence analysis of the entire coding region	Buffalo General Medical Center, Robert Guthrie Biochemical and Molecular Genetics Laboratory	Caveolinopathies	CAV3,	Sequence analysis of the entire coding region		CODE: 4420	Add to Cart Add to Compare List
Coenzyme Q10 Deficiency - Analyte	Buffalo General Medical Center, Robert Guthrie Biochemical and Molecular Genetics Laboratory	Coenzyme Q10 Deficiency	COQ2, COQ9, PDSS1, PDSS2,	Analyte		CODE: 4421	Add to Cart Add to Compare List
Fabry Disease - Enzyme assay	Buffalo General Medical Center, Robert Guthrie Biochemical and Molecular Genetics Laboratory	Fabry Disease	GLA,	Enzyme assay		CODE: 4422	Add to Cart Add to Compare List
Fumarate Hydratase Deficiency - Enzyme assay	Buffalo General Medical Center, Robert Guthrie Biochemical and Molecular Genetics Laboratory	Fumarate Hydratase Deficiency	FH,	Enzyme assay		CODE: 4423	Add to Cart Add to Compare List
Gaucher Disease - Enzyme assay	Buffalo General Medical Center, Robert Guthrie Biochemical and Molecular Genetics Laboratory	Gaucher Disease	GBA,	Enzyme assay		CODE: 4424	Add to Cart Add to Compare List
GLB1-Related Disorders - Enzyme assay	Buffalo General Medical Center, Robert Guthrie Biochemical and Molecular Genetics Laboratory	GLB1-Related Disorders	GLB1,	Enzyme assay		CODE: 4425	Add to Cart Add to Compare List
Glycogen Storage Disease Type II (Pompe Disease) - Enzyme assay	Buffalo General Medical Center, Robert Guthrie Biochemical and Molecular Genetics Laboratory	Glycogen Storage Disease Type II (Pompe Disease)	GAA,	Enzyme assay		CODE: 4426	Add to Cart Add to Compare List
Glycogen Storage Disease Type V - Enzyme assay	Buffalo General Medical Center, Robert Guthrie Biochemical and Molecular Genetics Laboratory	Glycogen Storage Disease Type V	PYGM,	Enzyme assay		CODE: 4429	Add to Cart Add to Compare List
Glycogen Storage Disease Type V - Sequence analysis of the entire coding region	Buffalo General Medical Center, Robert Guthrie Biochemical and Molecular Genetics Laboratory	Glycogen Storage Disease Type V	PYGM,	Sequence analysis of the entire coding region		CODE: 4427	Add to Cart Add to Compare List

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