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New York State Institute for Basic Research in Developmental Disabilities, Biochemical Genetics

Disorder	Genes	Test Method	Lab Info	Product code
3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency - Analyte	New York State Institute for Basic Research in Developmental Disabilities, Biochemical Genetics	3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency	HMGCL,	Analyte		CODE: 22487	Add to Cart Add to Compare List
3-Methylcrotonyl-CoA Carboxylase Deficiency - Analyte	New York State Institute for Basic Research in Developmental Disabilities, Biochemical Genetics	3-Methylcrotonyl-CoA Carboxylase Deficiency	MCCC1, MCCC2,	Analyte		CODE: 22488	Add to Cart Add to Compare List
Acid Sphingomyelinase Deficiency - Enzyme assay	New York State Institute for Basic Research in Developmental Disabilities, Biochemical Genetics	Acid Sphingomyelinase Deficiency	SMPD1,	Enzyme assay		CODE: 22489	Add to Cart Add to Compare List
Alpha-Mannosidosis - Enzyme assay	New York State Institute for Basic Research in Developmental Disabilities, Biochemical Genetics	Alpha-Mannosidosis	MAN2B1,	Enzyme assay		CODE: 22490	Add to Cart Add to Compare List
Argininosuccinate Lyase Deficiency - Analyte	New York State Institute for Basic Research in Developmental Disabilities, Biochemical Genetics	Argininosuccinate Lyase Deficiency	ASL,	Analyte		CODE: 22491	Add to Cart Add to Compare List
Arylsulfatase A Deficiency - Enzyme assay	New York State Institute for Basic Research in Developmental Disabilities, Biochemical Genetics	Arylsulfatase A Deficiency	ARSA,	Enzyme assay		CODE: 22492	Add to Cart Add to Compare List
Citrullinemia Type I - Analyte	New York State Institute for Basic Research in Developmental Disabilities, Biochemical Genetics	Citrullinemia Type I	ASS1,	Analyte		CODE: 22493	Add to Cart Add to Compare List
Fabry Disease - Enzyme assay	New York State Institute for Basic Research in Developmental Disabilities, Biochemical Genetics			Enzyme assay		CODE: 22495	Add to Cart Add to Compare List
Fucosidosis - Enzyme assay	New York State Institute for Basic Research in Developmental Disabilities, Biochemical Genetics	Fucosidosis	FUCA1,	Enzyme assay		CODE: 22496	Add to Cart Add to Compare List
Galactosemia - Enzyme assay	New York State Institute for Basic Research in Developmental Disabilities, Biochemical Genetics	Galactosemia	GALT,	Enzyme assay		CODE: 22497	Add to Cart Add to Compare List
Gaucher Disease - Enzyme assay	New York State Institute for Basic Research in Developmental Disabilities, Biochemical Genetics	Gaucher Disease	GBA,	Enzyme assay		CODE: 22498	Add to Cart Add to Compare List
GLB1-Related Disorders - Enzyme assay	New York State Institute for Basic Research in Developmental Disabilities, Biochemical Genetics	GLB1-Related Disorders	GLB1,	Enzyme assay		CODE: 22499	Add to Cart Add to Compare List

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