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Karolinska University Hospital, Centre for Inherited Metabolic Diseases

Disorder	Genes	Test Method	Lab Info	Product code
3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency - Analyte	Karolinska University Hospital, Centre for Inherited Metabolic Diseases	3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency	HADH,	Analyte		CODE: 18198	Add to Cart Add to Compare List
3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency - Sequence analysis of the entire coding region	Karolinska University Hospital, Centre for Inherited Metabolic Diseases	3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency	HADH,	Sequence analysis of the entire coding region		CODE: 18197	Add to Cart Add to Compare List
Acid Sphingomyelinase Deficiency - Enzyme assay	Karolinska University Hospital, Centre for Inherited Metabolic Diseases	Acid Sphingomyelinase Deficiency	SMPD1,	Enzyme assay		CODE: 18199	Add to Cart Add to Compare List
Acute Intermittent Porphyria - Analyte	Karolinska University Hospital, Centre for Inherited Metabolic Diseases	Acute Intermittent Porphyria	HMBS,	Analyte		CODE: 18201	Add to Cart Add to Compare List
Acute Intermittent Porphyria - Enzyme assay	Karolinska University Hospital, Centre for Inherited Metabolic Diseases	Acute Intermittent Porphyria	HMBS,	Enzyme assay		CODE: 18202	Add to Cart Add to Compare List
Acute Intermittent Porphyria - Sequence analysis of the entire coding region	Karolinska University Hospital, Centre for Inherited Metabolic Diseases	Acute Intermittent Porphyria	HMBS,	Sequence analysis of the entire coding region		CODE: 18200	Add to Cart Add to Compare List
Alpha-Mannosidosis - Analyte	Karolinska University Hospital, Centre for Inherited Metabolic Diseases	Alpha-Mannosidosis	MAN2B1,	Analyte		CODE: 18203	Add to Cart Add to Compare List
Alpha-Mannosidosis - Enzyme assay	Karolinska University Hospital, Centre for Inherited Metabolic Diseases	Alpha-Mannosidosis	MAN2B1,	Enzyme assay		CODE: 18204	Add to Cart Add to Compare List
Arylsulfatase A Deficiency - Analyte	Karolinska University Hospital, Centre for Inherited Metabolic Diseases	Arylsulfatase A Deficiency	ARSA,	Analyte		CODE: 18205	Add to Cart Add to Compare List
Arylsulfatase A Deficiency - Enzyme assay	Karolinska University Hospital, Centre for Inherited Metabolic Diseases	Arylsulfatase A Deficiency	ARSA,	Enzyme assay		CODE: 18206	Add to Cart Add to Compare List
Aspartylglycosaminuria - Analyte	Karolinska University Hospital, Centre for Inherited Metabolic Diseases	Aspartylglycosaminuria	AGA,	Analyte		CODE: 18207	Add to Cart Add to Compare List
Aspartylglycosaminuria - Enzyme assay	Karolinska University Hospital, Centre for Inherited Metabolic Diseases	Aspartylglycosaminuria	AGA,	Enzyme assay		CODE: 18208	Add to Cart Add to Compare List

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