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General University Hospital in Prague, Institute of Inherited Metabolic Disorders

Disorder	Genes	Test Method	Lab Info	Product code
Acid Sphingomyelinase Deficiency - Sequence analysis of the entire coding region	General University Hospital in Prague, Institute of Inherited Metabolic Disorders	Acid Sphingomyelinase Deficiency	SMPD1,			CODE: 14441	Add to Cart Add to Compare List
Adenylosuccinase Deficiency - Sequence analysis of the entire coding region	General University Hospital in Prague, Institute of Inherited Metabolic Disorders	Adenylosuccinase Deficiency	ADSL,			CODE: 14442	Add to Cart Add to Compare List
Adrenoleukodystrophy, X-Linked - Sequence analysis of the entire coding region	General University Hospital in Prague, Institute of Inherited Metabolic Disorders	Adrenoleukodystrophy, X-Linked	ABCD1,			CODE: 14443	Add to Cart Add to Compare List
Alexander Disease - Sequence analysis of the entire coding region	General University Hospital in Prague, Institute of Inherited Metabolic Disorders	Alexander Disease	GFAP,			CODE: 14444	Add to Cart Add to Compare List
Arylsulfatase A Deficiency - Sequence analysis of the entire coding region	General University Hospital in Prague, Institute of Inherited Metabolic Disorders	Arylsulfatase A Deficiency	ARSA,			CODE: 14445	Add to Cart Add to Compare List
Biotinidase Deficiency - Sequence analysis of the entire coding region	General University Hospital in Prague, Institute of Inherited Metabolic Disorders	Biotinidase Deficiency	BTD,			CODE: 14446	Add to Cart Add to Compare List
CADASIL - Sequence analysis of select exons	General University Hospital in Prague, Institute of Inherited Metabolic Disorders	CADASIL	NOTCH3,	Sequence analysis of select exons		CODE: 14447	Add to Cart Add to Compare List
Canavan Disease - Sequence analysis of the entire coding region	General University Hospital in Prague, Institute of Inherited Metabolic Disorders	Canavan Disease	ASPA,			CODE: 14448	Add to Cart Add to Compare List
cblE - Sequence analysis of the entire coding region	General University Hospital in Prague, Institute of Inherited Metabolic Disorders	cblE	MTRR,			CODE: 14449	Add to Cart Add to Compare List
CLN3-Related Neuronal Ceroid-Lipofuscinosis - Sequence analysis of the entire coding region	General University Hospital in Prague, Institute of Inherited Metabolic Disorders	CLN3-Related Neuronal Ceroid-Lipofuscinosis				CODE: 14450	Add to Cart Add to Compare List
CLN5-Related Neuronal Ceroid-Lipofuscinosis - Sequence analysis of the entire coding region	General University Hospital in Prague, Institute of Inherited Metabolic Disorders	CLN5-Related Neuronal Ceroid-Lipofuscinosis				CODE: 14451	Add to Cart Add to Compare List
CLN6-Related Neuronal Ceroid-Lipofuscinosis - Sequence analysis of the entire coding region	General University Hospital in Prague, Institute of Inherited Metabolic Disorders	CLN6-Related Neuronal Ceroid-Lipofuscinosis				CODE: 14452	Add to Cart Add to Compare List

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