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University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases

Disorder	Genes	Test Method	Lab Info	Product code
Peroxisomal Bifunctional Enzyme Deficiency - Sequence analysis of the entire coding region	University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases	Peroxisomal Bifunctional Enzyme Deficiency	HSD17B4,	Sequence analysis of the entire coding region		CODE: 31170	Add to Cart Add to Compare List
PEX7-Related Refsum Disease - Sequence analysis of the entire coding region	University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases	PEX7-Related Refsum Disease	PEX7,	Sequence analysis of the entire coding region		CODE: 31173	Add to Cart Add to Compare List
PHYH-Related Refsum Disease - Sequence analysis of the entire coding region	University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases	PHYH-Related Refsum Disease	PHYH,	Sequence analysis of the entire coding region		CODE: 31174	Add to Cart Add to Compare List
Pseudoneonatal Adrenoleukodystrophy - Analyte	University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases	Pseudoneonatal Adrenoleukodystrophy	ACOX1,	Analyte		CODE: 31176	Add to Cart Add to Compare List
Pseudoneonatal Adrenoleukodystrophy - Enzyme assay	University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases	Pseudoneonatal Adrenoleukodystrophy	ACOX1,	Enzyme assay		CODE: 31177	Add to Cart Add to Compare List
Pseudoneonatal Adrenoleukodystrophy - Sequence analysis of the entire coding region	University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases	Pseudoneonatal Adrenoleukodystrophy	ACOX1,	Sequence analysis of the entire coding region		CODE: 31175	Add to Cart Add to Compare List
Refsum Disease - Analyte	University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases	Refsum Disease	PEX7, PHYH,	Analyte		CODE: 31178	Add to Cart Add to Compare List
Refsum Disease - Enzyme assay	University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases	Refsum Disease	PEX7, PHYH,	Enzyme assay		CODE: 31179	Add to Cart Add to Compare List
Rhizomelic Chondrodysplasia Punctata Type 1 - Analyte	University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases	Rhizomelic Chondrodysplasia Punctata Type 1	PEX7,	Analyte		CODE: 31181	Add to Cart Add to Compare List
Rhizomelic Chondrodysplasia Punctata Type 1 - Enzyme assay	University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases	Rhizomelic Chondrodysplasia Punctata Type 1	PEX7,	Enzyme assay		CODE: 31182	Add to Cart Add to Compare List
Rhizomelic Chondrodysplasia Punctata Type 1 - Sequence analysis of the entire coding region	University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases	Rhizomelic Chondrodysplasia Punctata Type 1	PEX7,	Sequence analysis of the entire coding region		CODE: 31180	Add to Cart Add to Compare List
Rhizomelic Chondrodysplasia Punctata Type 2 - Analyte	University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases	Rhizomelic Chondrodysplasia Punctata Type 2	GNPAT,	Analyte		CODE: 31184	Add to Cart Add to Compare List

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