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Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases

Disorder	Genes	Test Method	Lab Info	Product code
ATP6V0A2-Related Cutis Laxa - Sequence analysis of the entire coding region	Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases	ATP6V0A2-Related Cutis Laxa	ATP6V0A2,			CODE: 26675	Add to Cart Add to Compare List
C10orf2-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form - Sequence analysis of the entire coding region	Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases	C10orf2-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form	C10orf2,			CODE: 26676	Add to Cart Add to Compare List
C3-Related Atypical Hemolytic-Uremic Syndrome - Sequence analysis of the entire coding region	Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases	C3-Related Atypical Hemolytic-Uremic Syndrome	C3,			CODE: 26677	Add to Cart Add to Compare List
CD46-Related Atypical Hemolytic-Uremic Syndrome - Sequence analysis of the entire coding region	Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases	CD46-Related Atypical Hemolytic-Uremic Syndrome	CD46,			CODE: 26678	Add to Cart Add to Compare List
CFB-Related Atypical Hemolytic-Uremic Syndrome - Sequence analysis of the entire coding region	Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases	CFB-Related Atypical Hemolytic-Uremic Syndrome	CFB,			CODE: 26679	Add to Cart Add to Compare List
CFH-Related Atypical Hemolytic-Uremic Syndrome - Sequence analysis of the entire coding region	Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases	CFH-Related Atypical Hemolytic-Uremic Syndrome	CFH,			CODE: 26680	Add to Cart Add to Compare List
CFI-Related Atypical Hemolytic-Uremic Syndrome - Sequence analysis of the entire coding region	Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases	CFI-Related Atypical Hemolytic-Uremic Syndrome	CFI,			CODE: 26681	Add to Cart Add to Compare List
DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form - Sequence analysis of the entire coding region	Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases	DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form	DGUOK,			CODE: 26682	Add to Cart Add to Compare List
Dihydrolipoamide Dehydrogenase E3 Deficiency - Sequence analysis of the entire coding region	Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases	Dihydrolipoamide Dehydrogenase E3 Deficiency	DLD,			CODE: 26683	Add to Cart Add to Compare List
Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency - Enzyme assay	Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases	Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency	CBS,	Enzyme assay		CODE: 26685	Add to Cart Add to Compare List
Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency - Targeted mutation analysis	Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases	Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency	CBS,	Targeted mutation analysis		CODE: 26684	Add to Cart Add to Compare List
Leber Hereditary Optic Neuropathy - Targeted mutation analysis	Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases	Leber Hereditary Optic Neuropathy	MT-ATP6, MT-CO3, MT-CYB, MT-ND1, MT-ND4, MT-ND4L, MT-ND5, MT-ND6,	Targeted mutation analysis		CODE: 26686	Add to Cart Add to Compare List

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