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Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics

Disorder	Genes	Test Method	Lab Info	Product code
11-beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia - Sequence analysis of the entire coding region	Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics	11-beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia	CYP11B1,	Sequence analysis of the entire coding region		CODE: 6295	Add to Cart Add to Compare List
ABCC8-Related Hyperinsulinism - Deletion/duplication analysis	Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics	ABCC8-Related Hyperinsulinism	ABCC8,	Deletion/duplication analysis		CODE: 6297	Add to Cart Add to Compare List
ABCC8-Related Hyperinsulinism - Sequence analysis of the entire coding region	Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics	ABCC8-Related Hyperinsulinism	ABCC8,	Sequence analysis of the entire coding region		CODE: 6296	Add to Cart Add to Compare List
ABCC8-Related Permanent Neonatal Diabetes Mellitus - Deletion/duplication analysis	Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics	ABCC8-Related Permanent Neonatal Diabetes Mellitus	ABCC8,	Deletion/duplication analysis		CODE: 6299	Add to Cart Add to Compare List
ABCC8-Related Permanent Neonatal Diabetes Mellitus - Sequence analysis of the entire coding region	Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics	ABCC8-Related Permanent Neonatal Diabetes Mellitus	ABCC8,	Sequence analysis of the entire coding region		CODE: 6298	Add to Cart Add to Compare List
Adenine Phosphoribosyltransferase Deficiency - Sequence analysis of the entire coding region	Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics	Adenine Phosphoribosyltransferase Deficiency	APRT,	Sequence analysis of the entire coding region		CODE: 6300	Add to Cart Add to Compare List
Alstrom Syndrome - Sequence analysis of the entire coding region	Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics	Alstrom Syndrome	ALMS1,	Sequence analysis of the entire coding region		CODE: 6301	Add to Cart Add to Compare List
Antenatal Bartter Syndrome Type 1 - Sequence analysis of the entire coding region	Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics	Antenatal Bartter Syndrome Type 1	SLC12A1,	Sequence analysis of the entire coding region		CODE: 6302	Add to Cart Add to Compare List
Antenatal Bartter Syndrome Type 2 - Sequence analysis of the entire coding region	Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics	Antenatal Bartter Syndrome Type 2	KCNJ1,	Sequence analysis of the entire coding region		CODE: 6303	Add to Cart Add to Compare List
Antithrombin-III Deficiency - Deletion/duplication analysis	Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics	Antithrombin-III Deficiency	SERPINC1,	Deletion/duplication analysis		CODE: 6305	Add to Cart Add to Compare List
Antithrombin-III Deficiency - Sequence analysis of the entire coding region	Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics	Antithrombin-III Deficiency	SERPINC1,	Sequence analysis of the entire coding region		CODE: 6304	Add to Cart Add to Compare List
Apolipoprotein C-II Deficiency - Sequence analysis of the entire coding region	Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics	Apolipoprotein C-II Deficiency	APOC2,	Sequence analysis of the entire coding region		CODE: 6306	Add to Cart Add to Compare List

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