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Diagenom GmbH, Medical Genetics Laboratory

Disorder	Genes	Test Method	Lab Info	Product code
11-beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia - Sequence analysis of the entire coding region	Diagenom GmbH, Medical Genetics Laboratory	11-beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia	CYP11B1,	Sequence analysis of the entire coding region		CODE: 10801	Add to Cart Add to Compare List
17-alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia - Sequence analysis of the entire coding region	Diagenom GmbH, Medical Genetics Laboratory	17-alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia	CYP17A1,	Sequence analysis of the entire coding region		CODE: 10802	Add to Cart Add to Compare List
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia - Deletion/duplication analysis	Diagenom GmbH, Medical Genetics Laboratory	21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia	CYP21A2,	Deletion/duplication analysis		CODE: 10805	Add to Cart Add to Compare List
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia - Sequence analysis of the entire coding region	Diagenom GmbH, Medical Genetics Laboratory	21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia	CYP21A2,	Sequence analysis of the entire coding region		CODE: 10803	Add to Cart Add to Compare List
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia - Targeted mutation analysis	Diagenom GmbH, Medical Genetics Laboratory	21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia	CYP21A2,	Targeted mutation analysis		CODE: 10804	Add to Cart Add to Compare List
3-beta-Hydroxysteroid Dehydrogenase-Deficient Congenital Adrenal Hyperplasia - Sequence analysis of the entire coding region	Diagenom GmbH, Medical Genetics Laboratory	3-beta-Hydroxysteroid Dehydrogenase-Deficient Congenital Adrenal Hyperplasia	HSD3B2,	Sequence analysis of the entire coding region		CODE: 10806	Add to Cart Add to Compare List
6-Pyruvoyltetrahydropterin Synthase Deficiency - Sequence analysis of the entire coding region	Diagenom GmbH, Medical Genetics Laboratory	6-Pyruvoyltetrahydropterin Synthase Deficiency	PTS,	Sequence analysis of the entire coding region		CODE: 10807	Add to Cart Add to Compare List
ABCC8-Related Hyperinsulinism - Deletion/duplication analysis	Diagenom GmbH, Medical Genetics Laboratory	ABCC8-Related Hyperinsulinism	ABCC8,	Deletion/duplication analysis		CODE: 10809	Add to Cart Add to Compare List
ABCC8-Related Hyperinsulinism - Sequence analysis of the entire coding region	Diagenom GmbH, Medical Genetics Laboratory	ABCC8-Related Hyperinsulinism	ABCC8,	Sequence analysis of the entire coding region		CODE: 10808	Add to Cart Add to Compare List
Achondroplasia - Sequence analysis of select exons	Diagenom GmbH, Medical Genetics Laboratory	Achondroplasia	FGFR3,	Sequence analysis of select exons		CODE: 10811	Add to Cart Add to Compare List
Achondroplasia - Sequence analysis of the entire coding region	Diagenom GmbH, Medical Genetics Laboratory	Achondroplasia	FGFR3,	Sequence analysis of the entire coding region		CODE: 10810	Add to Cart Add to Compare List
Acid Sphingomyelinase Deficiency - Sequence analysis of the entire coding region	Diagenom GmbH, Medical Genetics Laboratory	Acid Sphingomyelinase Deficiency	SMPD1,	Sequence analysis of the entire coding region		CODE: 10812	Add to Cart Add to Compare List

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