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Klinikum Stuttgart, Institute of Clinical Genetics

Disorder	Genes	Test Method	Lab Info	Product code
11-beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia - Sequence analysis of the entire coding region	Klinikum Stuttgart, Institute of Clinical Genetics	11-beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia	CYP11B1,	Sequence analysis of the entire coding region		CODE: 18545	Add to Cart Add to Compare List
17-alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia - Sequence analysis of the entire coding region	Klinikum Stuttgart, Institute of Clinical Genetics	17-alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia	CYP17A1,	Sequence analysis of the entire coding region		CODE: 18546	Add to Cart Add to Compare List
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia - Sequence analysis of the entire coding region	Klinikum Stuttgart, Institute of Clinical Genetics	21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia	CYP21A2,	Sequence analysis of the entire coding region		CODE: 18547	Add to Cart Add to Compare List
3-beta-Hydroxysteroid Dehydrogenase-Deficient Congenital Adrenal Hyperplasia - Sequence analysis of the entire coding region	Klinikum Stuttgart, Institute of Clinical Genetics	3-beta-Hydroxysteroid Dehydrogenase-Deficient Congenital Adrenal Hyperplasia	HSD3B2,	Sequence analysis of the entire coding region		CODE: 18548	Add to Cart Add to Compare List
3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency - Sequence analysis of the entire coding region	Klinikum Stuttgart, Institute of Clinical Genetics	3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency	HADH,	Sequence analysis of the entire coding region		CODE: 18549	Add to Cart Add to Compare List
Abetalipoproteinemia - Sequence analysis of the entire coding region	Klinikum Stuttgart, Institute of Clinical Genetics	Abetalipoproteinemia	MTTP,	Sequence analysis of the entire coding region		CODE: 18550	Add to Cart Add to Compare List
Acid Sphingomyelinase Deficiency - Sequence analysis of the entire coding region	Klinikum Stuttgart, Institute of Clinical Genetics	Acid Sphingomyelinase Deficiency	SMPD1,	Sequence analysis of the entire coding region		CODE: 18551	Add to Cart Add to Compare List
ACTA2-Related Thoracic Aortic Aneurysms and Aortic Dissections - Sequence analysis of the entire coding region	Klinikum Stuttgart, Institute of Clinical Genetics	ACTA2-Related Thoracic Aortic Aneurysms and Aortic Dissections	ACTA2,	Sequence analysis of the entire coding region		CODE: 18552	Add to Cart Add to Compare List
Acute Intermittent Porphyria - Sequence analysis of the entire coding region	Klinikum Stuttgart, Institute of Clinical Genetics	Acute Intermittent Porphyria	HMBS,	Sequence analysis of the entire coding region		CODE: 18553	Add to Cart Add to Compare List
ACVRL1-Related Hereditary Hemorrhagic Telangiectasia - Sequence analysis of the entire coding region	Klinikum Stuttgart, Institute of Clinical Genetics	ACVRL1-Related Hereditary Hemorrhagic Telangiectasia	ACVRL1,	Sequence analysis of the entire coding region		CODE: 18554	Add to Cart Add to Compare List
AHI1-Related Joubert Syndrome - Sequence analysis of the entire coding region	Klinikum Stuttgart, Institute of Clinical Genetics	AHI1-Related Joubert Syndrome		Sequence analysis of the entire coding region		CODE: 18555	Add to Cart Add to Compare List
ALG2-CDG (CDG-Ii) - Sequence analysis of the entire coding region	Klinikum Stuttgart, Institute of Clinical Genetics	ALG2-CDG (CDG-Ii)	ALG2,	Sequence analysis of the entire coding region		CODE: 18556	Add to Cart Add to Compare List

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