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Manchester St Mary's Hospital, Regional Genetics Laboratories

Disorder	Genes	Test Method	Lab Info	Product code
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia - Deletion/duplication analysis	Manchester St Mary's Hospital, Regional Genetics Laboratories	21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia	CYP21A2,			CODE: 20034	Add to Cart Add to Compare List
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia - Linkage analysis	Manchester St Mary's Hospital, Regional Genetics Laboratories	21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia	CYP21A2,	Linkage analysis		CODE: 20033	Add to Cart Add to Compare List
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia - Targeted mutation analysis	Manchester St Mary's Hospital, Regional Genetics Laboratories	21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia	CYP21A2,	Targeted mutation analysis		CODE: 20032	Add to Cart Add to Compare List
Angelman Syndrome - Methylation analysis	Manchester St Mary's Hospital, Regional Genetics Laboratories	Angelman Syndrome	UBE3A,			CODE: 20036	Add to Cart Add to Compare List
Angelman Syndrome - Sequence analysis of select exons	Manchester St Mary's Hospital, Regional Genetics Laboratories	Angelman Syndrome	UBE3A,	Sequence analysis of select exons		CODE: 20035	Add to Cart Add to Compare List
BRAF-Related Cardiofaciocutaneous Syndrome - Sequence analysis of the entire coding region	Manchester St Mary's Hospital, Regional Genetics Laboratories	BRAF-Related Cardiofaciocutaneous Syndrome	BRAF,			CODE: 20037	Add to Cart Add to Compare List
BRAF-Related LEOPARD Syndrome - Sequence analysis of select exons	Manchester St Mary's Hospital, Regional Genetics Laboratories	BRAF-Related LEOPARD Syndrome	BRAF,	Sequence analysis of select exons		CODE: 20038	Add to Cart Add to Compare List
CFTR-Related Disorders - Deletion/duplication analysis	Manchester St Mary's Hospital, Regional Genetics Laboratories	CFTR-Related Disorders	CFTR,			CODE: 20040	Add to Cart Add to Compare List
CFTR-Related Disorders - Sequence analysis of the entire coding region	Manchester St Mary's Hospital, Regional Genetics Laboratories	CFTR-Related Disorders	CFTR,			CODE: 20039	Add to Cart Add to Compare List
COL9A1-Related Multiple Epiphyseal Dysplasia - Sequence analysis of select exons	Manchester St Mary's Hospital, Regional Genetics Laboratories	COL9A1-Related Multiple Epiphyseal Dysplasia	COL9A1,	Sequence analysis of select exons		CODE: 20041	Add to Cart Add to Compare List
COL9A2-Related Multiple Epiphyseal Dysplasia - Sequence analysis of select exons	Manchester St Mary's Hospital, Regional Genetics Laboratories	COL9A2-Related Multiple Epiphyseal Dysplasia	COL9A2,	Sequence analysis of select exons		CODE: 20042	Add to Cart Add to Compare List
COL9A3-Related Multiple Epiphyseal Dysplasia - Sequence analysis of select exons	Manchester St Mary's Hospital, Regional Genetics Laboratories	COL9A3-Related Multiple Epiphyseal Dysplasia	COL9A3,	Sequence analysis of select exons		CODE: 20043	Add to Cart Add to Compare List

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