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Faculty of Medicine, Pontificia Universidad Católica de Chile, Molecular Genetics and Cytogenetics, Clinical Laboratory Service

Disorder	Genes	Test Method	Lab Info	Product code
Achondroplasia - Targeted mutation analysis	Faculty of Medicine, Pontificia Universidad CatÃ³lica de Chile, Molecular Genetics and Cytogenetics, Clinical Laboratory Service	Achondroplasia	FGFR3,	Targeted mutation analysis		CODE: 13329	Add to Cart Add to Compare List
Alpha1-Antitrypsin Deficiency - Targeted mutation analysis	Faculty of Medicine, Pontificia Universidad CatÃ³lica de Chile, Molecular Genetics and Cytogenetics, Clinical Laboratory Service	Alpha1-Antitrypsin Deficiency	SERPINA1,	Targeted mutation analysis		CODE: 13330	Add to Cart Add to Compare List
CFTR-Related Disorders - Targeted mutation analysis	Faculty of Medicine, Pontificia Universidad CatÃ³lica de Chile, Molecular Genetics and Cytogenetics, Clinical Laboratory Service	CFTR-Related Disorders	CFTR,	Targeted mutation analysis		CODE: 13331	Add to Cart Add to Compare List
Dystrophinopathies - Deletion/duplication analysis	Faculty of Medicine, Pontificia Universidad CatÃ³lica de Chile, Molecular Genetics and Cytogenetics, Clinical Laboratory Service	Dystrophinopathies	DMD,	Deletion/duplication analysis		CODE: 13332	Add to Cart Add to Compare List
FMR1-Related Disorders - Methylation analysis	Faculty of Medicine, Pontificia Universidad CatÃ³lica de Chile, Molecular Genetics and Cytogenetics, Clinical Laboratory Service	FMR1-Related Disorders	FMR1,	Methylation analysis		CODE: 13334	Add to Cart Add to Compare List
FMR1-Related Disorders - Targeted mutation analysis	Faculty of Medicine, Pontificia Universidad CatÃ³lica de Chile, Molecular Genetics and Cytogenetics, Clinical Laboratory Service	FMR1-Related Disorders	FMR1,	Targeted mutation analysis		CODE: 13333	Add to Cart Add to Compare List
GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness - Sequence analysis of the entire coding region	Faculty of Medicine, Pontificia Universidad CatÃ³lica de Chile, Molecular Genetics and Cytogenetics, Clinical Laboratory Service	GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness		Sequence analysis of the entire coding region		CODE: 13335	Add to Cart Add to Compare List
GJB6-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness - Targeted mutation analysis	Faculty of Medicine, Pontificia Universidad CatÃ³lica de Chile, Molecular Genetics and Cytogenetics, Clinical Laboratory Service	GJB6-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness		Targeted mutation analysis		CODE: 13336	Add to Cart Add to Compare List
Hemophilia A - Sequence analysis of the entire coding region	Faculty of Medicine, Pontificia Universidad CatÃ³lica de Chile, Molecular Genetics and Cytogenetics, Clinical Laboratory Service	Hemophilia A	F8,	Sequence analysis of the entire coding region		CODE: 13337	Add to Cart Add to Compare List
Hemophilia A - Targeted mutation analysis	Faculty of Medicine, Pontificia Universidad CatÃ³lica de Chile, Molecular Genetics and Cytogenetics, Clinical Laboratory Service	Hemophilia A	F8,	Targeted mutation analysis		CODE: 13338	Add to Cart Add to Compare List
HFE-Associated Hereditary Hemochromatosis - Targeted mutation analysis	Faculty of Medicine, Pontificia Universidad CatÃ³lica de Chile, Molecular Genetics and Cytogenetics, Clinical Laboratory Service	HFE-Associated Hereditary Hemochromatosis	HFE,	Targeted mutation analysis		CODE: 13339	Add to Cart Add to Compare List
Hypochondroplasia - Targeted mutation analysis	Faculty of Medicine, Pontificia Universidad CatÃ³lica de Chile, Molecular Genetics and Cytogenetics, Clinical Laboratory Service	Hypochondroplasia	FGFR3,	Targeted mutation analysis		CODE: 13340	Add to Cart Add to Compare List

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