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Boston Children's Hospital, Genetics Diagnostic Laboratory

Disorder	Genes	Test Method	Lab Info	Product code
Galactosemia - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	Galactosemia	GALT,			CODE: 4321	Add to Cart Add to Compare List
GATA1-Related Cytopenia - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	GATA1-Related Cytopenia	GATA1,			CODE: 4323	Add to Cart Add to Compare List
Gilbert Syndrome - Targeted mutation analysis	Boston Children's Hospital, Genetics Diagnostic Laboratory	Gilbert Syndrome	UGT1A1,	Targeted mutation analysis		CODE: 4324	Add to Cart Add to Compare List
GJB2-Related DFNA 3 Nonsyndromic Hearing Loss and Deafness - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	GJB2-Related DFNA 3 Nonsyndromic Hearing Loss and Deafness				CODE: 4325	Add to Cart Add to Compare List
GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness				CODE: 4326	Add to Cart Add to Compare List
GJB6-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness - Targeted mutation analysis	Boston Children's Hospital, Genetics Diagnostic Laboratory	GJB6-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness		Targeted mutation analysis		CODE: 4327	Add to Cart Add to Compare List
HOXA1-Related Disorders - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	HOXA1-Related Disorders	HOXA1,			CODE: 4328	Add to Cart Add to Compare List
Hypochondroplasia - Targeted mutation analysis	Boston Children's Hospital, Genetics Diagnostic Laboratory	Hypochondroplasia	FGFR3,	Targeted mutation analysis		CODE: 4329	Add to Cart Add to Compare List
IRF6-Related Disorders - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	IRF6-Related Disorders	IRF6,			CODE: 4330	Add to Cart Add to Compare List
Iron-Refractory Iron Deficiency Anemia - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	Iron-Refractory Iron Deficiency Anemia	TMPRSS6,			CODE: 4331	Add to Cart Add to Compare List
JAG1-Related Alagille Syndrome - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	JAG1-Related Alagille Syndrome	JAG1,			CODE: 4332	Add to Cart Add to Compare List
KIF21A-Related Congenital Fibrosis of the Extraocular Muscles - Sequence analysis of select exons	Boston Children's Hospital, Genetics Diagnostic Laboratory	KIF21A-Related Congenital Fibrosis of the Extraocular Muscles		Sequence analysis of select exons		CODE: 4333	Add to Cart Add to Compare List

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