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Boston Children's Hospital, Genetics Diagnostic Laboratory

Disorder	Genes	Test Method	Lab Info	Product code
Epileptic Encephalopathy, Early Infantile, 2 - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	Epileptic Encephalopathy, Early Infantile, 2	CDKL5,	Sequence analysis of the entire coding region		CODE: 4298	Add to Cart Add to Compare List
ERCC6-Related Cockayne Syndrome - Deletion/duplication analysis	Boston Children's Hospital, Genetics Diagnostic Laboratory	ERCC6-Related Cockayne Syndrome		Deletion/duplication analysis		CODE: 4300	Add to Cart Add to Compare List
ERCC6-Related Cockayne Syndrome - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	ERCC6-Related Cockayne Syndrome		Sequence analysis of the entire coding region		CODE: 4299	Add to Cart Add to Compare List
ERCC8-Related Cockayne Syndrome - Deletion/duplication analysis	Boston Children's Hospital, Genetics Diagnostic Laboratory	ERCC8-Related Cockayne Syndrome		Deletion/duplication analysis		CODE: 4302	Add to Cart Add to Compare List
ERCC8-Related Cockayne Syndrome - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	ERCC8-Related Cockayne Syndrome		Sequence analysis of the entire coding region		CODE: 4301	Add to Cart Add to Compare List
Factor V Leiden Thrombophilia - Targeted mutation analysis	Boston Children's Hospital, Genetics Diagnostic Laboratory	Factor V Leiden Thrombophilia	F5,	Targeted mutation analysis		CODE: 4303	Add to Cart Add to Compare List
Factor XIII Subunit A Deficiency - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	Factor XIII Subunit A Deficiency	F13A1,	Sequence analysis of the entire coding region		CODE: 4304	Add to Cart Add to Compare List
Factor XIII Subunit B Deficiency - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	Factor XIII Subunit B Deficiency	F13B,	Sequence analysis of the entire coding region		CODE: 4305	Add to Cart Add to Compare List
Familial Chloride Diarrhea - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	Familial Chloride Diarrhea	SLC26A3,	Sequence analysis of the entire coding region		CODE: 4306	Add to Cart Add to Compare List
Familial Horizontal Gaze Palsy with Progressive Scoliosis - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	Familial Horizontal Gaze Palsy with Progressive Scoliosis	ROBO3,	Sequence analysis of the entire coding region		CODE: 4307	Add to Cart Add to Compare List
FANCA-Related Fanconi Anemia - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	FANCA-Related Fanconi Anemia		Sequence analysis of the entire coding region		CODE: 4308	Add to Cart Add to Compare List
FANCC-Related Fanconi Anemia - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	FANCC-Related Fanconi Anemia		Sequence analysis of the entire coding region		CODE: 4309	Add to Cart Add to Compare List

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