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Boston Children's Hospital, Genetics Diagnostic Laboratory

Disorder	Genes	Test Method	Lab Info	Product code
Neurofibromatosis 1 - Deletion/duplication analysis	Boston Children's Hospital, Genetics Diagnostic Laboratory	Neurofibromatosis 1	NF1,	Deletion/duplication analysis		CODE: 4346	Add to Cart Add to Compare List
Neurofibromatosis 2 - Deletion/duplication analysis	Boston Children's Hospital, Genetics Diagnostic Laboratory	Neurofibromatosis 2	NF2,	Deletion/duplication analysis		CODE: 4347	Add to Cart Add to Compare List
Oculocutaneous Albinism Type 1 - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	Oculocutaneous Albinism Type 1	TYR,	Sequence analysis of the entire coding region		CODE: 4348	Add to Cart Add to Compare List
Oculocutaneous Albinism Type 2 - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	Oculocutaneous Albinism Type 2	OCA2,	Sequence analysis of the entire coding region		CODE: 4349	Add to Cart Add to Compare List
Oculocutaneous Albinism Type 2 - Targeted mutation analysis	Boston Children's Hospital, Genetics Diagnostic Laboratory	Oculocutaneous Albinism Type 2	OCA2,	Targeted mutation analysis		CODE: 4350	Add to Cart Add to Compare List
Orofacial Cleft 5 - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	Orofacial Cleft 5		Sequence analysis of the entire coding region		CODE: 4351	Add to Cart Add to Compare List
PHOX2A-Related Congenital Fibrosis of the Extraocular Muscles - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	PHOX2A-Related Congenital Fibrosis of the Extraocular Muscles		Sequence analysis of the entire coding region		CODE: 4352	Add to Cart Add to Compare List
Pitt-Hopkins Syndrome - Deletion/duplication analysis	Boston Children's Hospital, Genetics Diagnostic Laboratory	Pitt-Hopkins Syndrome	TCF4,	Deletion/duplication analysis		CODE: 4354	Add to Cart Add to Compare List
Pitt-Hopkins Syndrome - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	Pitt-Hopkins Syndrome	TCF4,	Sequence analysis of the entire coding region		CODE: 4353	Add to Cart Add to Compare List
Polymicrogyria - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	Polymicrogyria	GPR56,	Sequence analysis of the entire coding region		CODE: 4355	Add to Cart Add to Compare List
Prader-Willi Syndrome - Deletion/duplication analysis	Boston Children's Hospital, Genetics Diagnostic Laboratory	Prader-Willi Syndrome		Deletion/duplication analysis		CODE: 4357	Add to Cart Add to Compare List
Prader-Willi Syndrome - Methylation analysis	Boston Children's Hospital, Genetics Diagnostic Laboratory	Prader-Willi Syndrome		Methylation analysis		CODE: 4356	Add to Cart Add to Compare List

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