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Boston Children's Hospital, Genetics Diagnostic Laboratory

Disorder	Genes	Test Method	Lab Info	Product code
SALL4-Related Disorders - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	SALL4-Related Disorders	SALL4,	Sequence analysis of the entire coding region		CODE: 4370	Add to Cart Add to Compare List
SCN1B-Related Generalized Epilepsy with Febrile Seizures Plus - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	SCN1B-Related Generalized Epilepsy with Febrile Seizures Plus	SCN1B,	Sequence analysis of the entire coding region		CODE: 4371	Add to Cart Add to Compare List
Severe Congenital Neutropenia, Autosomal Recessive, 3 - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	Severe Congenital Neutropenia, Autosomal Recessive, 3	HAX1,	Sequence analysis of the entire coding region		CODE: 4372	Add to Cart Add to Compare List
Shwachman-Diamond Syndrome - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	Shwachman-Diamond Syndrome	SBDS,	Sequence analysis of the entire coding region		CODE: 4373	Add to Cart Add to Compare List
SLC26A4-Related Pendred Syndrome - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	SLC26A4-Related Pendred Syndrome		Sequence analysis of the entire coding region		CODE: 4374	Add to Cart Add to Compare List
SLC9A6-Related Syndromic Mental Retardation - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	SLC9A6-Related Syndromic Mental Retardation	SLC9A6,	Sequence analysis of the entire coding region		CODE: 4375	Add to Cart Add to Compare List
Smith-Lemli-Opitz Syndrome - Sequence analysis of select exons	Boston Children's Hospital, Genetics Diagnostic Laboratory	Smith-Lemli-Opitz Syndrome	DHCR7,	Sequence analysis of select exons		CODE: 4376	Add to Cart Add to Compare List
Smith-Magenis Syndrome - Deletion/duplication analysis	Boston Children's Hospital, Genetics Diagnostic Laboratory	Smith-Magenis Syndrome	RAI1,	Deletion/duplication analysis		CODE: 4377	Add to Cart Add to Compare List
SOS1-Related Noonan Syndrome - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	SOS1-Related Noonan Syndrome	SOS1,	Sequence analysis of the entire coding region		CODE: 4378	Add to Cart Add to Compare List
Sotos Syndrome - Deletion/duplication analysis	Boston Children's Hospital, Genetics Diagnostic Laboratory	Sotos Syndrome	NSD1,	Deletion/duplication analysis		CODE: 4380	Add to Cart Add to Compare List
Sotos Syndrome - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	Sotos Syndrome	NSD1,	Sequence analysis of the entire coding region		CODE: 4379	Add to Cart Add to Compare List
Spinal Muscular Atrophy (SMN1) - Deletion/duplication analysis	Boston Children's Hospital, Genetics Diagnostic Laboratory	Spinal Muscular Atrophy (SMN1)	SMN1,	Deletion/duplication analysis		CODE: 4382	Add to Cart Add to Compare List

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