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Boston Children's Hospital, Genetics Diagnostic Laboratory

Disorder	Genes	Test Method	Lab Info	Product code
Y Chromosome Detection - Deletion/duplication analysis	Boston Children's Hospital, Genetics Diagnostic Laboratory	Y Chromosome Detection		Deletion/duplication analysis		CODE: 4391	Add to Cart Add to Compare List
XPC-Related Xeroderma Pigmentosum - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	XPC-Related Xeroderma Pigmentosum		Sequence analysis of the entire coding region		CODE: 4390	Add to Cart Add to Compare List
XPA-Related Xeroderma Pigmentosum - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	XPA-Related Xeroderma Pigmentosum		Sequence analysis of the entire coding region		CODE: 4389	Add to Cart Add to Compare List
Witkop Syndrome - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	Witkop Syndrome	MSX1,	Sequence analysis of the entire coding region		CODE: 4388	Add to Cart Add to Compare List
Williams Syndrome - Deletion/duplication analysis	Boston Children's Hospital, Genetics Diagnostic Laboratory	Williams Syndrome		Deletion/duplication analysis		CODE: 4387	Add to Cart Add to Compare List
TUBB3-Related Congenital Fibrosis of the Extraocular Muscles - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	TUBB3-Related Congenital Fibrosis of the Extraocular Muscles		Sequence analysis of the entire coding region		CODE: 4386	Add to Cart Add to Compare List
Tooth Agenesis, Selective, 1 - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	Tooth Agenesis, Selective, 1	MSX1,	Sequence analysis of the entire coding region		CODE: 4385	Add to Cart Add to Compare List
Thiopurine S-Methyltransferase Deficiency - Sequence analysis of select exons	Boston Children's Hospital, Genetics Diagnostic Laboratory	Thiopurine S-Methyltransferase Deficiency	TPMT,	Sequence analysis of select exons		CODE: 4384	Add to Cart Add to Compare List
SRY-Related 46,XY DSD and 46,XY CGD - Deletion/duplication analysis	Boston Children's Hospital, Genetics Diagnostic Laboratory	SRY-Related 46,XY DSD and 46,XY CGD	SRY,	Deletion/duplication analysis		CODE: 4383	Add to Cart Add to Compare List
Spinal Muscular Atrophy (SMN1) - Targeted mutation analysis	Boston Children's Hospital, Genetics Diagnostic Laboratory	Spinal Muscular Atrophy (SMN1)	SMN1,	Targeted mutation analysis		CODE: 4381	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
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

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