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Boston Children's Hospital, Genetics Diagnostic Laboratory

Disorder	Genes	Test Method	Lab Info	Product code
KRAS-Related Noonan Syndrome - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	KRAS-Related Noonan Syndrome	KRAS,	Sequence analysis of the entire coding region		CODE: 4334	Add to Cart Add to Compare List
Legius Syndrome - Deletion/duplication analysis	Boston Children's Hospital, Genetics Diagnostic Laboratory	Legius Syndrome	SPRED1,	Deletion/duplication analysis		CODE: 4336	Add to Cart Add to Compare List
Legius Syndrome - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	Legius Syndrome	SPRED1,	Sequence analysis of the entire coding region		CODE: 4335	Add to Cart Add to Compare List
Macrocephaly/Autism Syndrome - Deletion/duplication analysis	Boston Children's Hospital, Genetics Diagnostic Laboratory	Macrocephaly/Autism Syndrome	PTEN,	Deletion/duplication analysis		CODE: 4338	Add to Cart Add to Compare List
Macrocephaly/Autism Syndrome - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	Macrocephaly/Autism Syndrome	PTEN,	Sequence analysis of the entire coding region		CODE: 4337	Add to Cart Add to Compare List
MECP2-Related Disorders - Deletion/duplication analysis	Boston Children's Hospital, Genetics Diagnostic Laboratory	MECP2-Related Disorders	MECP2,	Deletion/duplication analysis		CODE: 4340	Add to Cart Add to Compare List
MECP2-Related Disorders - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	MECP2-Related Disorders	MECP2,	Sequence analysis of the entire coding region		CODE: 4339	Add to Cart Add to Compare List
MELAS, MT-TL1-Related - Mutation scanning of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	MELAS, MT-TL1-Related	MT-TL1,	Mutation scanning of the entire coding region		CODE: 4341	Add to Cart Add to Compare List
MELAS, MT-TL1-Related - Targeted mutation analysis	Boston Children's Hospital, Genetics Diagnostic Laboratory	MELAS, MT-TL1-Related	MT-TL1,	Targeted mutation analysis		CODE: 4342	Add to Cart Add to Compare List
Mental Retardation, Autosomal Dominant 5 - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	Mental Retardation, Autosomal Dominant 5	SYNGAP1,	Sequence analysis of the entire coding region		CODE: 4343	Add to Cart Add to Compare List
MERRF - Targeted mutation analysis	Boston Children's Hospital, Genetics Diagnostic Laboratory	MERRF	MT-TK,	Targeted mutation analysis		CODE: 4344	Add to Cart Add to Compare List
MT-RNR1-Related Hearing Loss and Deafness - Targeted mutation analysis	Boston Children's Hospital, Genetics Diagnostic Laboratory	MT-RNR1-Related Hearing Loss and Deafness	MT-RNR1,	Targeted mutation analysis		CODE: 4345	Add to Cart Add to Compare List

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