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Boston Children's Hospital, Genetics Diagnostic Laboratory

Disorder	Genes	Test Method	Lab Info	Product code
Prothrombin-Related Thrombophilia - Targeted mutation analysis	Boston Children's Hospital, Genetics Diagnostic Laboratory	Prothrombin-Related Thrombophilia	F2,	Targeted mutation analysis		CODE: 4358	Add to Cart Add to Compare List
PTEN Hamartoma Tumor Syndrome (PHTS) - Deletion/duplication analysis	Boston Children's Hospital, Genetics Diagnostic Laboratory	PTEN Hamartoma Tumor Syndrome (PHTS)	PTEN,	Deletion/duplication analysis		CODE: 4360	Add to Cart Add to Compare List
PTEN Hamartoma Tumor Syndrome (PHTS) - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	PTEN Hamartoma Tumor Syndrome (PHTS)	PTEN,	Sequence analysis of the entire coding region		CODE: 4359	Add to Cart Add to Compare List
PTPN11-Related Noonan Syndrome - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	PTPN11-Related Noonan Syndrome	PTPN11,	Sequence analysis of the entire coding region		CODE: 4361	Add to Cart Add to Compare List
RAF1-Related Noonan Syndrome - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	RAF1-Related Noonan Syndrome	RAF1,	Sequence analysis of the entire coding region		CODE: 4362	Add to Cart Add to Compare List
Rett Syndrome, Congenital Variant - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	Rett Syndrome, Congenital Variant	FOXG1,	Sequence analysis of the entire coding region		CODE: 4363	Add to Cart Add to Compare List
RPL11-Related Diamond-Blackfan Anemia - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	RPL11-Related Diamond-Blackfan Anemia	RPL11,	Sequence analysis of the entire coding region		CODE: 4364	Add to Cart Add to Compare List
RPL5-Related Diamond-Blackfan Anemia - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	RPL5-Related Diamond-Blackfan Anemia	RPL5,	Sequence analysis of the entire coding region		CODE: 4365	Add to Cart Add to Compare List
RPS19-Related Diamond-Blackfan Anemia - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	RPS19-Related Diamond-Blackfan Anemia	RPS19,	Sequence analysis of the entire coding region		CODE: 4366	Add to Cart Add to Compare List
RPS24-Related Diamond-Blackfan Anemia - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	RPS24-Related Diamond-Blackfan Anemia	RPS24,	Sequence analysis of the entire coding region		CODE: 4367	Add to Cart Add to Compare List
Saethre-Chotzen Syndrome - Deletion/duplication analysis	Boston Children's Hospital, Genetics Diagnostic Laboratory	Saethre-Chotzen Syndrome	TWIST1,	Deletion/duplication analysis		CODE: 4369	Add to Cart Add to Compare List
Saethre-Chotzen Syndrome - Sequence analysis of the entire coding region	Boston Children's Hospital, Genetics Diagnostic Laboratory	Saethre-Chotzen Syndrome	TWIST1,	Sequence analysis of the entire coding region		CODE: 4368	Add to Cart Add to Compare List

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