Noonan Syndrome Type 1

TEST CODE MG02240
TEST NAME Noonan Syndrome Type 1
RELATED GENE PTPN11
SYNONYMOUS PTPN11
OMIM 163950
HEREDITY Autosomal Dominant
CLINICAL AREA Noonan Syndrome Type 1 is an autosomal dominantly inherited disease. Mutations in the PTPN11 gene have been associated with the disease.
METHOD Next Generation Sequencing
SAMPLE TYPE Blood with EDTA
QUANTITY 3 mL
TAT 40 DAYS

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