Pfeiffer Syndrome

TEST CODE MG02410
TEST NAME Pfeiffer Syndrome
RELATED GENE FGFR2
SYNONYMOUS FGFR2
OMIM 101600
HEREDITY Autosomal Dominant
CLINICAL AREA Pfeiffer Syndrome is an autosomal dominantly inherited disease. Mutations in the FGFR2 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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