Frank-ter Haar Syndrome

TEST CODE MG09260
TEST NAME Frank-ter Haar Syndrome
RELATED GENE SH3PXD2B
SYNONYMOUS SH3PXD2B
OMIM 613293
HEREDITY Autosomal Recessive
CLINICAL AREA Frank-ter Haar Syndrome is an autosomal recessive disease. Mutations in the SH3PXD2B 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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