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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