Trichorinophalangeal Syndrome Type1

TEST CODE MG06170
TEST NAME Trichorinophalangeal Syndrome Type1
RELATED GENE TRPS1
SYNONYMOUS TRPS1
OMIM 190350
HEREDITY Autosomal Dominant
CLINICAL AREA Trichorhinophalangeal Syndrome Type 1 is an autosomal dominantly inherited disease. Mutations in the TRPS1 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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