Langer-Giedion Syndrome

TEST CODE MG01700
TEST NAME Langer-Giedion Syndrome
RELATED GENE TRPS1
SYNONYMOUS TRPS1
OMIM 604386
HEREDITY Autosomal Dominant
CLINICAL AREA Langer – Giedion Syndrome is an Autosomal Dominant 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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