Townes - Brocks Syndrome Type 1

TEST CODE MG05000
TEST NAME Townes – Brocks Syndrome Type 1
RELATED GENE SALL1
SYNONYMOUS SALL1
OMIM 107480
HEREDITY Autosomal Dominant
CLINICAL AREA Townes – Brocks Syndrome Type 1 is an Autosomal Dominant inherited disease. Mutations in the SALL1 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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