Opitz BBB Syndrome Type 2

TEST CODE MG04950
TEST NAME Opitz BBB Syndrome Type 2
RELATED GENE SPECC1L
SYNONYMOUS SPECC1L
OMIM 145410
HEREDITY Autosomal Dominant
CLINICAL AREA Opitz BBB Syndrome Type 2 is an Autosomal Dominant inherited disease. Mutations in the SPECC1L gene have been associated with the disease.
METHOD Next Generation Sequencing
SAMPLE TYPE Blood with EDTA / Mucosa / Amniotic Fluid
QUANTITY 3 mL
TAT 20 DAYS

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