Opitz BBB Syndrome Type 1

TEST CODE MG04940
TEST NAME Opitz BBB Syndrome Type 1
RELATED GENE MID1
SYNONYMOUS MID1
OMIM 300000
HEREDITY X-Linked Recessive
CLINICAL AREA Opitz BBB Syndrome Type 1 is an X-linked recessive disease. Mutations in the MID1 gene have been associated with the disease.
METHOD Next Generation Sequencing
SAMPLE TYPE Blood with EDTA
QUANTITY 3 mL
TAT 20 DAYS

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