Horizontal Gaze Palsy Progressive Scoliosis Type 1

TEST CODE MG08470
TEST NAME Horizontal Gaze Palsy Progressive Scoliosis Type 1
RELATED GENE ROBO3
SYNONYMOUS ROBO3
OMIM 608630
HEREDITY Autosomal Recessive
CLINICAL AREA Horizontal Gaze Palsy Progressive Scoliosis Type 1 is an Autosomal Recessively inherited disease. Mutations in the ROBO3 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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