Joubert Syndrome

TEST CODE MG01470
TEST NAME Joubert Syndrome
RELATED GENE NPHP3
SYNONYMOUS NPHP3
OMIM 604387, 608002
HEREDITY Autosomal Recessive
CLINICAL AREA Joubert Syndrome is an Autosomal Recessively inherited disease. Mutations in the NPHP3 gene have been associated with the disease.
METHOD Next Generation Sequencing
SAMPLE TYPE Blood with EDTA
QUANTITY 3 mL
TAT 15 DAYS

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