Bardet Biedl Syndrome Type17

TEST CODE MG06210
TEST NAME Bardet Biedl Syndrome Type17
RELATED GENE LZTFL1
SYNONYMOUS LZTFL1
OMIM 615994
HEREDITY Autosomal Recessive
CLINICAL AREA Bardet Biedl Syndrome Type 17 is an Autosomal Recessively inherited disease. Mutations in the LZTFL1 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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