Bardet Biedl Syndrome Type 2

TEST CODE MG00660
TEST NAME Bardet Biedl Syndrome Type 2
RELATED GENE BBS2
SYNONYMOUS BBS2
OMIM 615981
HEREDITY Autosomal Recessive
CLINICAL AREA Bardet Biedl Syndrome Type 2 (BBS2) is an Autosomal Recessively inherited disease. Mutations in the BBS2 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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