Crisponi Syndrome

TEST CODE MG05220
TEST NAME Crisponi Syndrome
RELATED GENE CRLF1
SYNONYMOUS CRLF1
OMIM 272430
HEREDITY Autosomal Recessive
CLINICAL AREA Crisponi Syndrome is an Autosomal Recessively inherited disease. Mutations in the CRLF1 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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