Seckel Syndrome

TEST CODE MG02680
TEST NAME Seckel Syndrome
RELATED GENE ATR
SYNONYMOUS ATR
OMIM 210600
HEREDITY Autosomal Recessive
CLINICAL AREA Seckel Syndrome is an autosomal recessively inherited disease. Mutations in the ATR 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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