Craniofrontonasal Dysplasia

TEST CODE MG04170
TEST NAME Craniofrontonasal Dysplasia
RELATED GENE EFNB1
SYNONYMOUS EFNB1
OMIM 304110
HEREDITY X’e Bağlı Dominant
CLINICAL AREA Craniofrontonasal Dysplasia is an X-linked dominantly inherited disease. Mutations in the EFNB1 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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