Treacher Collins Syndrome Type 1

TEST CODE MG02910
TEST NAME Treacher Collins Syndrome Type 1
RELATED GENE TCOF1
SYNONYMOUS TCOF1
OMIM 154500
HEREDITY Autosomal Dominant
CLINICAL AREA Treacher Collins Syndrome Type 1 is an Autosomal Dominant inherited disease. Mutations in the TCOF1 gene have been associated with the disease.
METHOD Next Generation Sequencing
SAMPLE TYPE Semen / Tese Dokusu
QUANTITY 3 mL
TAT 20 DAYS

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