Albinism Ocultaneous Type 1

TEST CODE MG05630
TEST NAME Albinism Ocultaneous Type 1
RELATED GENE TYR
SYNONYMOUS TYR
OMIM 606933
HEREDITY Autosomal Recessive
CLINICAL AREA Albinism Ocultaneous Type 1 is an Autosomal Recessively inherited disease. Mutations in the TYR 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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