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Table 1 Information about five selected genetic tests

From: EHR based Genetic Testing Knowledge Base (iGTKB) Development

Test ID

Genetic test Name

Genetic Disorder

82993

Alpha-1 Antitrypsin

Alpha 1-antitrypsin deficiency

81508

Hemochromatosis HFE Gene Analysis, Blood

Hereditary hemochromatosis

61247

EGFR Gene. Mutation Analysis

Lung Cancer

9497

Cystic Fibrosis Mutation Analysis, 106 Mutation Panel

Cystic Fibrosis

9569

Fragile X Syndrome, Molecular Analysis

Fragile X Syndrome