Part of Screening Contents 篩選內容的一部分: 

• Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive嚴重聯合免疫缺陷，常染色體隱性遺傳，T細胞陰性，B細胞陽性，NK細胞陽性

• Hyper-Immunoglobulin E Syndrome, Autosomal Dominant超免疫球蛋白E綜合征，常染色體顯性遺傳

• Hereditary pancreatitis遺傳性胰腺炎

• COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5大腸癌，遺傳性非淋巴細胞，5型

• Hereditary Renal Cell Carcinoma遺傳性腎細胞癌

• Hereditary Nonpolyposis Colorectal Neoplasms遺傳性非息肉性結直腸腫瘤

• Hereditary Breast and Ovarian Cancer Syndrome遺傳性乳腺癌和卵巢癌綜合症

• Hereditary Malignant Neoplasm遺傳性惡性腫瘤

• Hereditary Leiomyomatosis and Renal Cell Cancer遺傳性平滑肌瘤病和腎細胞癌

• Hereditary Diffuse Gastric Cancer遺傳性瀰漫性胃癌

• OSLER-RENDU-WEBER SYNDROME 2遺傳性出血性血管擴張症 2

• Hereditary spherocytosis遺傳性球形紅細胞增多症

• Autosomal dominant hypocalcemia常染色體顯性遺傳性低鈣血症

• Hereditary Multiple Exostoses遺傳性多發性外生骨疣

• POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSISPOIKILODERMA，遺傳性纖維化，與肌腱損傷，肌病和肺纖維化

• Hereditary fructose intolerance syndrome    遺傳性果糖不耐症綜合症

• Desmoid disease, hereditary    硬纖維病，遺傳性

• ADRENOCORTICAL CARCINOMA, HEREDITARY腎上腺皮質癌，遺傳性

• Alport Syndrome, X-Linked亞伯氏症候群，X連鎖隱性遺傳

• MENTAL RETARDATION, AUTOSOMAL RECESSIVE 54    精神發育遲滯，常染色體隱性遺傳54

• Alport Syndrome, Autosomal Dominant亞伯氏症候群，常染色體顯性遺傳

• Hereditary Melanoma遺傳性黑色素瘤

• Colorectal cancer, hereditary nonpolyposis, type 1結直腸癌，遺傳性非息肉病，1型

• Neutrophilia, Hereditary中性白血病，遺傳

• Autosomal dominant hypophosphatemic rickets常染色體顯性遺傳性低磷血症性佝僂病

• Thalassemia Intermedia地中海貧血症

• Osteopetrosis, Autosomal Recessive 1骨質疏鬆症，常染色體隱性遺傳1