- 先天性甲狀腺低能症
- 半乳糖血症
- 葡萄糖-6-磷酸鹽去氫酵素缺乏症(蠶豆症)
- 龐貝氏症
- 法布瑞氏症
- 串聯質譜儀篩檢代謝相關疾病
- 苯酮尿症
- 高胱胺酸尿症
- 蛋白質 (白胺酸Leucine / 異白胺酸Isoleucine / 頡胺酸Valine) 代謝相關疾病
- 楓糖尿症(Maple syrup urine disease) (偵測物質:Leucine/Isoleucine/Valine))
- 高羥輔氨酸血症(Hydroxyprolinemia) (偵測物質:Leucine/Isoleucine)
- 戊二酸血症(Glutaric acidemias;GA)(偵測物質:C5DC-carnitine)
- C5-OH上升相關疾病
- 3-甲基巴豆醯輔酵素羧化酵素缺乏症(3-methylcrotonyl-CoA-carboxylase deficiency, 3-MCC deficiency)
- 3羥基3甲基戊二酸尿症(3-OH-3-methylglutaryl-CoA lyase deficiency,HMG尿症)
- 多發性羧化酶缺乏症(Multiple Carboxylase Deficiency)
- 3甲基戊烯二醯輔酶A水和酶缺乏症(3-Methylglutaconyl-CoA Hydratase Deficiency)
- 蛋白質(有機酸)代謝異常相關疾病
- 丙酸血症(propionic acidemia) (偵測物質:C3-carnitine)
- 甲基丙二酸血症(Methylmalonic acidemia) 偵測物質:(C3-carnitine)
- 短鏈脂肪酸代謝異常相關疾病
- 短鏈脂肪酸去氫酵素缺乏症(Short-Chain acyl-CoA dehydrogenase deficiency)
- Isobutyryl-CoA去氫酶缺乏症(Isobutyryl-CoA dehydrogenase deficiency)
- 戊二酸血症第二型(Multiple acyl-CoA dehydrogenation defect)