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代谢出生缺陷会导致身体问题，智力低下以及在某些情况下死亡。，如果发现并尽早检测到这些情况，最好是婴儿和家庭。Synlab of for扩展的代谢筛查，可以确认或排除新生婴儿（32个疾病）和老年儿童（27个疾病）的疾病。The development of a new screening technique known as tandem mass spectrometry (often abbreviated as MS/MS) can detect the blood components that are elevated in certain disorders, and is capable of screening for inherited metabolic disorders with a single test such as sickle cell anaemia, G6PD, cystic fibrosis, hypothyroidism, biotinidase deficiency, galactosaemia, Adreno生殖综合征（AGS），苯基酮尿症（PKU），枫糖浆尿液疾病（MSUD），同胞肠炎，
常规新生儿筛查
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