血清游离 carnitin 测定
这个检查测量的是游离 carnitin 的水平，一种帮助将脂肪酸运输到细胞中用于能量生成的化合物。它通常用于评估代谢或遗传性疾病时的相关情况。
["游离 carnitin 有助于细胞利用脂肪生成能量，可能在诊断某些代谢性疾病时非常重要。"]
关键信息一览
- LOINC
- 53095-6
- 简码
- C0FCN
- 别名
- Carnitine Free SFr DBS
- 类别
- 生化
- 样本
- serum
- 采血管
- Whatman 903 filter paper (or equivalent FDA-approved newborn screening filter paper); Dried blood spot (DBS) specimen collection device; Five fully saturated blood spots required; Allow to air-dry horizontally for ≥3 hours at room temperature before transport; Note: LOINC 53095-6 may also be applied to serum/plasma matrices in some laboratory implementations.
- 单位
- N/A
- 参考下限
- 0.7
- 参考上限
- 1
- 危急值范围
- 0.4 N/A – —
- 是否空腹
- 否
- 适用人群
- 成人
- 性别
- all
- 年龄范围
- 0–150 岁
- 检测方法
- Tandem Mass Spectrometry (MS/MS) with stable isotope dilution; flow-injection analysis (FIA-MS/MS)
- CPT
- 82017 (Acylcarnitines; quantitative, each specimen) or 83789 (Carnitine, total and free, quantitative, each specimen) — note: CPT coding for DBS acylcarnitine profiles may be reported under 82017 or specific newborn screening codes; Confirm with local laboratory coding policies.
- SNOMED
- 44778007 |Free carnitine measurement| ; 365666009 |Carnitine measurement| ; 44608003 |Dried blood spot specimen| ; 46662006 |Newborn screening procedure| ; Cross-reference with local laboratory-specific SNOMED CT extensions.
- 标本量
- ≥5 fully saturated blood spots (approximately 50-75 µL blood per spot, totaling 250-375 µL); Each spot should be evenly saturated and fill the pre-printed circle; Minimum total blood volume approximately 100 µL (≥3 spots acceptable for repeat analysis).
- 标本稳定性
- Stable for 7 days at room temperature (20-25°C) on filter paper; Stable for 14 days at 2-8°C; Stable for ≥30 days at -20°C or below; Avoid exposure to heat (>37°C), humidity (>50% relative humidity), and direct sunlight; Specimen integrity may be compromised if improperly dried, exposed to moisture, or stored above recommended temperatures; Transport at ambient temperature in protective mailing envelope; Avoid freeze-thaw cycles after drying.
- 溶血上限
- 500
- 脂血上限
- 1000
- 黄疸上限
- 500
- 报告时间
- 24–168 小时
- 医嘱频率
- routine
可能需要进行此项检查的原因
医生可能会建议进行游离 carnitin 检查，如果您出现疲劳、肌肉无力或其他不明原因的健康问题。它也可能是评估如线粒体疾病、carnitin 不足或中链脂肪酸-CoA 脱氢酶缺乏（MCAD）等代谢性疾病的组成部分。
检查前的准备
通常不需要特殊准备，但可能需要在检查前8–12小时内禁食。请携带您正在服用的任何药物或补剂，因为它们可能会影响结果。
检查过程
从您手臂静脉中抽取血样。过程较快且通常不太痛。样本将通过高效液相色谱法送往实验室进行分析。
结果含义
结果与参考范围进行比较，但具体数值可能因实验室而异。低水平可能表明carnitin 不足或代谢性疾病，而高水平可能表明肌肉分解或某些肝脏疾病。您的医生会结合您的整体健康状况来解释结果。
Reference range
Free carnitine (C0): 20-60 µmol/L (DBS); Total carnitine: 45-95 µmol/L (DBS); C0/Total ratio: >0.70 (ratio interpretation varies by acylcarnitine profile context); Reference values may differ by laboratory and age; consult performing laboratory report.N/A
Fasting is not required, but fasting (2-4 hours) is recommended for optimal interpretation, especially for acylcarnitine profile evaluation in suspected fatty acid oxidation disorders; Avoid exogenous carnitine supplementation for 24-48 hours prior to sampling when investigating primary carnitine deficiency (consult ordering physician); Newborn screening samples are typically collected 24-72 hours after birth via heel stick; Standard DBS sample collection via fingerstick or heelstick following approved procedures; Sample should be completely dried before storage or transport.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
◆Associated findings1
简称
游离 carnitin
常见问题
可能导致结果异常的原因是什么？
我应该多久进行一次此项检查？
饮食或补剂是否会影响此项检查？
本信息仅供教育用途，不能替代专业医疗建议、诊断或治疗。
本内容仅供一般信息和教育用途，不能替代专业医疗建议、诊断或治疗。对于任何医疗问题，请务必咨询合格的医疗服务提供者；切勿因阅读本站内容而忽视专业医疗建议或推迟就医。
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