Abstract
Biochemical diagnosis of hereditary metabolic diseases requires the detection and simultaneous identification of a large number of compounds, hence the interest in metabolic profiles. Acylcarnitine profile allows the identification and quantification of more than thirty compounds. As part of the accreditation process for medical biology examinations according to standard NF EN ISO 15189, the group from SFEIM recommends an approach to accredit acylcarnitine profile. Validation parameters and recommendations are discussed in this specific framework.
Keywords:
ISO 15189; ISO standard; acylcarnitine profile ;accreditation.
MeSH terms
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Accreditation
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Adult
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Amniocentesis / methods
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Amniocentesis / standards
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Amniotic Fluid / chemistry
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Blood Chemical Analysis / methods
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Blood Chemical Analysis / standards
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Blood Specimen Collection / methods
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Blood Specimen Collection / standards
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Carnitine / analogs & derivatives*
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Carnitine / analysis
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Carnitine / blood
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Carnitine / urine
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Child
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Chromatography, Paper / standards
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Clinical Laboratory Services / standards*
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Diagnostic Tests, Routine / standards*
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Female
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Humans
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Infant, Newborn
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Male
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Metabolism, Inborn Errors / blood
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Metabolism, Inborn Errors / diagnosis*
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Metabolism, Inborn Errors / urine
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Neonatal Screening / methods
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Neonatal Screening / standards
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Pre-Analytical Phase / methods
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Pre-Analytical Phase / standards
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Pregnancy
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Prenatal Diagnosis / methods
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Prenatal Diagnosis / standards
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Urinalysis / methods
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Urinalysis / standards
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Urine Specimen Collection / methods
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Urine Specimen Collection / standards