1. [Recommendations for acylcarnitine profile analysis]
- Author
-
Laetitia Van Noolen, Anne-Frédérique Dessein, Cécile Acquaviva-Bourdain, Marie Nowoczyn, Régine Minet-Quinard, Roselyne Garnotel, and Christelle Corne
- Subjects
Adult ,Male ,medicine.medical_specialty ,Chromatography, Paper ,Pre-Analytical Phase ,Biochemical diagnosis ,Iso standards ,Urinalysis ,Accreditation ,Medical biology ,Neonatal Screening ,Pregnancy ,Carnitine ,Prenatal Diagnosis ,Medicine ,Humans ,Profile analysis ,Medical physics ,Child ,Urine Specimen Collection ,Blood Specimen Collection ,business.industry ,Diagnostic Tests, Routine ,Infant, Newborn ,General Medicine ,Clinical Laboratory Services ,Amniotic Fluid ,Amniocentesis ,Identification (biology) ,Female ,business ,Blood Chemical Analysis ,Metabolism, Inborn Errors - 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.
- Published
- 2020