Biochemistry

The biochemistry department carries out both emergency and routine biochemistry analyzes for hospitalized and outpatient hospital patients, as well as for external laboratories. It also offers a panel of specialized biochemical analyzes for which it is the referent in Normandy.

Routine and emergency activities

The general biochemistry sector provides emergency services 24 hours a day, 7 days a week. Routine parameters represent almost 90% of our activity and are essentially dosed on an automated platform : PURR ABC :

• Blood gas
• Colorimetric techniques, potentiometry: ionograms, renal and hepatic functions, lipids, etc.
• Immuno-enzymatic techniques: cardiac markers, tumor markers, hormonology, etc.
• Nephelometric techniques: inflammatory proteins, undernutrition markers, apolipoproteins, etc.
• Electrophoresis: serum and urinary proteins in capillary technique, lipidogram on gel,
• Glycated hemoglobin by HPLC technique

Delocalized biology

This involves carrying out analyzes as close as possible to the patient while maintaining the integration of data in the biological file: blood gases, cardiac troponin.

The analyzes of this sector are carried out mainly at the separating platform .

Vitamins and trace elements:

• study of nutritional deficiencies:
  • trace elements by ICP-MS technique: selenium, zinc, iodine, etc.
  • water- and fat-soluble vitamins by liquid chromatography techniques HPLC, HPLC- MSMS (B1, B6, C, PP, A, E, K) or immunoanalysis (D, B9 and B12).
• determination of toxic metals by ICP-MS
• study of copper pathologies: serum, urinary and hepatic copper, ceruloplasmin.

Catecholamines and their metabolites; serotonin metabolite:

• Adrenaline, noradrenaline, dopamine, metanephrines, vanyl-mandelic acid, hormovanilic acid, 5-hydroxy-indole-acetic acid: HPLC-MSMS technique

The analyzes of this sector are carried out on the specialized biology platform or on the separation platform.

Endocrine pathologies:

• Automated immunoassay techniques: GH and IGF1, ostase (bone alkaline phosphatase) , renin, 1-25 OH vit D, chromogranin.
• RIA technique (approval for the use of radioactive isotopes for in vitro diagnosis) : T3L, anti-TSH receptor (TSI) , peptide C, free hCG β subunit, ultra-sensitive estradiol, histamine.
• Follow-up on blotter of congenital hypothyroidism up to the age of 2 years.
• LC MS/MS: steroid profile (aldosterone, testosterone, 17-hydroxyprogesterone, delta 4-androstenedione, DHEA sulphate, 11-desoxicortisol) .

Fetal biochemistry:

• Search for the presence of acetylcholine esterase in amniotic fluid by electrophoresis.
• Study of digestive enzymes in amniotic fluid.
• Renal function markers (β2 microglobulin on fetal and maternal blood) .
• Nominative approval of biologists ( Dr Frédérique Grandhomme and Pr Stéphane Allouche ).

Neurological diseases:

• Dosage of serum anti-ganglioside antibodies in multifocal motor neuropathies by ELISA (anti-GM1, GD1a, GD1b, GM2, GT1b and GQ1b) .
• Assays in the cerebrospinal fluid of the markers of Alzheimer's disease (tau, phospho-tau, beta-amyloid protein) by immunoanalysis in chemiluminescence.
• Search for oligoclonal bands in the cerebrospinal fluid for the diagnosis of multiple sclerosis by IEF.
• Quantification of the converting enzyme in the CSF (neurosarcoidosis) by spectrofluorimetry.

The analyzes of this sector are carried out on the genomics , separative and specialized biology platform.

Hereditary metabolic diseases

Dosages practiced:

• Blood: metabolic explorations: REDOX balance (ammonium, lactic acid, pyruvic acid, beta-hydroxybutyric acid, acetoacetic acid, free fatty acids) , amino acids, phenylalanine, total homocysteine, leucine, 7-dehydrocholesterol, acylcarnitines, carnitine, 25OH- ratio vitamin D3/24.25 (OH) 2-vitamin D3.
• Urine: metabolic explorations: amino acids, organic acids, orotic acid, mevalonic acid, cystine.
• LCR: lactic acid, pyruvic acid, amino acids.

Techniques :

Liquid or gas chromatography, colorimetry and detection mass spectrometry (CG-MS and LC MS/MS) .

Mitochondrial diseases

Dosages practiced:

• Blood: Coenzyme Q10 assay, sequencing.
• Muscle: assay of Coenzyme Q10, assay of respiratory chain complexes, search for deletions/depletion of mitochondrial DNA, sequencing.
• Fibroblasts: assay of Coenzyme Q10, assay of respiratory chain complexes, mitochondrial respiration (oxygraphy), sequencing.
• Urine: sequencing.

Techniques :

Liquid chromatography and detection mass spectrometry (LC MS/MS) , spectrophotometric assays, culture of skin fibroblasts, oxygraphic analyses, Sanger sequencing, high-throughput sequencing ( DNA and exome) , PCR , Southern-blot, PCR / long- PCR .

The analyzes of this sector are carried out on the separation and specialized biology .

Prenatal screening for trisomy 21

• Assessment of the risk of fetal trisomy 21 using maternal serum markers (1st ^and 2nd ^trimester ) .
• The service holds an authorization issued by the ARS for the assessment of the risk of fetal trisomy 21 using maternal serum markers.
• Nominative approval of biologists ( Dr Anne Chocat , Dr Geneviève Lubac and Dr David Guénet ).

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Newborn screening

The biochemistry department is part of the Regional Center for Neonatal Screening , which aims to detect and treat 12 serious newborn illnesses at an early stage.

In practice, it is a national health program; it consists of taking drops of blood deposited on a blotter, via a prick in the child's heel. It is most often carried out in the maternity ward and after parental consent. It is free and is carried out at the earliest at 48 hours of life, ideally at 72 hours.

The blotters are sent every day directly or by post to the neonatal screening reference laboratory of the CRDN . The dosage is carried out in a very short time, which allows the child to be summoned quickly in order to make a definitive diagnosis and to set up the appropriate treatment in the event of an abnormal result.

Because there are management solutions, early detection is a real benefit for patients.

The national neonatal screening program is aimed at all newborns born in France. It aims to identify certain diseases as early as possible, even before the signs appear. Currently, this program concerns 13 diseases:

• phenylketonuria (assay of phenylalanine) : genetic disease linked to a deficiency of an enzyme which, in the absence of treatment, leads to mental retardation. With a specific diet from the first weeks of life which will be continued for life, the child's development will be normal.
• congenital hypothyroidism (TSH assay) : insufficient secretion of thyroid hormones by the thyroid gland which can lead to mental retardation and growth retardation. Treatment with thyroid hormone will allow the child to develop normally.
• congenital adrenal hyperplasia (17 OHP assay) : genetic disease characterized by excessive development of the adrenal glands which do not function normally; this can lead to severe dehydration and impaired growth and genital development. A hormonal treatment adapted from the neonatal period, will allow to face these disorders and to avoid the consequences.
• sickle cell disease (hemoglobin electrophoresis) : genetic blood disease that affects red blood cells (red blood cells) and more specifically hemoglobin; this disease is more present in certain regions; these sickle-shaped red blood cells will have difficulty circulating in the blood, causing painful crises or difficulties in the vascularization of certain organs.
• cystic fibrosis (assay of immunoreactive trypsin) : hereditary genetic disease which mainly affects the respiratory tract and the digestive system. The medical care of the child must be adapted in order to reduce the progression of the disease. Sick children are cared for in the Resource and Competence Center for Cystic Fibrosis .
• MCAD deficiency (Medium-Chain-Acyl-CoA Dehydrogenase; C8 assay) : hereditary disease which causes the body to have difficulty using fat as an energy source. Without treatment, the consequences can be serious when the child's energy needs exceed what his body manages to produce.
• Seven inborn errors of metabolism (homocystinuria , leucinosis, tyrosinemia type glutaric aciduria type isovaleric aciduria, deficiency in 3 hydroxyacyl-coenzyme A dehydrogenase of long chain fatty acids, primary carnitine deficiency) which are all genetic diseases which can have serious consequences for the body and whose treatment is essentially based on dietary measures.

Carrying out these screenings therefore makes it possible to know very quickly and almost exhaustively the babies affected by one of these 12 diseases and to set up an effective treatment at a pre-symptomatic stage.

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