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Test Guide: Genetics

Access the Eurofins Biomnis test guide dedicated to Genetics

The spectacular advances in molecular biology have led to the localisation and identification of numerous genes involved in genetic pathologies. The use of molecular biology methods as diagnostic tools enabled the characterisation of symptomatic subjects, as well as the screening of disease carriers and healthy carrier subjects (vectors) for certain genetic diseases. This approach contributed significantly to the development of efficient preventive actions, patient care, or management of some of these diseases.

The Human Genetics department possesses laboratories specifically designed for DNA analysis. These methods are derived from PCR (Polymerase Chain Reaction). The diagnostic strategies rely on different methods, depending on the type of gene investigated: PCR-RFLP, PCR-ASA, PCR-SSO, methylation-specific PCR, the study of microsatellite markers, sequencing, Luminex technology®, LineProbe assay® and/or Southern blot®.

Furthermore, Eurofins Biomnis Laboratories utilises cutting-edge technologies, namely SNP (Single Nucleotide Polymorphism) array or DNA chips and NGS (Next Generation Sequencing) or high-throughput sequencing, which pioneered major breakthroughs in this field of research. Comparative genomic hybridisation (CGH) array, or SNP array, performs an overall genome analysis to detect any imbalance in genetic material between the patient and a control sample. This assay determines the CNV (Copy Number Variation) responsible for genetic pathologies. The SNP array technique provides additional information on the Loss of Heterozygosity (LOH), meaning the loss of genetic material originating from one of the parents. Both techniques are applicable to constitutional pathologies.

Pre and post-natal constitutional genetics

As most requests originate from a CPDPN (Centre Pluridisciplinaire de Diagnostic Prénatal; Multidisciplinary Centre for Prenatal Diagnosis), we propose an investigation of the Fragile X syndrome, cystic fibrosis, uniparental disomies of chromosomes 14 and 15, or SNP array analysis in response to ultrasound findings.

Post-natal evaluations may require SNP array analysis to obtain the genetic profile of developmental delay in children: chromosomal microarray (CMA) analysis to detect small imbalance chromosomal anomalies not visible on a standard karyotype.

In the context of infertility, we may add investigations of cystic fibrosis and microdeletions of chromosome Y to the standard prescription of a karyotype.

The Fragile X syndrome is investigated in cases of mental retardation or ovarian failure.

Required Documents for Prenatal Constitutional Genetics

B3-INTGB : Antenatal diagnostics request form

D31-INTGB – Information and consent for pregnant women

Required documents for Postnatal Constitutional Genetics

B12-INTGB – Constitutional molecular genetics request form

R23-INTGB – Cystic fibrosis gene analysis (CFTR gene)

D43-INTGB – Declaration of medical consultation and patient consent form for genetic testing.

R36-INTGB – Familial Mediterranean Fever gene study

Our scientific resources

Genetics related to haematology and immunochemistry

Several areas of haematology are explored using techniques of molecular genetics.

Haemostasis represents the study of constitutional risk factors of venous thrombosis: the Factor V Leiden mutation, the Factor II mutation (prothrombin 20210 mutation), and mutations in the gene expressing methylenetetrahydrofolate reductase (MTHFR). The most common iron overload syndrome, Type 1 haemochromatosis, is diagnosed based on the predominant C282Y mutation, and the minor H63D and S65C mutations, of the HFE gene. The different types of human leukocyte antigens (HLA) are considered risk factors of several diseases. Thus, HLA typing is a standard technique, and the most common associations investigated for HLA class I alleles are HLA B27/ankylosing spondylitis, HLA A29/birdshot retinopathy, HLA B51/Behcet’s disease, HLA B57:01/abacavir hypersensitivity. For class II HLA alleles, the most common associations are HLA DQ2 and DQ8/coeliac disease.

The SERPINA1 gene expressing alpha-1-antrypsin is investigated to identify the S and Z mutations because the genotypes ZZ and SZ are responsible for the low protein concentrations associated with emphysema or liver disease.


This department devotes part of their activities to the investigation of hypersensitivity or resistance to antivitamins K (study of CYP2C9 and VKORC1 genotypes), as well as thienopyridine response variability. The analysis of CYP2C19 polymorphisms is used to adjust the dose of clopidogrel in order to optimise the level of platelet inhibition and to predict the risk of bleeding if this drug is replaced with prasugrel.

On the other hand, this department has developed an assessment method for the risk of fluoropyrimidine toxicity using a multiparametric approach (5FU ODPM TOX). This test evaluates the risk of fluoropyrimidine toxicity and determines the dose of fluoropyrimidine to administer during the first round of chemotherapy. This approach requires a gene mutation analysis of dihydropyrimidine dehydrogenase (DPYD), uracil (U) and dihydrouracil (UH2) assays, and the physiopathological parameters of the patient. In addition, we suggest that the level of 5-fluorouracil (5-FU ODPM Protocol) should be assayed during the treatment for dosage optimisation.

Our pathologists are members of the ANPGM (Association Nationale des Praticiens de Génétique Moléculaire; National Association of Practitioners in Molecular Genetics) and the French Association for Cystic Fibrosis in Molecular Genetics Laboratories (Réseau Français sur la Mucoviscidose des Laboratoires de Génétique Moléculaire).

Required documents for Pharmacogenetics

K23-24B-INTGB – Evaluation of the toxicity risk of fluoropyrimidines and determination of 5-fluorouracil

D23-INTGB – Declaration of consultation and consent for testing of an individual’s genetic characteristics

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