We offer Cofrac (ISO15189) accredited genetic diagnostic testis for
– Diabetes ( gene panel diabetes ) *
– Obesity ( gene panel obesity ) *
– Dyslipidemia ( gene panel dyslipidemia ) *
It is possible to carry out a complementary examination on other associated pathology(ies), outside of accreditation. The associated pathologies and their gene panels outside accreditation are described below:
– Other associated complications :
- Hypersinsulinism
- Lipodystrophy / Insulin Resistance
- Polycystic Ovary Syndrome
- Renal disease
- Neurodevelopmental disorders
- Heart disease
- Hepatic disease
- Stroke
- Pancreatitis
- Hypogonadism Syndrome
- Lymphoedema
*: Accredited examinations, scope available under n° 8-4219 on the COFRAC website https://www.cofrac.fr/
Two methods are possible:
– Search for genetic cause(s) via whole exome sequencing (high-throughput sequencing) with a focus on the identified gene panel(s).
(Identification of coding point mutations [including small insertions/deletions] and splicing mutations).
-Search for genetic cause(s) via Sanger sequencing targeting a locus defined by the prescriber.
Indicate the reference gene(s) (NM_ or LRG) to be analysed and the substitutions or small deletions or insertions to be analysed in the reference gene(s) (according to the HGVS nomenclature) on the test request form.
In order to get to know our diagnostic analysis offers better, you will find below all the documents necessary to carry out an analysis. For any request for an examination, please follow the sampling manual.
– Examination request form (to be completed for all applications for review)
– Clinical information survey : (please fill in the questionnaire corresponding to the examination requested)
• Diabetes
• Obesity
– Consultation and consent form (to be completed for all applications for review)
– Oragene sampling data sheet (for saliva samples)
In case of difficulty, please contact Dr Pascale Benlian (pascale.benlian@inserm.fr; +33 (0)3 74 00 80 44), Dr Amélie Bonnefond (amelie.bonnefond@cnrs.fr; +33 (0)3 74 00 81 18) or Dr Martine Vaxillaire (martine.vaxillaire@cnrs.fr; +33 (0)3 74 00 81 03).