Simple Point Mutation
Analysis of any known genetic or hereditary mutation
The term mutation refers to changes in genetic material, which is the main source of genetic variation. A change in DNA can provide an improvement in the body or trigger genetic diseases that are known as pathogenic mutations. The earlyknowledge of a pathogenic mutation helps patients and their families to make fundamental decisions regarding future preventive strategies or to the clarification of a pathology.
From a sample of DNA obtained from the patient’s blood, any genetic changes reported in the family are evaluated through the genetic sequencing technique.
• Individuals with a family history of hereditary cancer who want to confirm if they have the same mutation identified in the family.
• Patients with a family history of genetic syndrome who want to confirm if they present the same mutation identified in the family.
• Guaranteed from the experience of the Synlab group, the absolute European leader in laboratory diagnosis.
• It uses the Sanger sequencing method that guarantees 100% coverage of all DNA-readable bases.
• Any pathogenic mutation or mutation of uncertain significance is confirmed from a new DNA extraction.
• Genetic counselling in cases which are necessary to assess the implications of the outcome for the patient and his/her relatives.
DOCUMENTATION – Available on Extranet for clients:
• Informed Consent.
• Clinical Questionnaire.
• Fasting is not necessary for the test.