Punctual Variant
Analysis of known genetic or hereditary mutations
Why undergoing this examination?
The term mutation refers to a change in the DNA nucleotide sequence that can result in altered proteins or gene expression. A DNA change can either enhance the organism or lead to genetic disorders, known as pathogenic mutations.
What is the exam?
The Point Mutation test involves the analysis of any genetic alteration previously reported in a family member.
For whom is it indicated?
- 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 a genetic syndrome who want to confirm if they have the same mutation identified in the family.
Technology
Sanger Sequencing
Punctual Variant
Analysis of known genetic or hereditary mutations
The term mutation refers to a change in the DNA nucleotide sequence that can result in altered proteins or gene expression. A DNA change can either enhance the organism or lead to genetic disorders, known as pathogenic mutations.
The Point Mutation test involves the analysis of any genetic alteration previously reported in a family member.
- 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 a genetic syndrome who want to confirm if they have the same mutation identified in the family.
Sanger Sequencing
Advantages
SYNLAB GROUP
Guaranteed by the experience of the absolute European leader in laboratory diagnostics.
COMPLETE
- Complete genetic study of genes related to hereditary gastrointestinal cancer;
- Any pathogenic or uncertain significance variant is confirmed through a new DNA extraction and Sanger sequencing.
Extra Information
DOCUMENTATION – Available on the SYNLAB Direct for clients
- Informed Consent;
- Clinical Questionnaire;
- Family Medical History;
- Medical Request.
PREPARATION
- Fasting is not necessary for the test.
Delivery Time
45 business days
Sample Type
5mL of total blood in EDTA
Other exams oncology:
Prosigna
Breast Cancer Recurrence Risk
ProPSA
Prostate Health Index
Hereditary Cancer Panel
Genetic predisposition to hereditary cancer
Punctual Variant
Analysis of known genetic or hereditary mutations
Guardant 360
Advanced analysis of circulating tumor DNA in the blood
BRCA+16 GENES
Prevention of hereditary
gynecological cancer