Medical genetics
Genetic counselling and indication-based testing for inherited disease, with consent and explanation of implications for relatives.
Treatments in this specialty
Procedure guides
Times are planning guides, not national averages or guaranteed schedules. They reflect published provider examples and patient guidance. The treating team confirms the individual plan, time needed near the clinic and fitness to travel. Waiting lists are not included.
Clinical genetic counselling
Family history, consent and result interpretation.
- Time
- Consultation length and laboratory turnaround depend on the question and test.
- Appointments
- Initial review + tests or follow-up as needed
Can’t find your treatment?
Tell us the specialty or service you need. We can clarify the next coordination step.
Clinical terms
Use these clinical terms when discussing a referral or looking for a provider. Focused care areas may sit within a broader medical specialty.
- Medical genetics
- HumangenetikGermanLékařská genetikaCzech
Treatments & services
Explore specific procedures, investigations and care services. The clinical team confirms which options fit the individual case.
Clinical genetic counselling
Family history, consent and result interpretation.
Karyotyping
Analysis of chromosome number and structure.
Chromosomal microarray
Detection of selected copy-number changes.
Targeted single-gene testing
Analysis of a suspected inherited disorder.
Multigene panel testing
Analysis of genes linked to a clinical presentation.
Clinical exome sequencing
Assessment of protein-coding regions.
Familial variant testing
Testing a known family mutation.
Carrier testing
Assessment of reproductive risk for inherited disease.
Hereditary breast and ovarian cancer testing
Indicated predisposition analysis.
Lynch syndrome testing
Hereditary colorectal cancer evaluation.
Inherited cardiomyopathy testing
Genetic assessment of heart-muscle disease.
Inherited arrhythmia testing
Selected cardiac channelopathy investigation.
Neurogenetic testing
Investigation of suspected inherited neurological disease.
Neuromuscular genetic testing
Assessment of inherited nerve or muscle disease.
CFTR testing
Cystic fibrosis or carrier investigation.
Heritable connective-tissue disorder testing
Phenotype-directed genetic analysis.
Inherited metabolic disease testing
Biochemical and molecular investigation.
Non-invasive prenatal testing (NIPT)
Screening, not a diagnostic confirmation.
Amniocentesis
Prenatal diagnostic sampling of amniotic fluid.
Chorionic villus sampling
Prenatal placental-tissue sampling.
Can’t find your treatment?
Tell us the specialty or service you need. We can clarify the next coordination step.
Planning your care
Ask the treating service for a written plan. Appointment numbers and time away depend on the procedure, results and individual needs.
- Which clinical question should the consultation or test answer, and which existing reports can be reviewed first?
- Are preparation, contrast, sedation or a separate results appointment required? Ask the service for individual instructions.
- When will results be available, who will explain them and can follow-up take place remotely?
Sources & availability
These references provide clinical background. The guide is not a confirmed service menu for every centre or both countries, and cited organisations are not necessarily RAUQ partners. Confirm eligibility, availability and international patient access with the centre.
Guide content and sources checked 29 October 2026.