Medical Genetics & Clinical Genomics Calculators
Medical genetics has rapidly transformed clinical practice from reactive treatment to predictive, precision medicine. Accurately assessing hereditary risk, diagnosing complex syndromic disorders, and applying pharmacogenomic data requires strict adherence to validated algorithms and probability models.
The MedCalc Medical Genetics Hub provides clinical geneticists, oncologists, and genetic counselors with 100% offline access to essential diagnostic criteria and risk-assessment tools. From calculating hereditary breast cancer risk using the Tyrer-Cuzick model to staging Marfan Syndrome via the Revised Ghent Nosology, these tools are rigorously aligned with guidelines from the American College of Medical Genetics and Genomics (ACMG) and the National Comprehensive Cancer Network (NCCN).
Hereditary Cancer Syndromes (Oncogenetics)
🧬 Tyrer-Cuzick Risk Tool
Comprehensive breast cancer lifetime risk assessment model.
🧬 BRCAPRO Probability Tool
Estimate probability of carrying a BRCA1/BRCA2 mutation.
🧬 PREMM5 Probability Score
Predict probability of carrying a Lynch syndrome mutation.
🧬 Amsterdam II Criteria
Diagnostic criteria for HNPCC (Lynch Syndrome).
🧬 Revised Bethesda Guidelines
Guidelines for MSI testing in colorectal cancer screening.
Connective Tissue & Neurocutaneous Disorders
🧬 Revised Ghent Nosology
Revised definitive criteria for Marfan Syndrome diagnosis.
🧬 Schwartz Score Tool
Diagnostic clinical criteria for identifying Marfan Syndrome.
🧬 Beighton Score Calculator
Assess joint hypermobility associated with Ehlers-Danlos.
🧬 NF1 Diagnostic Criteria
Formal diagnostic checklist for Neurofibromatosis type 1.
🧬 TSC Diagnostic Criteria
Tuberous Sclerosis Complex clinical diagnosis scoring.
Cardiovascular Genetics (Cardiogenetics)
🧬 HCM SCD Risk Calculator
Sudden Cardiac Death risk assessment in HCM patients.
🧬 ARVC Task Force Criteria
Arrhythmogenic Right Ventricular Cardiomyopathy criteria.
Pharmacogenetics & Precision Medicine
🧬 Warfarin Pharmacogenetics
Pharmacogenetic-guided dosing model for Warfarin.
🧬 SLCO1B1 Myopathy Risk
Predict statin-induced myopathy risk based on genetics.