Clinical Genetics
- Diagnosis of rare genetic diseases
- Neurodevelopmental disorders (autism, developmental delay, epileptic encephalopathies)
- Congenital anomalies and syndromic diseases
- Genetic evaluation of metabolic and inherited disorders
- Investigation of familial diseases
Prenatal Genetics
- Prenatal genetic counseling
- Interpretation of non-invasive prenatal testing (NIPT)
- Evaluation of amniocentesis and chorionic villus sampling results
- Genetic analysis of fetal ultrasonographic anomalies
- Genetic investigation of recurrent pregnancy loss
Oncogenetics
- Evaluation of hereditary cancer syndromes
- Germline and somatic variant analysis
- Cancer gene panels
- Liquid biopsy and tumor genomic analyses
- Molecular genetic evaluation for targeted therapies
Molecular Genetics and Genomics
- Next-generation sequencing (NGS) analyses
- Whole exome sequencing (WES)
- Whole genome sequencing (WGS)
- Copy number variants (CNV) and structural variant analyses
- Variant interpretation (ACMG criteria) and clinical correlation
Cytogenetics
- Karyotype analysis
- FISH analyses
- Microarray (aCGH / SNP array)
- Evaluation of chromosomal abnormalities