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- GeneScreen® – screening for 700 hereditary diseases
- Thalassaemia
- Cystic fibrosis
- Thrombofilia
- Deafness-Hearing loss
- Non syndromic hearing loss – GJB2 35delG mutation (connexin 26)
- Non syndromic hearing loss – GJB2 (connexin 26) gene sequencing
- Non syndromic hearing loss – GJB6 (connexin 30) deletion analysis and gene sequencing
- Syndromic deafness (Alport, Bartter, Bor, Charge, Jervell/Lange-Nielsen, Mohr-Traenejaerg, Jensen, Ensen, Norrie, Pendred, Stickler, Treacher Collins, Usher, Waardenburg syndromes) – analysis of 39 genes
- Hemophilia
- Achondroplasia / Hypochondroplasia
- Familial Mediterranean Fever
- Familial Hyperchlolesterolemia
- Hemochromatosis (19 mutations in HFE, TFR2, FPN, HJV genes)
- Chromosome Y microdeletions
- Neuromuscular disorders
- Whole Exome Sequencing
- Neurogenetic disorders
- Autism (AutismScreen® – 101 genes)
- Heart diseases
- Polycystic kidney disease
- Spastic paraplegia
- Retinopathies
- Mitochondrial diseases
- Mitochondrial encephalopathy and Leigh syndrome
- GeneScreen® – screening for 700 hereditary diseases
- Stargardt disease
- Other genetic diseases