Rapid detection of aneuploidies of chromosomes 13, 18, 21, Χ and Y (QF-PCR) PrenatalScreen®- analysis of 744 genes with NGS Amniotic fluid conventional karyotype Chorionic Villi conventional karyotype Fetal blood karyotype Prenatal molecular karyotype Thalassaemia β-Thalassaemia and sickle cell anemia δβ-Thalassaemia α-Thalassaemia Cystic fibrosis Most common mutation (F508 del) Targeted detection of parental mutations CFTR full gene analysis Nonsyndromic hearing loss Most common mutation (GJB2:35delG) GJB2 (connexin 26) full gene sequencing Achondroplasia / Hypochondroplasia Achondroplasia – FGFR3 gene G380R mutation Hypochondroplasia – FGFR3 full gene sequencing Fragile Χ syndrome FRAXA gene analysis Spinal Muscular Atrophy Duchenne-Becker muscular atrophy Microdeletion syndromes Other genetic conditions
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