Hereditary Diseases

Diagnosis of hereditary form of pancreatitis (pathogenic variant c.365G>A (p.Arg122His) in the PRSS1 gene and c.101A>G (p.Asn34Ser) in the SPINK1 gene)

Diagnosis of achondroplasia (pathogenic variants c.1138G>A (p.Gly380Arg) and c.1138G>C (p.Gly380Arg) in the FGFR3 gene)

Diagnosis of Cryopyrin-Associated Periodic Syndromes (NLRP3 gene exon 3)

Molecular genetic diagnosis of hereditary transthyretin amyloidosis (TTR gene)

Diagnosis of hemolytic anemia associated with glucose-6-phosphate dehydrogenase deficiency (G6PD gene)

Targeted gene panel testing for the diagnosis of hereditary arrhythmogenic cardiac disorders

Comprehensive diagnostics of Gilbert syndrome (number of (TA) repeats, c.211G>A (p.Gly71Arg), c.864+28

Targeted gene panel testing for the diagnosis of hereditary cardiomyopathies

Diagnosis of Acute Intermittent Porphyria (HMBS Gene)

Genetic testing for Huntington's disease in the HTT gene