Genetics

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

Assessment of the effect of CYP2D6 and CYP2C19 on the metabolism of tricyclic antidepressants – amitriptyline, nortriptyline, desipramine, doxepin, imipramine, trimipramine

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

Diagnosis of Birdshot chorioretinopathy (HLA-A29 gene)

Molecular genetic diagnosis of hereditary transthyretin amyloidosis (TTR gene)

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

Pharmacogenetics of adverse effects of allopurinol therapy (HLA-B*58:01 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