Lab tests

DPYD Genotyping for Chemotherapy Toxicity Assessment (DPYD*2A (c.1905+1G>A), DPYD *13 (c.1679T>G; p.Ile560Ser), c.2846A>T (p.Asp949Val) and HapB3 (c.1129–5923C>G)

Molecular genetic diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)

Diagnostics of hereditary prostate cancer (pathogenic variant c.251G>A (p.Gly84Glu) in the HOXB13 gene)

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)

Lacto-screen: detection and quantification

Extended diagnosis of lactase deficiency (MCM6 c.-13907 C>G, c.-13910 C>T, c.-13915 T>G, c.-14010 G>C)

Helicobacter pylori, DNA [real-time PCR]

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)