Test Directory

Lissencephaly (23 Genes)

Lysosomal acid lipase deficiency

MD-Steriod Sulfatase (Xp22.3)

Moebius syndrome (2 Genes)

RIDDLE syndrome and other radiosensitivities with immunodeficiency [incl. Nijmegen breakage syndrome, ataxia-telengectasia, severe combined immunodeficiency with Cernunnos, severe combined immunodeficiency Athabascan type, Immunodeficiency 26, LIG4 syndro

Rubinstein-Taybi syndrome (2 Genes)

Tuberous sclerosis (2 Genes)

Ullrich muscular dystrophy (3 Genes)

Urea cycle and hyperammonemia disorders (44 Genes)

Usher syndrome type I, II, III and its differential diagnosis (14 Genes)

Vitelliform macular dystrophy, other macular dystrophies and their differential diagnosis, basic (13 Genes)

Vitelliform macular dystrophy, other macular dystrophies and their differential diagnosis, extended, incl. cone and cone-rode dystrophies (42 Genes)

Vitreoretinopathy and Wagner syndrome (6 Genes)

Waardenburg syndrome (7 Genes)

Walker-Warburg syndrome (6 Genes)

Arrhythmia, hereditary (33 Genes)

Arrhythmogenic right ventricular cardiomyopathy (12 Genes)

Brugada syndrome (9 Genes)

Cardiomyopathy, dilated (44 Genes)

Cardiomyopathy, hypertrophic (31 Genes)

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiomyopathy, affecting ~1 in 500 individuals worldwide. It is characterised by unexplained left ventricular hypertrophy with risks of heart failure, arrhythmias, and sudden cardiac death. HCM is primarily inherited in an autosomal dominant pattern, with >50% of cases having an identifiable genetic cause. Our 31-gene HCM panel analyses sarcomeric and sarcomere-associated genes, as well as genes for metabolic and infiltrative disorders that can mimic HCM, supporting accurate diagnosis, risk stratification, and family screening.