Test Directory

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)

Cardiomyopathy, dilated (44 Genes)

Cardiomyopathy, hypertrophic (31 Genes)

Cicardian rhythm variations (22 Genes)

Ehlers-Danlos syndrome, Marfan syndrome, Familial Thoracic Aortic Aneurysm Dissection & Arterial tortuosity syndrome (70 Genes)

This panel analyses key genes associated with heritable connective tissue and aortopathy disorders, including Ehlers-Danlos syndrome, Marfan syndrome, Familial Thoracic Aortic Aneurysm/Dissection, and Arterial Tortuosity Syndrome. Pathogenic variants in these genes can predispose individuals to vascular fragility, arterial aneurysm and dissection, and systemic connective tissue manifestations. Testing supports early diagnosis, risk stratification, and family screening, enabling timely surveillance and management of cardiovascular complications.

Fabry disease

Fabry disease is a rare, inherited lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient activity of the enzyme alpha-galactosidase A. This results in the accumulation of globotriaosylceramide (Gb3) in various tissues, causing progressive multi-organ damage.

Long QT syndrome (17 Genes)

Marfan Syndrome

Panel Under Cardiology