Overview Diseases (updated January 14th 2022)

Eye diseases

Achromatopsia*
Bardet Biedl syndrome (BBS)*
Best disease*
Cataract
Choroideremia, tapetoretinal degeneration, retinal/choroidal dystrophy*
Coats disease*
Cone rod dystrophies*
Congenital stationary night blindness, complete and incomplete form (CSNB)
Erosive vitreoretinopathies (Stickler syndrome, Wagner syndrome)
Exudative vitreoretinopathy (EVR)*
Leber congenital amaurosis (LCA)*
Macular dystrophy*
Malattia leventinese*
Norrie disease (ND)*
Optic atrophy
Retinal dystrophy and degeneration (dominant or recessive)*
Retinitis pigmentosa (RP), dominant or recessive, autosomal or X-linked*
Rod cone dystrophies*
Stargardt disease (STGD), Fundus flavimaculatus*
Usher syndrome*
Wagner disease, vitreoretinal degeneration*

Heart and vascular diseases

Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Cardiomyopathies, hypertrophic (HCM) and dilated (DCM)
Catecholaminergic polymorphic ventricular tachycardia (CPVT)
Long QT syndrome (LQTS), Brugada syndrome, mixed phenotypes
Short QT syndrome (SQTS)

Neurologic and neuromuscular diseases

Ataxias
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS)
Charcot-Marie-Tooth disease, hereditary motor and sensory neuropathy (CMT1A, HMSN1A)*
Dentatorubral-pallidoluysian atrophy (DRPLA)*
Friedreich ataxia (FRDA)*
Hereditary neuropathy with liability to pressure palsies (HNPP)*
Huntington disease (HD)*
Myotonic dystrophy type 1 (Curschmann Steinert, DM1)*
Myotonic dystrophy type 2 (DM2), proximal myotonic myopathy (PROMM)*
Polyneuropathies
Spinal muscular atrophy (SMA, Werdnig-Hoffmann, intermediate type, Kugelberg-Welander)*
Spinobulbar muscular atrophy (SBMA), Kennedy disease*
Spinocerebellar ataxias (SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA17)*

Additional genetic tests

Systemic autoinflammatory diseases (SAIDs, e.g. familial fever syndromes and others)

Polar body diagnosis (PBD) and preimplantation genetic diagnoses (PID, PGT-M & PGT-A) for selected diseases 

Notes:
*These tests must be covered or reimbursed by the health insurance companies according to the ´Federal List of Ananlyses´