Overview Genes (updated January 14th 2022)

Eye diseases Genes
Achromatopsia* < 10 genes
Bardet Biedl syndrome (BBS)* > 20 genes
Best disease BEST1, ELOVL4
Cataract > 100 genes
Choroideremia, tapetoretinal degeneration* CHM / REP-1 / TCD
Coats disease* NDP
Cone rod dystrophies > 30 genes
Congenital stationary night blindness, complete and incomplete form (CSNB) > 10 genes
Erosive vitreoretinopathy (Stickler syndrome, Wagner syndrome) < 10 genes
Exudative vitreoretinopathy (EVR)* < 10 genes
Leber congenital amaurosis (LCA)* > 20 genes
Macular dystrophy* > 10 genes
Malattia leventinese EFEMP1
Norrie Disease (ND), Norrie syndrome* NDP
Optic atrophy > 20 genes
Retinal dystrophy and degeneration (dominant or recessive) > 200 genes
Retinitis pigmentosa (RP), dominant or recessive, autosomal or X-linked* >  90 genes
Rod cone dystrophy > 100 genes
Stargardt disease (STGD), Fundus flavimaculatus* ABCA4
Usher syndrome > 10 genes
Wagner disease, vitreoretinal degeneration* CSPG2 / VCAN / Versican
Heart and vascular diseases, connective tissue disorders Genes
Arrhythmogenic right ventricular cardiomyopathy (ARVC) > 10 genes

Catecholaminergic polymorphic ventricular tachycardia (CPVT)

> 10 genes
Cardiomyopathies , hypertrophic (HCM) and dilative (DCM) > 100 genes
Long QT syndrome (LQTS), Brugada syndrome, mixed phenotypes > 10 genes
Short QT syndrome (SQTS) < 10 genes
Neurologic and neuromuscular diseases Genes
Ataxia > 200 genes
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome RFC1
Charcot-Marie-Tooth disease, hereditary motor and sensory neuropathy (CMT1A, HMSN1A)* PMP22
Charcot-Marie-Tooth disease (CMT)* > 10 genes
Dentatorubral-pallidoluysian atrophy (DRPLA)* ATN1 / DRPLA
Friedreich ataxia (FRDA)* FRDA
Hereditary neuropathy with liability to pressure palsies (HNPP)* PMP22
Huntington disease (HD)* HTT / HD / IT15
Myotonic dystrophy type 1 (Curschmann Steinert, DM1)* DMPK
Myotonic dystrophy type 2 (DM2), proximal myotonic myopathy (PROMM)* ZNF9
Polyneuropathy > 130 genes
Spinal muscular atrophy (SMA, Werdnig-Hoffmann, intermediate type, Kugelberg-Welander)* SMN1, SMN2
Spinobulbar muscular atrophy (SBMA), Kennedy disease* AR
Spinocerebellar ataxia (SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA17)* ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, ATXN8, TBP
Additional genetic tests Genes
Systemic autoinflammatory diseases (e.g. familial fever syndromes and others) < 10 genes, MEFV, MVK, NLRP3, TNFRSF1A a.o.

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

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