Directory of Services

Multi-Gene Panels

Cardiomyopathies - entire panel ID 88.02 Cardiomyopathy in the context of neuromuscular disease ID 35.01 Cardiomyopathy, dilated ID 73.02 Cardiomyopathy, dilated - basis diagnostics ID 177.00 Cardiomyopathy, hypertrophic ID 72.02 Cardiomyopathy, hypertrophic - basis diagnostics ID 176.00 Cardiomyopathy, infancy ID 110.01 Cardiomyopathy, mitochondrial ID 74.01 Cataract ID 120.01 Cataract - core panel ID 168.00 Catecholaminergic polymorphic ventricular tachycardia (CPVT) - basis diagnostics ID 180.00 Catecholaminergic polymorphic ventricular tachycardia (CPVT) / Arrhythmogenic right ventricular dysplasia (ARVD) ID 133.01 Cholestasis / Parenchymal liver damages ID 189.00 Chorea, choreiform movement disorders ID 232.00 Chronic progressive external ophthalmoplegia (CPEO) and phenocopies ID 255.00 Chronic progressive external ophthalmoplegia (CPEO), autosomal dominant ID 253.01 Chronic progressive external ophthalmoplegia (CPEO), autosomal recessive ID 254.00 Citrullinemia ID 190.00 Clinical Exome ID 112.03 Coffin-Siris and Nicolaides-Baraitser syndrome (CSS, NCBRS) ID 158.00 Cohesinopathies (Cornelia de Lange syndrome) ID 157.01 Collagen Type IV-Associated Disorders and Phenocopies ID 129.00 Colorectal Cancer ID 358.00 Colorectal Cancer - Basic Diagnostic Test ID 365.00 Congenital anomalies of the kidney and urinary tract (CAKUT) ID 209.00 Congenital disorders of glycosylation (CDG) ID 162.00 congenital glaucoma ID 171.00 Congenital heart disease, entire panel ID 185.00 Congenital heart disease, isolated ID 184.00 Congenital heart disease, isolated - basis diagnostics ID 183.00 Congenital heart disease, syndromal ID 182.00 Congenital myasthenic syndrome (CMS) ID 33.02 Congenital myasthenic syndrome (CMS) - basis diagnostics ID 246.00 CoQ10 deficiency ID 54.02 Corneal dystrophies ID 172.00
Macrocephaly ID 156.02 Macrocephaly - basis diagnostics ID 272.01 Malignant hyperthermia susceptibility ID 76.00 Marfan syndrome - basis diagnostics ID 174.00 Maturity-onset diabetes of the young (MODY) ID 213.00 Metabolic dysmorphic syndromes ID 273.00 Metabolic myopathy - core panel, 10 genes ID 256.00 Metabolic myopathy and rhabdomyolysis, 30 genes ID 25.02 Methylmalonic acidemia ID 278.00 Microphthalmia-Anophthalmia-Coloboma complex (MAC) ID 119.01 Microphthalmia-Anophthalmia-Coloboma complex (MAC) - basis diagnostics ID 167.00 Mitochondrial anemia ID 68.01 Mitochondrial disorders - comprehensive panel, 243 genes ID 87.03 Mitochondrial hepato(enzephalomyelo)pathy - basis diagnostics ID 264.00 Mitochondrial hepato(enzephalomyelo)pathy and phenocopies ID 53.02 Mitochondrial myopathy ID 69.02 Molybdenum cofactor deficiency ID 279.00 Muscle disease with contractures and/or rigid spine ID 43.01 Muscle weakness (myopathy, muscular dystrophy) - comprehensive panel ID 89.03 Muscle weakness, adult-onset , 105 genes ID 45.02 Muscle weakness, early-onset, 128 genes ID 37.02 Muscular dystrophy, congenital merosin-deficient ID 250.00 Muscular dystrophy, congenital, 29 genes ID 251.00 Muscular dystrophy, congenital, collagen-associated (Bethlem/Ullrich and phenocopies) ID 32.01 Muscular dystrophy, congenital, collagen6-associated (Bethlem/Ullrich) ID 249.00 Muscular dystrophy, congenital, dystroglycanopathy ID 31.02 Muscular dystrophy, Emery-Dreifuss ID 22.00 Muscular dystrophy, limb-girdle - core panel ID 248.00 Muscular dystrophy, limb-girdle - non DMD associated ID 247.00 Myopathy, congenital - fetal core genes ID 294.00 Myopathy, congenital - nemaline / core / centronuclear ID 26.03 Myotonia ID 75.02 Myotonia - basis diagnostics ID 244.00