• 46,XX Disorders of Sexual Development, NGS panel
• 46,XY Disorders of Sexual Development, NGS panel

• Myeloid, atypical chronic myelogenic leukemia, chronic neutrophilic leukemia, NGS panel
• Obesity, NGS panel
• Congenital adrenal hyperplasia, NGS panel
• Oculocutaneous Albinism, NGS panel
• AML / Myeloid, acute myeloid leukemia - prognostic panel 1, NGS
• AML / Myeloid, acute myeloid leukemia - panel 2 other therapeutic options, NGA panel
• AML / Myeloid, acute myeloid leukemia - panel 3 sensitive for sAML and prognostic, NGS panel
• Amyotrophic lateral sclerosis / ALS , NGS panel
• Angelman syndrome, Happy Puppet syndrome
• Arrhythmogenic right ventricular cardiomyopathy (ARVD), NGS panel
• Ataxia with oculomotor apraxia, NGS panel
• ataxia, episodic / EA, NGS panel
• Spinocerebellar Ataxia, autosomal recessive / SCAR - NGS panel
• Autism spectrum disorder / ASD, NGS panel

• Lymphoid, chronic lymphocytic leukemia, prognostic NGS panel
• Bardet-Biedl syndrome, NGS panel
• Bartter syndrome / Gitelman syndrome, NGS panel
• Basalioma, hereditary - NGS panel
• Beckwith-Wiedemann syndrome / BWS - NGS panel
• Benign familial neonatal seizures (BFNS), NGS panel
• Bethlem myopathy, NGS panel
• Breast and ovarian cancer, hereditary - NGS panel

• Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, NGS panel
• Carrier-Screening (as part of family planning)
• Myeloid, chronic myelomonocytic leukemia: core panel diagnostic and prognostic, NGS
• Cornelia de Lange syndrome / CDLS, NGS panel

• Dilated cardiomyopathy /DCM, NGS panel
• Early infantile epileptic encephalopathy, severe myoclonic epilepsy of infancy, Dravet syndrome - NGS panel
• Dyskinesia, primary ciliary / PCD - NGS panel
• Dystonia, NGS panel

• Ehlers-Danlos syndrome, NGS panel
• Endometrial cancer, hereditary - NGS panel
• Neurodevelopmental delay / NDD - NGS panel
• Epilepsy, NGS panel

• Fever syndrome, hereditary - NGS panel
• Fraser syndrome, NGS panel
• Early infantile epileptic encephalopathy / EIEE - NGS panel

• Flecked retina syndromes - NGS panel
• Whole Exome Sequencing (WES)
• Primary open angle glaucoma (POAG), adult onset - NGS panel
• Primary open angle glaucoma (POAG) juvenile onset - NGS panel
• Glycine encephalopathy - NGS panel
• Glycogen storage disease / GSD, NGS panel
• Congenital disorder of glycosylation / CDG - NGS panel
• Overgrowth syndromes, NGS panel

• Hemochromatosis, hereditary (NGS panel)
• Hand foot genital syndrome, NGS panel
• Congenital urea cycle defects - NGS panel
• Hermansky-Pudlak syndrome /HPS, NGS panel
• Heart defects, congenital - NGS panel
• Hypercholesterolemia, familial (FH) / Sitosterolemia (extended hypercholesterolemia panel)
• Hypercholesterolemia, familial (FH), frequent types - NGS panel
• Cardiomyopathy, familial hypertrophic, NGS panel
• Hypogonadotropic Hypogonadism, NGS panel
• Pituitary hormone deficiency, hypopituitarism, panhypopituitarism - NGS panel

• Joubert syndrome, NGS panel

• Kabuki syndrome - NGS panel
• Cataract, hereditary - NGS panel
• Catecholaminergic polymorphic ventricular tachycardia / CPVT, NGS panel
• Ketogenesis disorders, NGS panel
• Ketolysis disorders, NGS panel
• Analysis of disorders affecting ketone body metabolism and selected other metabolic disorders, NGS panel
• Disorders of ketone body metabolism, NGS panel
• Analysis of ketone body metabolism/glycogen storage diseases and selected other metabolic disorders, NGS panel
• Short stature, idiopathic familial - NGS panel
• Colorectal cancer / HNPCC/ Lynch syndrome, NGS panel
• Creatine deficiency - NGS Panel

• Leber congenital amaurosis (LCA), NGS panel
• Leigh Syndrome / infantile subacute necrotizing encephalopathy, NGS panel
• Leukodystrophy, late onset - NGS panel
• Leukodystrophy, early onset - NGS panel
• Left ventricular noncompaction / LVNC, NGS panel
• Lipodystrophy, congenital generalized - NGS panel
• Lissencephaly, NGS panel
• Long QT Syndrome, NGS panel
• Lymphoid, unclear disease entity - NGS panel

• Gastric cancer, hereditary - NGS panel
• Macrocephaly, NGS panel
• Malignant hyperthermia, NGS panel
• Myeloid, myeloproliferative neoplasia, systemic mastocytosis SM, AHN panel, NGS
• Myeloid, myeloproliferative neoplasia, systemic mastocytosis SM, prognostic panel small, NGS panel
• Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH), NGS panel
• Myeloid, myelodysplastic syndrome with isolated del(5q), markers with therapeutic relevance, NGS panel
• Myeloid, myelodysplastic/myeloproliferative neoplasms, MDS / MPN overlap, NGS panel
• Myeloid, myelodysplastic syndrome MDS diagnostic, NGS panel
• Myeloid, myelodysplastic syndrome MDS - prognostic markers, NGS panel
• Myeloid, myelodysplastic syndrome MDS, markers with therapeutic relevance, NGS panel
• Meckel Syndrome / MKS, NGS panel
• Melanoma, hereditary - NGS panel
• MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) - NGS panel
• Mental retardation X-linked / MRX - NGS panel
• Mental retardation, autosomal dominant - NGS panel
• Mental retardation, autosomal recessive - NGS panel
• Metabolische Myopathie, NGS-Panel
• Migraine susceptibility, NGS panel
• Migraine, familial hemiplegic - NGS panel
• Mikrophthalmie-Anolphthalmie-Kolombom-Komplex / MAC, NGS-Panel
• Microcephaly, NGS panel
• Mitochondrial hepatic encephalomyopathy, NGS panel
• Mitochondrial cardiomyopathy, NGS panel
• Complete mitochodrial genome, NGS panel
• MODY (Maturity Onset Diabetes of the Young), NGS panel
• Stargardt disease, NGS panel
• Myeloid, myeloproliferative neoplasia, NGS panel 1
• Myeloid, myeloproliferative neoplasia, extended diagnosis panel, NGS panel 2
• Myeloid, myeloproliferative neoplasia, extended prognostic panel, NGS
• Mucopolysaccharidosis, NGS panel
• Muscular dystrophy, NGS panel
• Myasthenic syndrome, myasthenia - NGS panel
• Myeloid, myeloproliferative neoplasia, myelofibrosis prognostic panel according to MIPSS70 or MIPSS70 plus, NGS panel
• Myeloid, myeloproliferative neoplasia, myelofibrosis prognostic panel MIPSS70 or MIPSS70 plus extended, NGS panel
• Myeloid, unclear disease entity, NGS panel
• Myotonia congenita, NGS panel

• Neonatal apneas, NGS panel
• Neonatal diabetes mellitus (NDM) - NGS panel
• Nephrotic syndrome, hereditary - NGS panel
• Neurodegeneration with brain iron accumulation (NBIA) - NGS panel
• Neuropathy, hereditary motor and sensory (HMSN/CMT) - NGS panel
• Congenital anomalies of the kidney and urinary tract / CAKUT - NGS panel
• Kidney disease, polycystic type I/II
• Kidney disease, polycystic dominant / ADPKD - NGS panel
• Kidney disease, polycystic recessive - NGS panel
• Kidney disease, tubulointerstitial autosomal dominant/ADTKD - NGS panel
• Noonan syndrome / RASopathy
• Nuclear mitochondriopathy, NGS panel

• Olaparib therapy - NGS panel ( BRCA1 and BRCA2 sequencing)
• Optic atrophy, nuclear type - NGS panel
• Osler-Rendu-Weber disease, NGS panel

• Pancreatic cancer, hereditary - NGS panel
• Pancreatitis, hereditary / PCTT, NGS panel
• Paraganglioma / Pheochromocytoma, NGS panel
• Parkinson disease - NGS panel
• AA / myeloid, Aplastic Anemia - prognostic and therapeutic markers, NGS panel
• Myeloid, myeloproliferative neoplasia, polycythemia vera - prognostic panel, NGS
• Polyposis coli, (attenuated) familial adenomatous (FAP, AFAP) - NGS panel
• Polycystic liver disease, NGS panel
• Pontine and cerebellar hypoplasia, NGS panel
• Porphyria, NGS panel
• Premature ovarian failure (POF), NGS panel
• Primary coenzyme Q10 deficiency (COQ10D), NGS panel
• Progressive familial intrahepatic cholestasis, NGS panel
• Pulmonary arterial hypertension, NGS panel

• RASopathies - NGS panel
• Refsum disease, NGS panel
• Retinitis pigmentosa, NGS panel

• Senior-Loken syndrome / juvenile nephronophthisis with Leber amaurosis, NGS panel
• Sensorineural non-syndrome hearing impairment - NGS panel
• Short QT syndrome (SQT), NGS panel
• Silver-Russell syndrome - NGS panel
• Small fiber neuropathy / SFN - NGS panel
• Sotos syndrome, NGS panel
• Spastic paraplegia (SPG), NGS panel
• Storage diseases, lysosomal - NGS panel
• Spherocytosis and Elliptocytosis, hereditary - NGS panel
• Spinal muscular atrophy, adult onset - NGS panel
• Spinocerebellar ataxia (SCA), NGS panel
• Stargardt disease / Macular dystrophy with flecks, NGS panel
• Stickler syndrome, hereditary progressive arthroophthalmopathy - NGS panel

• Thoracic aortic aneurysm/ aortic dissection, NGS panel
• Myeloid, myeloproliferative neoplasia, essential thrombocythemia ET - prognostic panel, NGS
• Trio Whole Exome Sequencing / WES
• Malignant solid tumors - therapy planning, NGS panel
• Cancer predisposition, hereditary - NGS panel
• Cancer predisposition, hereditary - XXL NGS panel

• Usher syndrome (retinitis pigmentosa and congenital deafness) NGS panel

• Myeloid, unclear disease entity, NGS panel
• Vitreoretinochoroidopathy - NGS panel

• Cone-rod dystrophy, NGS panel
• Zellweger syndrome / peroxisome biogenesis disorder, NGS panel