Laboratoriumsmedizin
Humangenetik
- 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
- 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
- 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
- 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
- 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
- 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