Генетические исследования в лаборатории CeGaT (Германия)

Erythrocytes, Anemia

Thrombocytopenia

Bone marrow failure syndromes

Hemochromatosis

VB12-dependent megaloblastic anemia

Cardiomyopathy, dilated

Cardiomyopathy, hypertrophic

Left ventricular noncompaction cardiomyopathy (NCCM/LVNC)

Atrial fibrillation and short QT syndrome

Long QT syndrome

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C)

Brugada syndrome

Catecholaminergic polymorphic ventricular tachycardia (CPVT), paroxysmal/ idiopathic ventricular fibrillation/tachycardia

Congenital heart defects

RASopathies

Cardiomyopathy, restrictive

Cardiomyopathy with onset in neonatal period, infancy or childhood

Neuromuscular diseases with cardiomyopathy

Pulmonary arterial hypertension

Hypercholesterolemia and hyperlipoproteinemia

Primary ciliary dyskinesia

Joubert syndrome

Bardet-Biedl syndrome

Senior Loken syndrome

Stickler syndrome

Connective tissue diseases: Ehlers-Danlos syndrome, Marfan syndrome, Loeys- Dietz syndrome, thoracic aortic aneurysm and related disorders

Hearing loss, nonsyndromic, autosomal recessive and X-linked

Hearing loss, nonsyndromic, autosomal dominant and X-linked

Syndromic hearing loss

Microcephaly and pontocerebellar hypoplasia

Neuronal migration disorders

Holoprosencephaly spectrum

Macrocephaly

Leukodystrophy and leukoencephalopathy

Aicardi-Goutières syndrome

Joubert syndrome

Leukodystrophy and leukoencephalopathy and differential diagnoses

Kabuki syndrome and differential diagnoses

Coffin-Siris syndrome

Cornelia de Lange syndrome

Familial and idiopathic epilepsy

Epilepsy and developmental delay (incl. epileptic encephalopathies)

GPI anchor deficiency with or without hyperphosphatasia

Migraine

Hyperekplexia

Metabolic/Mitochondrial epilepsy

Congenital disorders of glycosylation (CDG syndrome)

Lysosomal disorders

Peroxisome biogenesis disorders: Zellweger spectrum disorder

Usher syndrome

Retinitis pigmentosa, autosomal dominant and X-linked

Retinitis pigmentosa, autosomal recessive and X-linked

Bardet-Biedl syndrome

Congenital stationary night blindness

Joubert syndrome

Leber congenital amaurosis

Zellweger syndrome spectrum (Refsum/ Zellweger/neonatal adrenoleukodystrophy)

Senior Loken syndrome

Stargardt disease and macular dystrophies

Cone rod dystrophies

Flecked retina disorders

Vitreoretinopathies (Wagner syndrome/ Norrie/ Coats)

Stickler syndrome

Optic atrophy (incl. LHON (Leber Hereditary Optic Neuropathy))

Oculocutaneous albinism

Syndromic albinism (Hermansky-Pudlak/ Waardenburg/ Vici/ Griscelli)

Ocular malformations (microphthalmia/ anophtalmia/ nanophthalmia/ colomba)

Cataract

Septo-optical dysplasia

Glaucoma

Corneal dystrophies

Ectopia lentis

Primary ovarian insufficiency (POI)

Premature ovarian failure (POF)

Ovarian dysgenesis

Recurrent pregnancy lost, early embryonic arrest and thrombophilia

Thyroid dyshormogenesis and congenital hypothyroidism

Azoospermia

Oligozoospermia

Oligoastheno-teratozoospermia

Irregularly sperm and flagella morphology

Hypogonadotropic hypogonadism with or without anosmia

Pituitary hormone deficiency

Nephronophthisis

NPHP1 deletion/duplication analysis (MLPA)

Nephronophthisis (NGS Panel)

Cystic kidney disease

PKD1/PKD2 sequencing parallel with NGS-panel

Cystic kidney disease (NGS panel)

Renal tubular dysgenesis

Renal dysplasia, renal agenesia, CAKUT

Nephrotic syndrome

Focal segmental glomerulosclerosis

Alport syndrome and disorders of glomerular basement membrane (GBM)

C1q deficiency

Renal tubular acidosis

Bartter syndrome and differential diagnoses

Hypophosphatemic rickets

Pseudohypoaldosteronism

Diabetes insipidus, nephrogenic

Hyperoxaluria

Atypical hemolytic uremic syndrome and differential diagnoses

Primary inherited aminoacidurias

Branchiootorenal syndrome

Bardet-Biedl syndrome

Joubert syndrome

Meckel syndrome

Senior-Loken syndrome

Cholestasis familial

Hypercholanemia and bile acid synthesis defects

Impairment of the transport in hepatocytes and cholangiocytes

Impairment of the organo morphogensis

Metabolic disorders of hepatocytes, including tyrosinemia, glycogen storage diseases, Hyperammonemia, Shwachman-Diamond syndrome, disorder of fatty acid oxidations and peroxisomal diseases

Lysosomal storage disorders

Recurrent acute liver failure

Hepatic mitochondriopathies

Cerebral creatine deficiency

Urea cycle disorders

Glycine encephalopathy

Hyperphenylalaninemia

Maple syrup urine disease and DLD deficiency

Methylmalonic acidemia

3-Methylglutaconic aciduria

Hyperinsulinemic hypoglycemia

Maturity-onset diabetes of the young (MODY)

Glycogen storage diseases

Fatty acid oxidation disorders

Mitochondrial DNA (mtDNA)

Nuclear encoded mitochondrial diseases

Mitochondrial DNA depletion syndrome

Metabolic myopathy

Pyruvat dehydrogenase complex deficiency

Combined oxidative phosphorylation deficience (COXPD)

Mitochondrial complex deficiency (complex I-V)

Coenzyme Q10-related disease

Metabolic leukodystrophy/leukoencephalopathy and differential diagnoses

Parkinson's disease, autosomal dominant

Parkinson's disease, autosomal recessive

Atypical Parkinson's disease

Dystonia-Parkinsonism

Parkinson's disease

Primary torsion dystonia

Dystonia plus syndrome

Paroxysmal dyskinesia

Dystonia

Neurodegeneration with brain iron accumulation (NBIA)

Congenital and distal myopathies

Limb-girdle muscular dystrophies

Myotonia

Metabolic myopathies

Walker-Warburg syndrome

Periodic paralysis

Congenital myasthenic syndromes

Arthrogryposis

Antibody deficiency

Complement deficiencies

Autoinflammatory diseases

Immune dysregulation

Defects of phagocytes

Innate immunity defects

Combined immunodeficiency

Syndromes with immunodeficiencies

Metaphyseal dysplasia

Multiple epiphyseal dysplasia and pseudoachondroplasia

Spondylometaphyseal dysplasia and spondylo-epi-(meta)-physeal dysplasia

Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia

Short-rib dysplasia

Chondrodysplasia punctata

Osteogenesis imperfecta and related skeletal dysplasia with decreased bone density

Osteopetrosis and related skeletal dysplasia with increased bone density

Hypophosphatemic rickets and related skeletal dysplasia with abnormal mineralization

Limb malformations: isolated brachydactyly, synostoses, split-hand/foot, polydactyly, syndactyly, and selected genetic syndromes with limb malformations

Craniosynostosis

Potentially lethal skeletal disorders

Seckel syndrome, 3-M syndrome, Rubinstein-Taybi syndrome, Kabuki syndrome, and further selected genetic syndromes with skeletal involvement

Lysosomal storage disorders with skeletal involvement

Craniofacial and patellar dysostoses; dysostoses with vertebral and costal inolvement: Klippel-Feil syndrome, Meier-Gorlin syndrome and related disorders

Achondroplasia, hypochondroplasia, and pseudoachondroplasia

Cleidocranial dysplasia and related disorders

Multiple exostoses

Oculocutaneous albinism

Syndromic albinism and related disorders: Hermansky-Pudlak syndrome, Griscelli syndrome, Waardenburg syndrome

Hyperpigmentation: Dowling-Degos and related disorders

Ichthyosis, palmoplantar keratoderma, and related disorders of cornification

Epidermolysis bullosa and related genetic blistering disorders

Ectodermal dysplasia, selective tooth agenesis, trichothiodystrophy and hypotrichosis

Dyskeratosis congenita

Photodermatosis: Xeroderma pigmentosum, Cockayne syndrome, COFS syndrome and related disorders

Neurofibromatosis 1 and related disorders

Vascular disorders: Hereditary hemorrhagic telangiectasia, cerebral cavernous malformations, association with MoyaMoya, and related disorders

Progeria syndromes and lipodystrophy

Lymphedema

WES Classic (Blut-Probe) Exome Sequencing

WES Premium (Tumor Probe) Sequencing

Whole Exome Analysis

Trio Exome Analysis

Clinical Trio Exome Analysis

Duo Exome Analysis

TS Flex (Tumore Probe) Total RNA Sequencing

Tumor Immuno-Oncology Analysis (TMB and MSI)

Additional Sample for Tumor Immuno-Oncology analysis

Somatic Tumor Panel for treatment decision support

Somatic Tumor Panel "Double Best" incl. liquid biopsy sample

Somatic Tumor Panel Extended Medical Report

Somatic Tumor Panel Extended Medical Report Additional Sample

Additional Sample for Somatic Tumor Panel

BRCA1 and BRCA2 analysis in tumor tissue

BRCA1 and BRCA2 analysis in normal tissue

BRCA1 and BRCA2 analysis in tumor and normal tissue

Analysis for microsatellite instability (MSI) via PCR

Melanoma

Colorectalcancer/gastric cancer

Lung cancer

Gastronintestinal stromal tumors

Glioma

Breast- and Ovarialcarcinoma

Thyroid cancer

Myelodisplastic syndromes (MDS)

Cholangiocellular carcinoma

Pancreatic cancer

Colorectal cancer

Breast and ovarian cancer

Prostate cancer

Pheochromocytoma and paraganglioma

Other familial tumor syndromes

Pancreatic cancer

Renal cell carcinoma

Xeroderma pigmentosum

Melanoma

Fanconi anemia

Colorectal cancer polyposis syndrome

Colorectal cancer - hereditary nonpolyposis colorectal cancer (HNPCC)/Lynch syndrome

Gastric cancer

Cowden syndrome

Breast and ovarian cancer - extended

Tumors of the central nervous system