Watson-Syndrom (WTSN)

Ihr regionales Labor für Rückfragen und Beauftragung
Material Dauer Akkreditierung
3 - 5 ml EDTA-Blut 4 Wochen ja
Untersuchte Bereiche / Gene
Gen/Region OMIM-P Erbgang Erkrankung Methodik
NF1 193520 AD Watson-Syndrom (WTSN) MLPA und DNA-Sequenzanalyse, Short-Read-NGS
HPO Terms
Abdominal wall muscle weakness|Abnormal central motor function|Abnormal choroid morphology|Abnormal dental enamel morphology|Abnormal dental pulp morphology|Abnormal facial shape|Abnormal heart morphology|Abnormal helix morphology|Abnormal internal carotid artery morphology|Abnormal lung morphology|Abnormal renal morphology|Abnormal thorax morphology|Abnormal tibia morphology|Abnormality of the face|Abnormality of the lymphatic system|Abnormality of the skeletal system|Abnormality of the sphenoid sinus|Abnormality of the vertebral column|Adrenal pheochromocytoma|Aniridia|Aqueductal stenosis|Arachnoid hemangiomatosis|Astrocytoma|Atrial septal defect|Attention deficit hyperactivity disorder|Atypical behavior|Atypical neurofibromatosis|Autistic behavior|Autosomal dominant inheritance|Axillary freckling|Beaking of vertebral bodies T12-L3|Bifid nose|Blindness|Bone cyst|Bowing of the legs|Brain imaging abnormality|Brain neoplasm|Brainstem glioma|Breast carcinoma|Broad forehead|Broad neck|Cafe-au-lait spot|Cerebellar glioma|Cerebral artery stenosis|Cerebral hemorrhage|Chest pain|Childhood onset|Coarctation of aorta|Coarse facial features|Colon cancer|Conductive hearing impairment|Congenital onset|Congestive heart failure|Cranial nerve compression|Cryptorchidism|Cubitus valgus|Deeply set eye|Delayed puberty|Delayed speech and language development|Depressed nasal bridge|Deviated nasal septum|Diaphyseal dysplasia|Dilatation of the cerebral artery|Downslanted palpebral fissures|Dural ectasia|Dysphagia|Dysphonia|Elevated circulating calcitonin concentration|Elevated circulating parathyroid hormone level|Elevated urinary dopamine level|Elevated urinary epinephrine level|Elevated urinary norepinephrine level|Embryonal rhabdomyosarcoma|Enamel hypoplasia|Epicanthus|Episodic abdominal pain|Episodic hyperhidrosis|Episodic paroxysmal anxiety|Extraadrenal pheochromocytoma|Facial asymmetry|Fatigue|Few cafe-au-lait spots|Flushing|Focal-onset seizure|Freckling|Gastrointestinal stroma tumor|Genu valgum|Glaucoma|Glioma|Global developmental delay|Glomerular sclerosis|Glomus jugular tumor|Granuloma|Headache|Hemangioma|Hematuria|High palate|Hydrocephalus|Hydronephrosis|Hypercalcemia|Hyperlordosis|Hypermelanotic macule|Hypertelorism|Hypertension|Hypertension associated with pheochromocytoma|Hypertensive retinopathy|Hypertrophic cardiomyopathy|Hypopigmented macule|Hypoplasia of the corpus callosum|Hypotelorism|Hypotonia|Hypsarrhythmia|Impaired visuospatial constructive cognition|Infantile onset|Inguinal freckling|Intellectual disability|Intellectual disability, mild|Intrauterine growth retardation|Joint hypermobility|Juvenile myelomonocytic leukemia|Kyphoscoliosis|Kyphosis|Language impairment|Large hands|Leukemia|Lipoma|Lisch nodules|Long face|Long foot|Long philtrum|Low posterior hairline|Low-set ears|Lower limb dysmetria|Lower limb muscle weakness|Macrocephaly|Macroorchidism|Macule|Malar flattening|Medullary thyroid carcinoma|Memory impairment|Meningioma|Microcephaly|Micrognathia|Middle age onset|Midface retrusion|Migraine|Mitral regurgitation|Mitral stenosis|Mitral valve prolapse|Moderate global developmental delay|Multiple cafe-au-lait spots|Multiple mucosal neuromas|Muscle weakness|Myelodysplasia|Narrow forehead|Narrowing of medullary canal|Nausea|Neuroblastoma|Neurodevelopmental delay|Neurofibroma|Neurofibrosarcoma|Nevus anemicus|Optic nerve glioma|Ossifying fibroma|Osteolysis|Osteopenia|Osteoporosis|Overgrowth|Pain|Pallor|Palpitations|Panic attack|Papule|Paraganglioma|Paraganglioma of head and neck|Paraparesis|Parathyroid adenoma|Paroxysmal vertigo|Patent foramen ovale|Pectus carinatum|Pectus excavatum|Pectus excavatum of inferior sternum|Pericarditis|Pes cavus|Pheochromocytoma|Pilocytic astrocytoma|Plexiform neurofibroma|Polyneuropathy|Positive regitine blocking test|Posteriorly rotated ears|Precocious puberty|Progressive visual loss|Prolonged bleeding time|Prominent glabella|Prominent nasolabial fold|Proportionate tall stature|Proptosis|Proteinuria|Protruding ear|Ptosis|Pulmonary arterial hypertension|Pulmonic stenosis|Pulsatile tinnitus|Recurrent paroxysmal headache|Recurrent subcortical infarcts|Reduced social responsiveness|Relative macrocephaly|Renal artery stenosis|Renal cell carcinoma|Renal hypoplasia/aplasia|Renovascular hypertension|Retinal capillary hemangioma|Retinal vascular proliferation|Rhabdomyosarcoma|Schwannoma|Scoliosis|Secundum atrial septal defect|Seizure|Short attention span|Short neck|Short stature|Sinus tachycardia|Sinusitis|Sleep abnormality|Sparse eyebrow|Sparse eyelashes|Specific learning disability|Speech articulation difficulties|Sphenoid wing dysplasia|Spina bifida|Spinal neurofibroma|Strabismus|Stroke|Subcutaneous neurofibroma|Superior pectus carinatum|Symmetric spinal nerve root neurofibromas|Telangiectasia of the skin|Thick nasal alae|Thick vermilion border|Thickened cortex of long bones|Thickened skin|Thin vermilion border|Tibial pseudarthrosis|Tremor|Typified by somatic mosaicism|Ventricular septal defect|Vocal cord paralysis|Webbed neck|Weight loss|Wide intermamillary distance|Young adult onset
Kosten
Die Kosten werden bei bestehender medizinischer Indikation über einen Überweisungsschein Typ 10 (EBM) abgerechnet. Humangenetische Leistungen sind nicht budgetrelevant. Für privatversicherte Patienten sowie private Kostenträger (Krankenhäuser etc.) können auf Wunsch entsprechende Kostenvoranschläge erstellt werden.
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