SYNLAB MVZ
Humangenetik Mannheim

Familiäres Mittelmeerfieber (FMF)

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
MEFV 249100 AR/AD Familiäres Mittelmeerfieber (FMF) MLPA-Analyse, Sanger-Sequenzierung, Short-Read-NGS
HPO Terms
AA amyloidosis|Abdominal pain|Abnormal blistering of the skin|Abnormal circulating interleukin concentration|Abnormal drug response|Abnormal myocardium morphology|Abnormal pyramidal sign|Abnormality of the face|Abnormality of the hand|Abnormality of the knee|Abnormality of the neck|Abnormality of tumor necrosis factor secretion|Acne|Acne inversa|Acute hepatic failure|Acute myeloid leukemia|Amyloidosis|Anemia|Anorexia|Anxiety|Aortic regurgitation|Aphthous ulcer|Arrhythmia|Arterial thrombosis|Arthralgia|Arthritis|Ascites|Asthenia|Ataxia|Atypical behavior|Autosomal dominant inheritance|Autosomal recessive inheritance|Avascular necrosis|Blindness|Breast carcinoma|Cataract|Cerebral ischemia|Chest pain|Childhood onset|Chondrocalcinosis|Chronic constipation|Chronic lymphatic leukemia|Confusion|Constipation|Cranial nerve paralysis|Crohn's disease|Cystic acne|Depression|Developmental regression|Diarrhea|Dilated cardiomyopathy|Elevated circulating amyloid A concentration|Elevated circulating C-reactive protein concentration|Elevated erythrocyte sedimentation rate|Endocarditis|Epididymitis|Episodic abdominal pain|Erysipelas|Erythema|Erythema nodosum|Erythematous papule|Erythematous plaque|Fatigue|Fever|Gait disturbance|Gangrene|Gastrointestinal hemorrhage|Gastrointestinal infarctions|Genital ulcers|Glomerulonephritis|Glomerulopathy|Headache|Hematological neoplasm|Hemiparesis|Hemoptysis|Hepatomegaly|Hyperfibrinogenemia|Hyperreflexia|Hypoesthesia|Immunologic hypersensitivity|Increased circulating interleukin 6 concentration|Increased inflammatory response|Increased intracranial pressure|Infantile onset|Infectious encephalitis|Inflammation of the large intestine|Intestinal obstruction|Irritability|Joint swelling|Juvenile onset|Keratoconjunctivitis sicca|Knee joint hypermobility|Leukocytosis|Low back pain|Lymphadenopathy|Malabsorption|Memory impairment|Meningitis|Migraine|Mitral regurgitation|Myalgia|Myocardial infarction|Myocarditis|Myositis|Nausea and vomiting|Neoplasm|Nephrocalcinosis|Nephropathy|Nephrotic syndrome|Neutrophilia|Non-infectious meningitis|Non-periodic recurrent fever|Nongranulomatous uveitis|Oligoarthritis|Optic neuritis|Oral leukoplakia|Oral ulcer|Orchitis|Osteoarthritis|Pain|Pancreatitis|Panniculitis|Panuveitis|Papule|Paresthesia|Pedal edema|Pericarditis|Peritonitis|Photophobia|Pleural effusion|Pleuritis|Polyarticular arthritis|Poor appetite|Positive pathergy test|Predominantly dermal neutrophilic infiltrate|Proteinuria|Pulmonary embolism|Pulmonary infiltrates|Pustule|Pyoderma gangrenosum|Recurrent aphthous stomatitis|Recurrent fever|Recurrent infections|Renal amyloidosis|Renal insufficiency|Retinopathy|Retrobulbar optic neuritis|Seizure|Skin nodule|Skin rash|Skin vesicle|Sleep abnormality|Small vessel vasculitis|Splenomegaly|Stage 5 chronic kidney disease|Sterile abscess|Subcutaneous nodule|Superficial thrombophlebitis|Vasculitis|Venous thrombosis|Vertigo|Vomiting|Weight loss|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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