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 |
| HBB |
140700
|
AD |
Heinz-Körper-Anämie |
MLPA und DNA-Sequenzanalyse, Short-Read-NGS |
HPO Terms
Abdominal pain|Abnormal bone structure|Abnormal hemoglobin|Abnormal skeletal morphology|Abnormality of iron homeostasis|Abnormality of the cardiovascular system|Abnormality of the dentition|Abnormality of the liver|Abnormality of the nervous system|Abnormality of the skeletal system|Abnormality of the spleen|Abnormality of the vasculature|Adrenal insufficiency|Anemia|Anemia of inadequate production|Anisocytosis|Anisopoikilocytosis|Arrhythmia|Arthralgia|Asplenia|Autosomal dominant inheritance|Autosomal recessive inheritance|Avascular necrosis|Bowing of the long bones|Cardiomegaly|Chest pain|Cholelithiasis|Chronic hemolytic anemia|Chronic hepatitis|Chronic infection|Chronic kidney disease|Cirrhosis|Cyanosis|Decreased liver function|Decreased mean corpuscular hemoglobin concentration|Decreased mean corpuscular volume|Delayed puberty|Depressed nasal bridge|Diabetes mellitus|Diarrhea|Dilated cardiomyopathy|Drug-sensitive hemolytic anemia|Dyspnea|Elevated circulating creatinine concentration|Elevated hepatic iron concentration|Erythrocyte inclusion bodies|Erythroid hyperplasia|Extramedullary hematopoiesis|Failure to thrive in infancy|Feeding difficulties|Finger dactylitis|Frontal bossing|Genu valgum|Growth delay|HbS hemoglobin|Heinz bodies|Heinz body anemia|Hematuria|Hemolytic anemia|Hepatic fibrosis|Hepatocellular carcinoma|Hepatomegaly|Hepatosplenomegaly|High-output congestive heart failure|Hypercoagulability|Hyperpigmentation of the skin|Hyperplasia of the maxilla|Hypersplenism|Hypertension|Hyphema|Hypochromia|Hypochromic anemia|Hypochromic microcytic anemia|Hypogonadism|Hypoparathyroidism|Hypopituitarism|Hypoplasia of the musculature|Hypothyroidism|Hypoxemia|Imbalanced hemoglobin synthesis|Immunodeficiency|Increased circulating ferritin concentration|Increased circulating hemoglobin concentration|Increased circulating lactate dehydrogenase concentration|Increased HbA2 hemoglobin|Increased hematocrit|Increased mean corpuscular volume|Increased red blood cell count|Increased red cell osmotic resistance|Increased red cell sickling tendency|Increased susceptibility to fractures|Intrahepatic cholestasis|Intrauterine growth retardation|Iron deficiency anemia|Irritability|Ischemic stroke|Jaundice|Leukocytosis|Malar prominence|Methemoglobinemia|Microcytic anemia|Miscarriage|Nonspherocytic hemolytic anemia|Osteomyelitis|Osteopenia|Osteoporosis|Pain|Pallor|Persistence of hemoglobin F|Pigment gallstones|Polycythemia|Premature birth|Priapism|Proximal tubulopathy|Pulmonary arterial hypertension|Pulmonary infiltrates|Recurrent bacterial infections|Recurrent fever|Recurrent infections|Reduced alpha/beta synthesis ratio|Reduced beta/alpha synthesis ratio|Reduced bone mineral density|Reduced hemoglobin A|Renal insufficiency|Reticulocytosis|Retinal arterial occlusion|Retinopathy|Severe infection|Sickled erythrocytes|Skin ulcer|Spinal cord compression|Splenic infarction|Splenomegaly|Stroke|Target cells|Thrombocytosis|Unconjugated hyperbilirubinemia|Upslanted palpebral fissure|Venous thrombosis
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.
Stand: 26.02.2009