General description
Order details
Test number | 9330 |
Sample material | 0,5 ml EDTA Blut, 1x Spezailabstrich (eNAT) |
Test duration | 14-21 Werktage |
Hypotrichose und Kurzlebigkeit
Test specifications
Symptom complex | systemisch |
Age of onset | ab Geburt |
Causality | ursächlich |
Gene | FOXN1 |
Mutation | DEL |
Literature | OMIA:001949-9685 |
Gangliosidose (GM1)
Test specifications
Symptom complex | neurologisch |
Age of onset | 2 Monate |
Causality | ursächlich |
Gene | GLB1 |
Mutation | C-G |
Literature | OMIA:000402-9685 |
Pyruvatkinase-Defizienz (PK)
Test specifications
Symptom complex | hämatologisch |
Causality | ursächlich |
Gene | PKLR |
Mutation | G-A |
Literature | OMIA:000844-9685 |
Myotonia congenita
Test specifications
Symptom complex | muskulär |
Causality | ursächlich |
Gene | CLCN1 |
Mutation | G-T |
Literature | OMIA:000698-9685 |
Gangliosidose (GM2)
Test specifications
Symptom complex | neurologisch |
Age of onset | 2 Monate |
Causality | ursächlich |
Gene | HEXB |
Mutation | DEL |
Literature | OMIA:001462-9685 |
MDR1-Genvariante
Test specifications
Symptom complex | metabolisch |
Causality | ursächlich |
Gene | ABCB1 |
Mutation | DEL |
Literature | OMIA:001402-9685 |
genetische Blutgruppenbestimmung
Test specifications
Symptom complex | hämatologisch |
Causality | ursächlich |
Gene | CMAH |
Mutation | COMPLEX |
Literature | OMIA:000119-9685 |
Progressive Retinaatrophie (pd-PRA)
Test specifications
Symptom complex | ophtalmisch |
Age of onset | 5 Wochen |
Causality | ursächlich |
Gene | AIPL1 |
Mutation | C-T |
Literature | OMIA:001222-9685 |
Hypertrophe Kardiomyopathie (HCM1)
Test specifications
Symptom complex | cardial |
Causality | ursächlich |
Gene | MYBPC3 |
Mutation | C-G |
Literature | OMIA:000515-9685 |
Head Defect
Test specifications
Symptom complex | skeletal |
Causality | ursächlich |
Gene | ALX1 |
Mutation | DEL |
Literature | OMIA:001551-9685 |
Hypertrophe Kardiomyopathie (HCM4)
Test specifications
Symptom complex | cardial |
Age of onset | 1-14 Jahre |
Causality | ursächlich |
Gene | ALMS1 |
Mutation | G-C |
Literature | OMIA:002316-9685 |
Osteochondrodysplasie
Test specifications
Symptom complex | skeletal |
Causality | ursächlich |
Gene | TRPV4 |
Mutation | C-A |
Literature | OMIA:000319-9685 |
Gangliosidose (GM2)
Test specifications
Symptom complex | neurologisch |
Age of onset | 3 Monate |
Causality | ursächlich |
Gene | HEXB |
Mutation | DEL |
Literature | OMIA:001462-9685 |
Hypokaliämie
Test specifications
Symptom complex | muskulär |
Causality | ursächlich |
Gene | WNK4 |
Mutation | C-T |
Literature | OMIA:001759-9685 |
Cystinurie
Test specifications
Symptom complex | urologisch |
Age of onset | jugendliches Alter |
Causality | ursächlich |
Gene | SLC7A9 |
Mutation | T-A |
Literature | OMIA:002023-9685 |
Acrodermatitis enteropathica (AE)
Test specifications
Symptom complex | dermatologisch |
Age of onset | 6-8 Wochen |
Causality | ursächlich |
Gene | SLC39A4 |
Mutation | C-G |
Literature | OMIA:000593-9685 |
Faktor XI-Defizienz (F11)
Test specifications
Symptom complex | hämatologisch |
Causality | assoziiert |
Gene | F11 |
Mutation | G-A |
Literature | OMIA:000363-9685 |
Spinale Muskelatrophie (SMA)
Test specifications
Symptom complex | neuromuskulär |
Age of onset | 12 Wochen |
Causality | ursächlich |
Gene | LIX1 |
Mutation | COMPLEX |
Literature | OMIA:002389-9685 |
Primäres erbliches Glaukom (PCG)
Test specifications
Symptom complex | ophtalmisch |
Age of onset | ab Geburt |
Causality | ursächlich |
Gene | LTBP2 |
Mutation | INS |
Literature | OMIA:002017-9685 |
Mucopolysaccharidose Typ VI (MPS6)
Test specifications
Symptom complex | systemisch |
Causality | ursächlich |
Gene | ARSB |
Mutation | A-G, C-T |
Literature | OMIA:000666-9685 |
Mucopolysaccharidose Typ VII (MPS7)
Test specifications
Symptom complex | skeletal |
Age of onset | 2 Monate |
Causality | ursächlich |
Gene | GUSB |
Mutation | G-A |
Literature | OMIA:000667-9685 |
Alpha-Mannosidose (AMD)
Test specifications
Symptom complex | neurologisch |
Causality | ursächlich |
Gene | MAN2B1 |
Mutation | DEL |
Literature | OMIA:000625-9685 |
Polyzystische Nierenerkrankung (PKD)
Test specifications
Symptom complex | nephrologisch |
Age of onset | 8 Monate |
Causality | ursächlich |
Gene | PKD1 |
Mutation | C-A |
Literature | OMIA:000807-9685 |
Autoimmunes lymphoproliferatives Syndrom (ALPS)
Test specifications
Symptom complex | immunologisch |
Age of onset | 8 Wochen |
Causality | ursächlich |
Gene | FASLG |
Mutation | INS |
Literature | OMIA:002064-9685 |
Congenitales myasthenes Syndrom (CMS)
Test specifications
Symptom complex | muskulär |
Age of onset | 3 Wochen |
Causality | ursächlich |
Gene | COLQ |
Mutation | C-T |
Literature | OMIA:001621-9685 |
Glycogenspeicherkrankheit Typ IV (GSD4)
Test specifications
Symptom complex | neuromuskulär |
Age of onset | 5 Monate |
Causality | ursächlich |
Gene | GBE1 |
Mutation | COMPLEX |
Literature | OMIA:000420-9685 |
Hypertrophe Kardiomyopathie (HCM3)
Test specifications
Symptom complex | cardial |
Causality | ursächlich |
Gene | MYBPC3 |
Mutation | G-A |
Literature | OMIA:000515-9685 |
Faktor XII-Defizienz (F12)
Test specifications
Symptom complex | hämatologisch |
Causality | assoziiert |
Gene | F12 |
Mutation | DEL |
Literature | OMIA:000364-9685 |
Progressive Retinaatrophie (rdAc-PRA)
Test specifications
Symptom complex | ophtalmisch |
Age of onset | 1,5-2 Jahre |
Causality | ursächlich |
Gene | CEP290 |
Mutation | A-C |
Literature | OMIA:001244-9685 |
Progressive Retinaatrophie (b-PRA)
Test specifications
Symptom complex | ophtalmisch |
Age of onset | 7 Wochen |
Causality | ursächlich |
Gene | KIF3B |
Mutation | C-T |
Literature | OMIA:002267-9685 |