General description
Order details
| Test number | 9330 |
| Sample material | 0.5 ml EDTA blood, 1x special swab (eNAT) |
| Test duration | 14-21 working days |
Congenital myasthenic syndrome (CMS)
Test specifications
| Symptom complex | muscular |
| Age of onset | 3 weeks |
| Causality | causally |
| Gene | COLQ |
| Mutation | C-T |
| Literature | OMIA:001621-9685 |
Progressive retinal atrophy (pd-PRA)
Test specifications
| Symptom complex | ophthalmic |
| Age of onset | 5 weeks |
| Causality | causally |
| Gene | AIPL1 |
| Mutation | C-T |
| Literature | OMIA:001222-9685 |
Cystinuria
Test specifications
| Symptom complex | urological |
| Age of onset | young age |
| Causality | causally |
| Gene | SLC7A9 |
| Mutation | T-A |
| Literature | OMIA:002023-9685 |
Gangliosidosis (GM2)
Test specifications
| Symptom complex | neurological |
| Age of onset | 3 months |
| Causality | causally |
| Gene | HEXB |
| Mutation | DEL |
| Literature | OMIA:001462-9685 |
Autoimmune lymphoproliferative syndrome (ALPS)
Test specifications
| Symptom complex | immunological |
| Age of onset | 8 weeks |
| Causality | causally |
| Gene | FASLG |
| Mutation | INS |
| Literature | OMIA:002064-9685 |
Hypertrophic cardiomyopathy (HCM4)
Test specifications
| Symptom complex | cardiac |
| Age of onset | 1-14 years |
| Causality | causally |
| Gene | ALMS1 |
| Mutation | G-C |
| Literature | OMIA:002316-9685 |
Factor XI deficiency (F11)
Test specifications
| Symptom complex | hematologic |
| Causality | associated |
| Gene | F11 |
| Mutation | G-A |
| Literature | OMIA:000363-9685 |
Acrodermatitis enteropathica (AE)
Test specifications
| Symptom complex | dermatologic |
| Age of onset | 6-8 weeks |
| Causality | causally |
| Gene | SLC39A4 |
| Mutation | C-G |
| Literature | OMIA:000593-9685 |
Alpha-Mannosidosis (AMD)
Test specifications
| Symptom complex | neurological |
| Causality | causally |
| Gene | MAN2B1 |
| Mutation | DEL |
| Literature | OMIA:000625-9685 |
MDR1 gene variant
Test specifications
| Symptom complex | metabolic |
| Causality | causally |
| Gene | ABCB1 |
| Mutation | DEL |
| Literature | OMIA:001402-9685 |
Factor XII deficiency (F12)
Test specifications
| Symptom complex | hematologic |
| Causality | associated |
| Gene | F12 |
| Mutation | DEL |
| Literature | OMIA:000364-9685 |
Gangliosidosis (GM2)
Test specifications
| Symptom complex | neurological |
| Age of onset | 2 months |
| Causality | causally |
| Gene | HEXB |
| Mutation | DEL |
| Literature | OMIA:001462-9685 |
Hypotrichosis and short life expectancy
Test specifications
| Symptom complex | systemic |
| Age of onset | from birth |
| Causality | causally |
| Gene | FOXN1 |
| Mutation | DEL |
| Literature | OMIA:001949-9685 |
Progressive retinal atrophy (b-PRA)
Test specifications
| Symptom complex | ophthalmic |
| Age of onset | 7 weeks |
| Causality | causally |
| Gene | KIF3B |
| Mutation | C-T |
| Literature | OMIA:002267-9685 |
Osteochondrodysplasia (OCD)
Test specifications
| Symptom complex | skeletal |
| Causality | causally |
| Gene | TRPV4 |
| Mutation | C-A |
| Literature | OMIA:000319-9685 |
Primary congenital glaucoma (PCG)
Test specifications
| Symptom complex | ophthalmic |
| Age of onset | from birth |
| Causality | causally |
| Gene | LTBP2 |
| Mutation | INS |
| Literature | OMIA:002017-9685 |
Hypokalaemia
Test specifications
| Symptom complex | muscular |
| Causality | causally |
| Gene | WNK4 |
| Mutation | C-T |
| Literature | OMIA:001759-9685 |
Gangliosidosis (GM1)
Test specifications
| Symptom complex | neurological |
| Age of onset | 2 months |
| Causality | causally |
| Gene | GLB1 |
| Mutation | C-G |
| Literature | OMIA:000402-9685 |
Polycystic kidney disease (PKD)
Test specifications
| Symptom complex | nephrological |
| Age of onset | 8 months |
| Causality | causally |
| Gene | PKD1 |
| Mutation | C-A |
| Literature | OMIA:000807-9685 |
Pyruvate kinase deficiency (PK)
Test specifications
| Symptom complex | hematologic |
| Causality | causally |
| Gene | PKLR |
| Mutation | G-A |
| Literature | OMIA:000844-9685 |
Myotonia congenita
Test specifications
| Symptom complex | muscular |
| Causality | causally |
| Gene | CLCN1 |
| Mutation | G-T |
| Literature | OMIA:000698-9685 |
Head Defect
Test specifications
| Symptom complex | skeletal |
| Causality | causally |
| Gene | ALX1 |
| Mutation | DEL |
| Literature | OMIA:001551-9685 |
Mucopolysaccharidosis type VI (MPS6)
Test specifications
| Symptom complex | systemic |
| Causality | causally |
| Gene | ARSB |
| Mutation | A-G, C-T |
| Literature | OMIA:000666-9685 |
Mucopolysaccharidosis type VII (MPS7)
Test specifications
| Symptom complex | skeletal |
| Age of onset | 2 months |
| Causality | causally |
| Gene | GUSB |
| Mutation | G-A |
| Literature | OMIA:000667-9685 |
Hypertrophic cardiomyopathy (HCM1)
Test specifications
| Symptom complex | cardiac |
| Causality | causally |
| Gene | MYBPC3 |
| Mutation | C-G |
| Literature | OMIA:000515-9685 |
Glycogen storage disease type IV (GSD4)
Test specifications
| Symptom complex | neuromuscular |
| Age of onset | 5 months |
| Causality | causally |
| Gene | GBE1 |
| Mutation | COMPLEX |
| Literature | OMIA:000420-9685 |
Hypertrophic cardiomyopathy (HCM3)
Test specifications
| Symptom complex | cardiac |
| Causality | causally |
| Gene | MYBPC3 |
| Mutation | G-A |
| Literature | OMIA:000515-9685 |
Progressive retinal atrophy (rdAc-PRA)
Test specifications
| Symptom complex | ophthalmic |
| Age of onset | 1.5-2 years |
| Causality | causally |
| Gene | CEP290 |
| Mutation | A-C |
| Literature | OMIA:001244-9685 |
Genetic blood group
Test specifications
| Symptom complex | hematologic |
| Causality | causally |
| Gene | CMAH |
| Mutation | COMPLEX |
| Literature | OMIA:000119-9685 |
Spinal muscular atrophy (SMA)
Test specifications
| Symptom complex | neuromuscular |
| Age of onset | 12 weeks |
| Causality | causally |
| Gene | LIX1 |
| Mutation | COMPLEX |
| Literature | OMIA:002389-9685 |
