General description
includes the following genetic tests: HCM1, HCM3, GSD IV, PKD, rdAc-PRA, PK-Def., SMA and genetic bloodgroup
Order details
| Test number | 8350 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Polycystic kidney disease (PKD)
Test specifications
| Symptom complex | nephrological |
| Inheritance | autosomal dominant |
| 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 |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | PKLR |
| Mutation | G-A |
| Literature | OMIA:000844-9685 |
Hypertrophic cardiomyopathy (HCM1)
Test specifications
| Symptom complex | cardiac |
| Inheritance | autosomal dominant |
| Causality | causally |
| Gene | MYBPC3 |
| Mutation | C-G |
| Literature | OMIA:000515-9685 |
Glycogen storage disease type IV (GSD4)
Test specifications
| Symptom complex | neuromuscular |
| Inheritance | autosomal recessive |
| Age of onset | 5 months |
| Causality | causally |
| Gene | GBE1 |
| Mutation | COMPLEX |
| Literature | OMIA:000420-9685 |
Hypertrophic cardiomyopathy (HCM3)
Test specifications
| Symptom complex | cardiac |
| Inheritance | autosomal dominant |
| Causality | causally |
| Gene | MYBPC3 |
| Mutation | G-A |
| Literature | OMIA:000515-9685 |
Progressive retinal atrophy (rdAc-PRA)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| 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 |
| Inheritance | Allelische Reihe nach Dominanz: N>c>b |
| Causality | causally |
| Gene | CMAH |
| Mutation | COMPLEX |
| Literature | OMIA:000119-9685 |
Spinal muscular atrophy (SMA)
Test specifications
| Symptom complex | neuromuscular |
| Inheritance | autosomal recessive |
| Age of onset | 12 weeks |
| Causality | causally |
| Gene | LIX1 |
| Mutation | COMPLEX |
| Literature | OMIA:002389-9685 |
