General description
includes: Genetic blood group, hypertrophic cardiomyopathy (HCM), Spinal muscular atrophy (SMA) and Pyruvate kinase deficiency (PK)
Maine Coon
Order details
| Test number | 8718 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 3-14 working days |
Factor XI deficiency (F11)
Test specifications
| Symptom complex | hematologic |
| Inheritance | autosomal recessive |
| Causality | associated |
| Gene | F11 |
| Mutation | G-A |
| Literature | OMIA:000363-9685 |
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 |
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 |
