General description
includes: PSSM, HERDA, GBED, CA and SCID
Arabian Horse, Quarab, Quarter Horse
Order details
| Test number | 8372 |
| Sample material | 0.5 ml EDTA blood, mane/tail hair roots |
| Test duration | 7-14 working days |
Glycogen branching enzyme deficiency (GBED)
Test specifications
| Symptom complex | systemic |
| Inheritance | autosomal recessive |
| Age of onset | from birth |
| Causality | causally |
| Literature | OMIA:000420-9796 |
Polysaccharid storage myopathy type 1 (PSSM)
Test specifications
| Symptom complex | muscular |
| Inheritance | autosomal dominant |
| Causality | causally |
| Literature | OMIA:001158-9796 |
Hereditary eqine regional dermal asthenia (HERDA)
Test specifications
| Symptom complex | dermatologic |
| Inheritance | autosomal recessive |
| Causality | causally |
| Literature | OMIA:000327-9796 |
Cerebellar abiotrophy (CA)
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Age of onset | 6 weeks - 4 months |
| Causality | causally |
| Literature | OMIA:000175-9796 |
Severe combined immunodeficiency (SCID)
Test specifications
| Symptom complex | immunological |
| Inheritance | autosomal recessive |
| Age of onset | 10 days -2 months |
| Causality | causally |
| Literature | OMIA:000220-9796 |