General description
includes the following tests: Congenital hypothyroidism with goiter (CHG), Primary lens luxation (PLL), Spinocerebellar ataxia (SCA), Van den Ende-Gupta syndrome (VDEGS)
Fox Terrier, Toy Fox Terrier
Order details
| Test number | 8834 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Primary lens luxation (PLL)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive; the literature describes that 2-20% of PLL carriers (N/PLL) develop PLL in the course of their lives. Carriers therefore have an (albeit low) risk of developing PLL. |
| Age of onset | 3-8 years |
| Causality | causally |
| Gene | ADAMTS17 |
| Mutation | G-A |
| Literature | OMIA:000588-9615 |
van den Ende-Gupta syndrome (VDEGS)
Test specifications
| Symptom complex | skeletal |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | SCARF2 |
| Mutation | DEL |
| Literature | OMIA:002016-9615 |
