General description
includes (15 euro patent fee for DM exon 2): Degenerative myelopathy (DM exon 2), Neuronal ceroid lipofuscinosis (NCL), Primary lens luxation (PLL), Pituitary dwarfism and Progressive retinal atrophy (rcd4-PRA).
Tibetan Terrier
Order details
Test number | 8679 |
Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
Test duration | 7-14 working days |
Degenerative myelopathy exon 2 (DM exon 2)
Test specifications
Symptom complex | neuromuscular |
Inheritance | autosomal recessive with age-dependent incomplete penetrance; a risk factor associated with DM is detected. |
Age of onset | ab 8 years |
Causality | High-risk factor |
Gene | SOD1 |
Mutation | G-A |
Literature | OMIA:000263-9615 |
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 |
Progressive retinal atrophy (PRA3)
Test specifications
Symptom complex | ophthalmic |
Inheritance | autosomal recessive |
Age of onset | 5 years |
Causality | causally |
Gene | FAM161A |
Mutation | INS |
Literature | OMIA:001918-9615 |
Progressive retinal atrophy (rcd4-PRA)
Test specifications
Symptom complex | ophthalmic |
Inheritance | autosomal recessive |
Age of onset | 5-12 years |
Causality | causally |
Gene | PCARE |
Mutation | INS |
Literature | OMIA:001575-9615 |