General description
LABOGenetics XXL Cat can screen your cat for more than 50 genetic variants. You will receive information on hereditary diseases, genetic risk factors, coat colours and coat characteristics. The determination of the genetic blood group is also included. LABOGenetics XXL Cat is available for cats of all breeds and mixes.
Order details
| Test number | 9330 |
| Sample material | 0.5 ml EDTA blood, 1x special swab (eNAT) |
| Test duration | 10-14 working days |
Congenital myasthenic syndrome (CMS)
Test specifications
| Symptom complex | muscular |
| Inheritance | autosomal recessive |
| Age of onset | 3 weeks |
| Causality | causally |
| Gene | COLQ |
| Mutation | C-T |
| Literature | OMIA:001621-9685 |
Progressive retinal atrophy (pd-PRA)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Age of onset | 5 weeks |
| Causality | causally |
| Gene | AIPL1 |
| Mutation | C-T |
| Literature | OMIA:001222-9685 |
Cystinuria
Test specifications
| Symptom complex | urological |
| Inheritance | autosomal recessive |
| Age of onset | young age |
| Causality | causally |
| Gene | SLC7A9 |
| Mutation | T-A |
| Literature | OMIA:002023-9685 |
Gangliosidosis (GM2)
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Age of onset | 3 months |
| Causality | causally |
| Gene | HEXB |
| Mutation | DEL |
| Literature | OMIA:001462-9685 |
Autoimmune lymphoproliferative syndrome (ALPS)
Test specifications
| Symptom complex | immunological |
| Inheritance | autosomal recessive |
| Age of onset | 8 weeks |
| Causality | causally |
| Gene | FASLG |
| Mutation | INS |
| Literature | OMIA:002064-9685 |
Hypertrophic cardiomyopathy (HCM4)
Test specifications
| Symptom complex | cardiac |
| Inheritance | autosomal dominant with incomplete penetrance |
| Age of onset | 1-14 years |
| Causality | causally |
| Gene | ALMS1 |
| Mutation | G-C |
| Literature | OMIA:002316-9685 |
Factor XI deficiency (F11)
Test specifications
| Symptom complex | hematologic |
| Inheritance | autosomal recessive |
| Causality | associated |
| Gene | F11 |
| Mutation | G-A |
| Literature | OMIA:000363-9685 |
Acrodermatitis enteropathica (AE)
Test specifications
| Symptom complex | dermatologic |
| Inheritance | autosomal recessive |
| Age of onset | 6-8 weeks |
| Causality | causally |
| Gene | SLC39A4 |
| Mutation | C-G |
| Literature | OMIA:000593-9685 |
Alpha-Mannosidosis (AMD)
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | MAN2B1 |
| Mutation | DEL |
| Literature | OMIA:000625-9685 |
MDR1 gene variant
Test specifications
| Symptom complex | metabolic |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | ABCB1 |
| Mutation | DEL |
| Literature | OMIA:001402-9685 |
Factor XII deficiency (F12)
Test specifications
| Symptom complex | hematologic |
| Inheritance | autosomal recessive |
| Causality | associated |
| Gene | F12 |
| Mutation | DEL |
| Literature | OMIA:000364-9685 |
Gangliosidosis (GM2)
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Age of onset | 2 months |
| Causality | causally |
| Gene | HEXB |
| Mutation | DEL |
| Literature | OMIA:001462-9685 |
Hypotrichosis and short life expectancy
Test specifications
| Symptom complex | systemic |
| Inheritance | autosomal recessive |
| Age of onset | from birth |
| Causality | causally |
| Gene | FOXN1 |
| Mutation | DEL |
| Literature | OMIA:001949-9685 |
Progressive retinal atrophy (b-PRA)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Age of onset | 7 weeks |
| Causality | causally |
| Gene | KIF3B |
| Mutation | C-T |
| Literature | OMIA:002267-9685 |
Osteochondrodysplasia (OCD)
Test specifications
| Symptom complex | skeletal |
| Inheritance | autosomal dominant |
| Causality | causally |
| Gene | TRPV4 |
| Mutation | C-A |
| Literature | OMIA:000319-9685 |
Primary congenital glaucoma (PCG)
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | autosomal recessive |
| Age of onset | from birth |
| Causality | causally |
| Gene | LTBP2 |
| Mutation | INS |
| Literature | OMIA:002017-9685 |
Hypokalaemia
Test specifications
| Symptom complex | muscular |
| Causality | causally |
| Gene | WNK4 |
| Mutation | C-T |
| Literature | OMIA:001759-9685 |
Gangliosidosis (GM1)
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Age of onset | 2 months |
| Causality | causally |
| Gene | GLB1 |
| Mutation | C-G |
| Literature | OMIA:000402-9685 |
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 |
Myotonia congenita
Test specifications
| Symptom complex | muscular |
| Causality | causally |
| Gene | CLCN1 |
| Mutation | G-T |
| Literature | OMIA:000698-9685 |
Head Defect
Test specifications
| Symptom complex | skeletal |
| Causality | causally |
| Gene | ALX1 |
| Mutation | DEL |
| Literature | OMIA:001551-9685 |
Mucopolysaccharidosis type VI (MPS6)
Test specifications
| Symptom complex | systemic |
| Causality | causally |
| Gene | ARSB |
| Mutation | A-G, C-T |
| Literature | OMIA:000666-9685 |
Mucopolysaccharidosis type VII (MPS7)
Test specifications
| Symptom complex | skeletal |
| Age of onset | 2 months |
| Causality | causally |
| Gene | GUSB |
| Mutation | G-A |
| Literature | OMIA:000667-9685 |
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 |
