Extended package of genetic tests for prevention of genetic health in Rhodesian Ridgebacks. Includes optional testing for very rare conditions (MH, HEMB) and the Inherited Ventricular Arrhythmia test (RRIVA) with limited clinical value.
The package includes genetic tests:
- Predisposition for Ridge (RIDGE)
- Juvenile Myoclonic Epilepsy (JME)
- Malignant hyperthermia (MH)
- Degenerative Myelopathy (DM)
- D-Locus (DLOK)
- B-Locus (BLOK)
- Haemophilia B (HEMB)
- Early Onset Hearing Loss (EOAD)
- Inherited Ventricular Arrhythmia (RRIVA)
Please note that results will be available within 2-3 weeks after delivery of the sample to the laboratory.
Gene and tested mutations/variants
RIDGE:133 kb duplikace zahrnující geny (FGF3,FGF4, FGF19 a ORAOV1); JME:DIRAS1, c.564_567delAGAC;MH:RYR1, c.1640T>C;DM:SOD1, exon 2; DLOK:.MLPH, c.-22G>A; BLOK:TYRP1, (bs - c.991C>T; bc - c.121T>A; bd - c.1033_1035del); HEMB:F9, c.731G>A (OMIA 000438-9615) ± 25 párů bazí; EOAD:EPS8L2, chr18:g.25868739-25868751del, QIL1, chr20: g.54343438G>A
