JumpHealth™遗传病筛查:14种疾病一次检测
JumpHealth™: 14 Genetic Diseases in One Test
产品与服务 / Product · 2026-08-03
JumpHealth™是GenoMatrix骏™(Jump™)系列的核心产品,通过一次基因检测筛查14种马属已知遗传病。
| 疾病 | 简称 | 影响品种 | 主要后果 |
| 高钾性周期性麻痹 | HYPP | 夸特马 | 肌肉震颤、瘫痪 |
| 遗传性马局部皮肤无力 | HERDA | 夸特马 | 皮肤撕裂 |
| 恶性高热 | MH | 多品种 | 麻醉下体温骤升 |
| 糖原分支酶缺乏症 | GBED | 夸特马 | 幼驹死亡 |
| I型多发性骨骺发育不良 | PSSM1 | 多品种 | 肌肉僵硬 |
| 严重混合免疫缺陷 | SCID | 阿拉伯马 | 免疫系统缺失 |
| 致命白驹综合征 | OLWS | 花马 | 幼驹肠道神经缺失 |
| 马小脑性共济失调 | CA | 阿拉伯马 | 运动协调障碍 |
| 交界性大疱性表皮松解症1型 | JEB1 | 比利时马 | 皮肤水泡 |
| 免疫介导性肌炎 | IMM | 夸特马 | 肌肉炎症 |
每种致病突变均同时具备rsID(dbSNP编号)和OMIA ID,确保检测结果可追溯至国际权威数据库。
JumpHealth™报告使用零预测词汇,用"风险""携带""参考基准"等中性表述,并附完整免责声明。
JumpHealth™ is the core product of GenoMatrix's Jump™ series, screening 14 known equine genetic diseases in a single test.
| Disease | Abbr. | Affected Breeds | Main Consequence |
| Hyperkalemic Periodic Paralysis | HYPP | Quarter Horse | Muscle tremors, paralysis |
| Hereditary Equine Regional Dermal Asthenia | HERDA | Quarter Horse | Skin tearing |
| Malignant Hyperthermia | MH | Multiple | Anesthesia-induced fever |
| Glycogen Branching Enzyme Deficiency | GBED | Quarter Horse | Foal death |
| Polysaccharide Storage Myopathy Type 1 | PSSM1 | Multiple | Muscle stiffness |
| Severe Combined Immunodeficiency | SCID | Arabian | Immune system failure |
| Overo Lethal White Syndrome | OLWS | Paint Horse | Foal intestinal failure |
| Cerebellar Abiotrophy | CA | Arabian | Motor coordination |
| Junctional Epidermolysis Bullosa 1 | JEB1 | Belgian | Skin blistering |
| Immune-Mediated Myositis | IMM | Quarter Horse | Muscle inflammation |
Each pathogenic mutation carries both rsID (dbSNP) and OMIA ID, ensuring traceability to international databases.
JumpHealth™ reports use zero predictive language, employing neutral terms such as "risk," "carrier," and "reference baseline," with full disclaimers.