JumpHealth™遗传病筛查:14种疾病一次检测

JumpHealth™: 14 Genetic Diseases in One Test

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.

DiseaseAbbr.Affected BreedsMain Consequence
Hyperkalemic Periodic ParalysisHYPPQuarter HorseMuscle tremors, paralysis
Hereditary Equine Regional Dermal AstheniaHERDAQuarter HorseSkin tearing
Malignant HyperthermiaMHMultipleAnesthesia-induced fever
Glycogen Branching Enzyme DeficiencyGBEDQuarter HorseFoal death
Polysaccharide Storage Myopathy Type 1PSSM1MultipleMuscle stiffness
Severe Combined ImmunodeficiencySCIDArabianImmune system failure
Overo Lethal White SyndromeOLWSPaint HorseFoal intestinal failure
Cerebellar AbiotrophyCAArabianMotor coordination
Junctional Epidermolysis Bullosa 1JEB1BelgianSkin blistering
Immune-Mediated MyositisIMMQuarter HorseMuscle 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.

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