【協(xié)和醫(yī)院】L1cam綜合征基因解碼基因檢測可以明確以下這些病的病因
兒科遺傳病基因檢測導讀：
協(xié)和醫(yī)院將L1cam綜合癥這種罕見病、即屬于兒科遺傳病，又屬于神經內科遺傳性疾病的基因病委托給佳學基因進行致病基因鑒定基因解碼，了解其中的原因后，大家驚呆了！這個疾病的臨床表征和眾多的疾病相重疊、相混淆。普通機構只能檢測幾種疾病，賊多三、五千種。而佳學基因可以檢測四萬多種?？戳薒1cam綜合征基因解碼基因檢測，大家就一下子全明白了。
| Masa綜合征 | Masa Syndrome |
| L1綜合征 | L1 Syndrome |
| CRASH綜合征 | Crash Syndrome |
| X連鎖腦積水綜合征 | X-Linked Hydrocephalus Syndrome |
| 痙攣性截癱1型 | Spastic Paraplegia 1 |
| 拇指內收伴智力低下 | Adducted Thumb with Mental Retardation |
| 拇指緊握與智力低下 | Clasped Thumb and Mental Retardation |
| 加雷斯-梅森綜合征 | Gareis-Mason Syndrome |
| Spg1型 | Spg1 |
| 胼胝體發(fā)育不全智力遲緩拇指內收痙攣性腦積水綜合征 | Corpus Callosum Hypoplasia-Retardation-Adducted Thumbs-Spasticity-Hydrocephalus Syndrome |
| X連鎖痙攣性截癱1型 | Spastic Paraplegia 1, X-Linked |
| L1cam綜合征 | L1cam Syndrome |
| 胼胝體發(fā)育不全、智力低下、拇指內收、痙攣性截癱、腦積水綜合征 | Corpus Callosum Hypoplasia, Mental Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus Syndrome |
| 胼胝體發(fā)育不全精神運動遲緩，拇指內收痙攣性腦積水 | Corpus Callosum Hypoplasia-Psychomotor Retardation, Adducted Thumbs-Spastic Paraparesis-Hydrocephalus |
| 智力低下、失語癥、步態(tài)不穩(wěn)和拇指內收綜合征 | Mental Retardation, Aphasia, Shuffling Gait, and Adducted Thumbs Syndrome |
| 智障失語癥步態(tài)不穩(wěn)拇指內收綜合征 | Intellectual Disability-Aphasia-Shuffling Gait-Adducted Thumbs Syndrome |
| 智力低下，失語癥，步態(tài)不穩(wěn)，拇指內收 | Mental Retardation, Aphasia, Shuffling Gait, and Adducted Thumbs |
| X連鎖遺傳性1型痙攣性截癱 | X-Linked Complicated Hereditary Spastic Paraplegia Type 1 |
| 智障性失語癥 | Mental Retardation Aphasia Shuffling Gait Adducted Thumbs |
| 先天性緊握拇指伴智力低下 | Thumb, Congenital Clasped, with Mental Retardation |
| 先天性拇指緊扣伴智力低下 | Thumb Congenital Clasped with Mental Retardation |
| 拇指內收智力低下綜合征 | Adducted Thumbs-Mental Retardation Syndrome |
| 智障夾拇指綜合征 | Mental Retardation-Clasped Thumb Syndrome |
| X連鎖痙攣性截癱1型Spg1 | Spastic Paraplegia 1, X-Linked; Spg1 |
| X連鎖痙攣性截癱1型 | Spastic Paraplegia Type 1, X-Linked |
| X連鎖胼胝體發(fā)育不全 | X-Linked Corpus Callosum Agenesis |
| 遺傳性痙攣性截癱1型 | Hereditary Spastic Paraplegia 1 |
| X連鎖痙攣性截癱1型 | X-Linked Spastic Paraplegia 1 |
| Masa綜合征 | Masa Syndrome |
| L1譜系病 | L1 Spectrum |
| L1病 | L1 Disease |
| Crash | Crash |
| Masa | Masa |
協(xié)和醫(yī)院兒科遺傳病基因檢測的特點：
協(xié)和醫(yī)院各科主任大夫基本上都認為基因檢測中如果采用選擇部分位點、采用數據庫比對的方式只能用來驗證患者是否具有已報道過的致病基因位點。其二，基因解碼可以將表征復雜、臨床征狀重疊的疾病區(qū)分開來。協(xié)和醫(yī)院選擇的基因檢測疾病種類細致、全面，對患者十分負責。
(責任編輯：佳學基因)
