【協(xié)和醫(yī)院】L1cam綜合征基因解碼基因檢測(cè)可以明確以下這些病的病因
兒科遺傳病基因檢測(cè)導(dǎo)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(jīng)內(nèi)科遺傳性疾病的基因病委托給佳學(xué)基因進(jìn)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(gè)疾病的臨床表征和眾多的疾病相重疊、相混淆。普通機(jī)構(gòu)只能檢測(cè)幾種疾病，賊多三、五千種。而佳學(xué)基因可以檢測(cè)四萬多種。看了L1cam綜合征基因解碼基因檢測(cè)，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(nèi)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(nèi)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(nèi)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(yùn)動(dòng)遲緩，拇指內(nèi)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(nèi)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(nèi)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(nèi)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(nèi)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(cè)的特點(diǎn)：
協(xié)和醫(yī)院各科主任大夫基本上都認(rèn)為基因檢測(cè)中如果采用選擇部分位點(diǎn)、采用數(shù)據(jù)庫比對(duì)的方式只能用來驗(yàn)證患者是否具有已報(bào)道過的致病基因位點(diǎn)。其二，基因解碼可以將表征復(fù)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(cè)疾病種類細(xì)致、全面，對(duì)患者十分負(fù)責(zé)。
(責(zé)任編輯：佳學(xué)基因)
