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|
货号 |
中文描述 |
英文描述 |
规格 |
A054 |
|
SALSA MLPA A054 Campylobacter MBiT mix 1 probemix |
25/50/100R |
A055 |
|
SALSA MLPA A055 Campylobacter MBiT mix 2 probemix |
25/50/100R |
ME001 |
肿瘤抑制基因-1 |
SALSA MLPA ME001 Tumor sup.-1 probemix |
25/50/100R |
ME002 |
肿瘤抑制基因-2 |
SALSA MLPA ME002 Tumor sup.-2 probemix |
25/50/100R |
ME004 |
肿瘤抑制基因-4 |
SALSA MLPA ME004 Tumor sup.-4 probemix |
25/50/100R |
ME011 |
错配修复基因 |
SALSA MLPA ME011 MMR probemix |
25/50/100R |
ME024 |
肿瘤，皮肤黑色素瘤 |
SALSA MLPA ME024 9p21 probemix |
25/50/100R |
ME028 |
普瑞德威利症候群 （PWS），安琪儿/天使人综合症 （AS） |
SALSA MLPA ME028 PWS/AS probemix |
25/50/100R |
ME029 |
脆性X染色体 |
SALSA MLPA ME029 FMR1/AFF2 probemix |
25/50/100R |
ME030 |
Beckwith-wiedemann综合征（BWS），侏儒综合征（RSS） |
SALSA MLPA ME030 BWS/RSS probemix |
25/50/100R |
ME031 |
假性甲状旁腺机能减退（PHP）、澳氏遗传性骨营养不良症（AHO） |
SALSA MLPA ME031 GNAS probemix |
25/50/100R |
ME032 |
|
SALSA MLPA ME032 UPD7-UPD14 probemix |
25/50/100R |
ME033 |
|
SALSA MLPA ME033 TNDM probemix |
25/50/100R |
ME042 |
|
SALSA MLPA ME042 CIMP probemix |
25/50/100R |
ME043 |
|
SALSA MLPA ME043 Lynch Syndrome probemix |
25/50/100R |
P002 |
遗传性乳腺癌 |
SALSA MLPA P002 BRCA1 probemix |
25/50/100R |
P003 |
非息肉性结肠癌 |
SALSA MLPA P003 MLH1/MSH2 probemix |
25/50/100R |
P004 |
|
SALSA MLPA P004 ERBB2 probemix |
25/50/100R |
P008 |
Lynch综合征 |
SALSA MLPA P008 PMS2 probemix |
25/50/100R |
P010 |
线粒体维护 |
SALSA MLPA P010 POLG probemix |
25/50/100R |
P011 |
血管性血友病/Von Willebrand病（VWD）1 |
SALSA MLPA P011 VWF mix 1 probemix |
25/50/100R |
P012 |
血管性血友病/Von Willebrand病（VWD）2 |
SALSA MLPA P012 VWF mix 2 probemix |
25/50/100R |
P013 |
α地中海贫血/智力低下 |
SALSA MLPA P013 ATRX probemix |
25/50/100R |
P014 |
肿瘤研究 |
SALSA MLPA P014 Chromosome 8 probemix |
25/50/100R |
P015 |
RETT综合征 |
SALSA MLPA P015 MECP2 probemix |
25/50/100R |
P016 |
林岛综合征，视网膜和中枢神经血管母细胞瘤病，VHL综合征 |
SALSA MLPA P016 VHL probemix |
25/50/100R |
P017 |
多发性内分泌肿瘤 |
SALSA MLPA P017 MEN1 probemix |
25/50/100R |
P018 |
特发性发育迟缓 |
SALSA MLPA P018 SHOX probemix |
25/50/100R |
P021 |
脊髓性肌肉萎缩症（SMA） |
SALSA MLPA P021 SMA probemix |
25/50/100R |
P022 |
Pelizaeus-Merzbacher病（PMD）、佩梅病 |
SALSA MLPA P022 PLP1 probemix |
25/50/100R |
P025 |
海绵状脑白质营养不良症 |
SALSA MLPA P025 Canavan probemix |
25/50/100R |
P026 |
索托斯综合征(脑性巨大发育综合征) |
SALSA MLPA P026 Sotos probemix |
25/50/100R |
P027 |
葡萄膜黑色素瘤 |
SALSA MLPA P027 Uveal probemix |
25/50/100R |
P028 |
淋巴组织细胞增生症(家族性) |
SALSA MLPA P028 FHL probemix |
25/50/100R |
P029 |
|
SALSA MLPA P029 WBS probemix |
25/50/100R |
P031 |
范科尼氏贫血症（FA）1 |
SALSA MLPA P031 FANCA mix 1 probemix |
25/50/100R |
P032 |
范科尼氏贫血症（FA）2 |
SALSA MLPA P032 FANCA mix 2 probemix |
25/50/100R |
P033 |
腓骨肌萎缩症 |
SALSA MLPA P033 CMT1 probemix |
25/50/100R |
P034 |
杜氏肌营养不良症（DMD1） |
SALSA MLPA P034 DMD-1 probemix |
25/50/100R |
P035 |
杜氏肌营养不良症（DMD2） |
SALSA MLPA P035 DMD-2 probemix |
25/50/100R |
P036 |
广泛的端粒筛查-3 |
SALSA MLPA P036 Subtelomeres Mix 1 probemix |
25/50/100R |
P037 |
慢性淋巴细胞白血病（CLL）1 |
SALSA MLPA P037 CLL-1 probemix |
25/50/100R |
P038 |
慢性淋巴细胞白血病（CLL）2 |
SALSA MLPA P038 CLL-2 probemix |
25/50/100R |
P040 |
慢性淋巴细胞白血病（CLL） |
SALSA MLPA P040 CLL probemix |
25/50/100R |
P041 |
共济失调毛细血管扩张症（AT）1 |
SALSA MLPA P041 ATM-1 probemix |
25/50/100R |
P042 |
共济失调毛细血管扩张症（AT）2 |
SALSA MLPA P042 ATM-2 probemix |
25/50/100R |
P043 |
息肉性结肠癌 |
SALSA MLPA P043 APC probemix |
25/50/100R |
P044 |
神经纤维瘤病（NF2） |
SALSA MLPA P044 NF2 probemix |
25/50/100R |
P045 |
遗传性乳腺癌 |
SALSA MLPA P045 BRCA2/CHEK2 probemix |
25/50/100R |
P046 |
结节性硬化症 |
SALSA MLPA P046 TSC2 probemix |
25/50/100R |
P047 |
成视网膜细胞瘤（RB） |
SALSA MLPA P047 RB1 probemix |
25/50/100R |
P048 |
肢带型肌营养不良，肌原纤维肌病 |
SALSA MLPA P048 LMNA/MYOT probemix |
25/50/100R |
P049 |
肌酸转运蛋白，X-连锁 |
SALSA MLPA P049 SLC6A8 - ABCD1 probemix |
25/50/100R |
P050 |
先天性肾上腺增生症 |
SALSA MLPA P050 CAH probemix |
25/50/100R |
P051 |
帕金森病-1 |
SALSA MLPA P051 Parkinson mix 1 probemix |
25/50/100R |
P052 |
帕金森病-2 |
SALSA MLPA P052 Parkinson mix 2 probemix |
25/50/100R |
P054 |
眼科遗传性异常 |
SALSA MLPA P054 FOXL2 TWIST1 probemix |
25/50/100R |
P055 |
|
SALSA MLPA P055 PAH probemix |
25/50/100R |
P056 |
李佛美尼综合症（LFS） |
SALSA MLPA P056 TP53 probemix |
25/50/100R |
P057 |
|
SALSA MLPA P057 FANCD2-PALB2 probemix |
25/50/100R |
P058 |
远端脊肌萎缩症1型（DSMA1），SMARD1，dHMN6 |
SALSA MLPA P058 IGHMBP2 probemix |
25/50/100R |
P059 |
肌张力障碍 |
SALSA MLPA P059 Dystonia probemix |
25/50/100R |
P060 |
脊髓性肌肉萎缩症（SMA） |
SALSA MLPA P060 SMA probemix |
25/50/100R |
P061 |
无脑回畸形 |
SALSA MLPA P061 Lissencephaly probemix |
25/50/100R |
P062 |
|
SALSA MLPA P062 LDLR probemix |
25/50/100R |
P063 |
|
SALSA MLPA P063 FHIT-WWOX probemix |
25/50/100R |
P064 |
智力低下， 3P-缺失，Williams, Smith- Magenis, Miller-Dieker, DiGeorge, Prader-Willi, Alagille, Saethre-Chotzen, Sotos |
SALSA MLPA P064 MR-1 probemix |
25/50/100R |
P065 |
马凡氏综合征-1 |
SALSA MLPA P065 Marfan-1 probemix |
25/50/100R |
P066 |
马凡氏综合征-2 |
SALSA MLPA P066 Marfan-2 probemix |
25/50/100R |
P067 |
高林综合征（面耳脊柱病） |
SALSA MLPA P067 PTCH probemix |
25/50/100R |
P068 |
线粒体3-羟基-3-甲基辅酶A合酶（mHMGS） |
SALSA MLPA P068 HMGCS2 probemix |
25/50/100R |
P069 |
广泛的端粒筛查-4 |
SALSA MLPA P069 Subtelomeres Mix 2A probemix |
25/50/100R |
P070 |
广泛的端粒筛查-5 |
SALSA MLPA P070 Subtelomeres Mix 2B probemix |
25/50/100R |
P071 |
脑白质营养不良 |
SALSA MLPA P071 LMNB1 PLP1 probemix |
25/50/100R |
P072 |
非息肉性结肠癌 |
SALSA MLPA P072 MSH6 probemix |
25/50/100R |
P074 |
雄激素不敏感综合征（AIS） |
SALSA MLPA P074 AR probemix |
25/50/100R |
P075 |
|
SALSA MLPA P075 TCF4 FOXG1 probemix |
25/50/100R |
P076 |
原发性肉碱/VLCAD |
SALSA MLPA P076 ACADVL-SLC22A5 probemix |
25/50/100R |
P077 |
遗传性乳腺癌 |
SALSA MLPA P077 BRCA2 probemix |
25/50/100R |
P078 |
乳腺癌 |
SALSA MLPA P078 Breast tumor probemix |
25/50/100R |
P079 |
鸟氨酸氨基甲酰转移酶（OTC） |
SALSA MLPA P079 OTC probemix |
25/50/100R |
P080 |
颅面疾病 |
SALSA MLPA P080 Craniofacial probemix |
25/50/100R |
P081 |
神经纤维瘤病-1 |
SALSA MLPA P081 NF1 mix 1 probemix |
25/50/100R |
P082 |
神经纤维瘤病-2 |
SALSA MLPA P082 NF1 mix 2 probemix |
25/50/100R |
P083 |
上皮-钙粘连素/CDH1基因 |
SALSA MLPA P083 CDH1 probemix |
25/50/100R |
P087 |
遗传性乳腺癌 |
SALSA MLPA P087 BRCA1 probemix |
25/50/100R |
P088 |
少突神经胶质瘤 |
SALSA MLPA P088 Glioma-1 probemix |
25/50/100R |
P089 |
线粒体DNA耗竭综合征 |
SALSA MLPA P089 TK2 probemix |
25/50/100R |
P090 |
遗传性乳腺癌 |
SALSA MLPA P090 BRCA2 probemix |
25/50/100R |
P091 |
|
SALSA MLPA P091 CFTR probemix |
25/50/100R |
P092 |
弹力纤维性假黄瘤 |
SALSA MLPA P092 ABCC6 probemix |
25/50/100R |
P093 |
毛细血管扩张症（HHT），原发性肺动脉高压（PPH1） |
SALSA MLPA P093 HHT/PPH1 probemix |
25/50/100R |
P094 |
地中海热（MEFV） |
SALSA MLPA P094 MEFV probemix |
25/50/100R |
P095 |
唐氏综合症，爱德华综合症，帕韬氏综合症（13,18,21,X,Y） |
SALSA MLPA P095 Aneuploidy probemix |
25/50/100R |
P096 |
智力低下 |
SALSA MLPA P096 MR-2 probemix |
25/50/100R |
P098 |
|
SALSA MLPA P098 Wilson probemix |
25/50/100R |
P099 |
肌张力障碍、濑川氏病、肌阵挛 -肌张力障碍综合征 |
SALSA MLPA P099 GCH1 TH-SGCE probemix |
25/50/100R |
P100 |
肥厚型心肌病(家族性) |
SALSA MLPA P100 MYBPC3 probemix |
25/50/100R |
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