P201 |
|
SALSA MLPA P201 Charge probemix |
25/50/100R |
P202 |
急性淋巴细胞白血病(ALL),慢性髓细胞性白血病 |
SALSA MLPA P202 IKZF1 (IKAROS) probemix |
25/50/100R |
P203 |
溶血性贫血 |
SALSA MLPA P203 PKLR probemix |
25/50/100R |
P205 |
邓肯病、X连锁的淋巴细胞增生综合征 |
SALSA MLPA P205 XLP probemix |
25/50/100R |
P207 |
凝血因子IX缺乏,圣诞疾病(B型血友病)、血友病 |
SALSA MLPA P207 F9 probemix |
25/50/100R |
P208 |
亚端粒筛选-6 |
SALSA MLPA P208 Telomere-6 probemix |
25/50/100R |
P209 |
|
SALSA MLPA P209 GLDC probemix |
25/50/100R |
P210 |
无丙种球蛋白血症 |
SALSA MLPA P210 BTK probemix |
25/50/100R |
P211 |
痉挛性截瘫(HSPs)区域 |
SALSA MLPA P211 HSP region probemix |
25/50/100R |
P212 |
贫血 |
SALSA MLPA P212 DBA probemix |
25/50/100R |
P213 |
痉挛性截瘫(HSPs) |
SALSA MLPA P213 HSP2 probemix |
25/50/100R |
P214 |
骨骼疾病,软骨成长不全 ,软骨发育异常,早发家族性关节炎,先天性SED,Langer-Saldino软骨成长不全,Kniest发育不良,斯蒂克勒综合征,脊椎干骺端发育不良 |
SALSA MLPA P214 COL2A1 probemix |
25/50/100R |
P215 |
多骨软骨瘤 |
SALSA MLPA P215 EXT probemix |
25/50/100R |
P216 |
生长激素缺乏症(GHD) |
SALSA MLPA P216 GHD mix1 probemix |
25/50/100R |
P217 |
类胰岛素生长因子1受体(IGF1R) |
SALSA MLPA P217 IGF1R probemix |
25/50/100R |
P217 |
类胰岛素生长因子1受体(IGF1R) |
SALSA MLPA P217 IGF1R probemix |
25/50/100R |
P217 |
类胰岛素生长因子1受体(IGF1R) |
SALSA MLPA P217 IGF1R probemix |
25/50/100R |
P218 |
脂酶缺乏症 |
SALSA MLPA P218 LPL probemix |
25/50/100R |
P219 |
眼部畸形 |
SALSA MLPA P219 PAX6 probemix |
25/50/100R |
P220 |
肥胖 |
SALSA MLPA P220 Obesity probemix |
25/50/100R |
P221 |
勒伯尔氏先天性黑蒙1 |
SALSA MLPA P221 LCA mix-1 probemix |
25/50/100R |
P222 |
勒伯尔先天性黑蒙(LCA)2 |
SALSA MLPA P222 LCA mix-2 probemix |
25/50/100R |
P223 |
低磷血 |
SALSA MLPA P223 PHEX probemix |
25/50/100R |
P224 |
肥胖,II型糖尿病,III型家族性局部脂肪代谢障碍,结肠癌 |
SALSA MLPA P224 PPARG probemix |
25/50/100R |
P225 |
癌症 |
SALSA MLPA P225 PTEN probemix |
25/50/100R |
P226 |
嗜铬细胞瘤 |
SALSA MLPA P226 SDHD probemix |
25/50/100R |
P227 |
抗凝血酶III缺乏症 |
SALSA MLPA P227 SerpinC1 probemix |
25/50/100R |
P228 |
Langer-Giedion综合征 |
SALSA MLPA P228 TRPS1 EXT1 probemix |
25/50/100R |
P229 |
黄斑营养不良 |
SALSA MLPA P229 OPA1 probemix |
25/50/100R |
P230 |
亚端粒筛选-7 |
SALSA MLPA P230 Telomere-7 probemix |
25/50/100R |
P231 |
Lacrimoauriculodentodigital综合征(LADD) |
SALSA MLPA P231 FGF10 FGFR2 probemix |
25/50/100R |
P232 |
面生殖发育异常(FGDY),Aarskog-Scott综合征,阿斯综合征 |
SALSA MLPA P232 FGD1 probemix |
25/50/100R |
P233 |
|
SALSA MLPA P233 MID1 probemix |
25/50/100R |
P234 |
心脏室间隔缺损 |
SALSA MLPA P234 GATA4 probemix |
25/50/100R |
P235 |
色素性视网膜炎 |
SALSA MLPA P235 Retinitis probemix |
25/50/100R |
P236 |
年龄相关性黄斑变性(ARMD) |
SALSA MLPA P236 ARMD mix-1 probemix |
25/50/100R |
P237 |
纤毛运动障碍(PCD) |
SALSA MLPA P237 DNAI1 probemix |
25/50/100R |
P238 |
纤毛运动障碍(PCD) |
SALSA MLPA P238 DNAH5 probemix |
25/50/100R |
P239 |
乳腺癌 |
SALSA MLPA P239 BRCA1 region probemix |
25/50/100R |
P240 |
|
SALSA MLPA P240 BRIP1/CHEK1 probemix |
25/50/100R |
P241 |
青春晚期糖尿病(MODY) |
SALSA MLPA P241 MODY probemix |
25/50/100R |
P242 |
胰腺炎(HP) |
SALSA MLPA P242 Pancreatitis probemix |
25/50/100R |
P243 |
血管水肿(HAE) |
SALSA MLPA P243 SERPING1 probemix |
25/50/100R |
P244 |
多发性内分泌肿瘤 |
SALSA MLPA P244 AIP-MEN1 probemix |
25/50/100R |
P245 |
微缺失综合征-1 |
SALSA MLPA P245 Microdeletion-1 probemix |
25/50/100R |
P247 |
趋化因子 |
SALSA MLPA P247 Chemokine-2 probemix |
25/50/100R |
P248 |
遗传型非息肉瘤结肠癌(HNPCC) |
SALSA MLPA P248 MLH1 MSH2 probemix |
25/50/100R |
P249 |
亚端粒筛选-8 |
SALSA MLPA P249 Telomere-8 probemix |
25/50/100R |
P250 |
DiGeorge 综合征 |
SALSA MLPA P250 DiGeorge probemix |
25/50/100R |
P251 |
神经母细胞瘤-1 |
SALSA MLPA P251 NB mix 1 probemix |
25/50/100R |
P252 |
神经母细胞瘤-2 |
SALSA MLPA P252 NB mix 2 probemix |
25/50/100R |
P253 |
神经母细胞瘤-3 |
SALSA MLPA P253 NB mix 3 probemix |
25/50/100R |
P254 |
阿尔茨海默病/老年痴呆症 |
SALSA MLPA P254 PSEN1 probemix |
25/50/100R |
P255 |
果糖不耐症 |
SALSA MLPA P255 ALDOB probemix |
25/50/100R |
P256 |
Birt-Hogg-Dube综合征,BHD综合征 |
SALSA MLPA P256 FLCN probemix |
25/50/100R |
P257 |
先天性角化不良(DC) |
SALSA MLPA P257 TERT-DKC1 probemix |
25/50/100R |
P258 |
横纹肌样瘤 |
SALSA MLPA P258 SMARCB1 probemix |
25/50/100R |
P259 |
|
SALSA MLPA P259 RPS6KA3 probemix |
25/50/100R |
P260 |
范科尼氏贫血症 |
SALSA MLPA P260 PALB2-RAD50-RAD51C probemix |
25/50/100R |
P262 |
生长激素不敏感 |
SALSA MLPA P262 GHI probemix |
25/50/100R |
P264 |
亚端粒筛选-9 |
SALSA MLPA P264 Telomere-9 probemix |
25/50/100R |
P265 |
蛋白C缺乏症(PROC) |
SALSA MLPA P265 PROC probemix |
25/50/100R |
P266 |
Bartter综合征 |
SALSA MLPA P266 CLCNKB probemix |
25/50/100R |
P267 |
|
SALSA MLPA P267 Dandy-Walker probemix |
25/50/100R |
P268 |
肢带肌营养不良症(LGMD) |
SALSA MLPA P268 DYSF probemix |
25/50/100R |
P269 |
先天性眼震 |
SALSA MLPA P269 FRMD7 probemix |
25/50/100R |
P271 |
成骨不全症(OI) |
SALSA MLPA P271 COL1A1 probemix |
25/50/100R |
P272 |
成骨不全症(OI) |
SALSA MLPA P272 COL1A2 probemix |
25/50/100R |
P274 |
惊跳病,过度惊骇 |
SALSA MLPA P274 Startle disease probemix |
25/50/100R |
P275 |
匹克氏病,阿尔茨海默氏症,额颞叶痴呆症,皮层基底节变性,进行性核上性麻痹 |
SALSA MLPA P275 MAPT-GRN probemix |
25/50/100R |
P277 |
亚端粒筛选-10 |
SALSA MLPA P277 Telomere-10 probemix |
25/50/100R |
P278 |
丙酸血症 |
SALSA MLPA P278 PCCA probemix |
25/50/100R |
P279 |
偏瘫性偏头痛 |
SALSA MLPA P279 CACNA1A probemix |
25/50/100R |
P280 |
Pendred综合征 |
SALSA MLPA P280 SLC26A4 probemix |
25/50/100R |
P281 |
恶性高热(MH) |
SALSA MLPA P281 RYR1 mix 1 probemix |
25/50/100R |
P282 |
恶性高热(MH) |
SALSA MLPA P282 RYR1 mix 2 probemix |
25/50/100R |
P283 |
硫嘌呤甲基转移酶 |
SALSA MLPA P283 TPMT probemix |
25/50/100R |
P285 |
骨质疏松症-假神经胶质瘤综合征(OPPS) |
SALSA MLPA P285 LRP5 probemix |
25/50/100R |
P286 |
亚端粒筛选-11 |
SALSA MLPA P286 Telomere-11 probemix |
25/50/100R |
P289 |
指甲髌骨综合征(NPS) |
SALSA MLPA P289 LMX1B probemix |
25/50/100R |
P290 |
产前微缺失筛查 |
SALSA MLPA P290 Prenatal probemix |
25/50/100R |
P291 |
亚端粒筛选-12 |
SALSA MLPA P291 Telomere-12 probemix |
25/50/100R |
P292 |
尤塞氏综合症 |
SALSA MLPA P292 PCDH15 probemix |
25/50/100R |
P294 |
肿瘤,缺失 |
SALSA MLPA P294 Tumour-Loss probemix |
25/50/100R |
P295 |
SPRED1 |
SALSA MLPA P295 SPRED1 probemix |
25/50/100R |
P296 |
溶血性尿毒症综合征 |
SALSA MLPA P296 aHUS probemix |
25/50/100R |
P297 |
微缺失综合征-2 |
SALSA MLPA P297 Microdeletion-2 probemix |
25/50/100R |
P300 |
参照探针及质控片段(人) |
SALSA MLPA P300 Reference-2 probemix |
25/50/100R |