P301 |
髓母细胞瘤 |
SALSA MLPA P301 Medulloblastoma mix 1 probemix |
25/50/100R |
P302 |
髓母细胞瘤 |
SALSA MLPA P302 Medulloblastoma mix 2 probemix |
25/50/100R |
P303 |
髓母细胞瘤 |
SALSA MLPA P303 Medulloblastoma mix 3 probemix |
25/50/100R |
P304 |
唇裂与腭裂综合征、Van der Woude综合征(VWS) |
SALSA MLPA P304 IRF6 probemix |
25/50/100R |
P305 |
高草酸尿症,1型(PH1)与2型(PH2) |
SALSA MLPA P305 AGXT probemix |
25/50/100R |
P306 |
痉挛性截瘫(HSP或SPG) |
SALSA MLPA P306 SPG11 probemix |
25/50/100R |
P307 |
遗传性神经痛肌肉萎缩(HNA) |
SALSA MLPA P307 SEPT9 probemix |
25/50/100R |
P308 |
|
SALSA MLPA P308 MET probemix |
25/50/100R |
P309 |
肌小管性肌病,X-连锁的肌小管性肌病(XLMTM) |
SALSA MLPA P309 MTM1 probemix |
25/50/100R |
P310 |
|
SALSA MLPA P310 TCOF1 probemix |
25/50/100R |
P311 |
先天性心脏病(冠心病) |
SALSA MLPA P311 CHD probemix |
25/50/100R |
P312 |
先天性肾上腺皮质增生症 |
SALSA MLPA P312 POR probemix |
25/50/100R |
P313 |
大拇指综合征、Rubinstein–Taybi综合征(RSTS) |
SALSA MLPA P313 CREBBP probemix |
25/50/100R |
P315 |
实体瘤 |
SALSA MLPA P315 EGFR probemix |
25/50/100R |
P316 |
共济失调 |
SALSA MLPA P316 Ataxias probemix |
25/50/100R |
P318 |
先天性巨结肠症-2 |
SALSA MLPA P318 Hirschsprung-2 probemix |
25/50/100R |
P319 |
|
SALSA MLPA P319 Thyroid probemix |
25/50/100R |
P320 |
亚端粒筛选-13 |
SALSA MLPA P320 Telomere-13 probemix |
25/50/100R |
P321 |
科恩综合征1 |
SALSA MLPA P321 VPS13B mix 1 probemix |
25/50/100R |
P322 |
科恩综合征2 |
SALSA MLPA P322 VPS13B mix 2 probemix |
25/50/100R |
P323 |
肉瘤和其他类型的肿瘤 |
SALSA MLPA P323 CDK4 HMGA2 MDM2 probemix |
25/50/100R |
P324 |
22q11 |
SALSA MLPA P324 22q11 mix-2 probemix |
25/50/100R |
P325 |
眼皮肤白化病 |
SALSA MLPA P325 OCA2 probemix |
25/50/100R |
P326 |
|
SALSA MLPA P326 LARGE probemix |
25/50/100R |
P327 |
急性淋巴细胞白血病(ALL),iAMP21 |
SALSA MLPA P327 iAMP21 probemix |
25/50/100R |
P328 |
|
SALSA MLPA P328 EYS probemix |
25/50/100R |
P329 |
急性淋巴细胞白血病(ALL) |
SALSA MLPA P329 CRLF2 probemix |
25/50/100R |
P330 |
癫痫(EFMR) |
SALSA MLPA P330 PCDH19 probemix |
25/50/100R |
P331 |
松皮症、埃勒斯-当洛综合征 |
SALSA MLPA P331 COL5A1 MIX-1 probemix |
25/50/100R |
P332 |
松皮症、埃勒斯-当洛综合征 |
SALSA MLPA P332 COL5A1 MIX2 probemix |
25/50/100R |
P333 |
Rubinstein–Taybi综合征(RSTS)、大拇指综合征 |
SALSA MLPA P333 EP300 probemix |
25/50/100R |
P334 |
性腺发育障碍 |
SALSA MLPA P334 Gonadal probemix |
25/50/100R |
P335 |
急性淋巴细胞白血病(ALL) |
SALSA MLPA P335 ALL-IKZF1 probemix |
25/50/100R |
P336 |
天使人综合症、安琪儿 |
SALSA MLPA P336 UBE3A probemix |
25/50/100R |
P337 |
结节性硬化症 |
SALSA MLPA P337 TSC2 probemix |
25/50/100R |
P339 |
自闭症谱系障碍 |
SALSA MLPA P339 SHANK3 probemix |
25/50/100R |
P340 |
kleefstra综合征 |
SALSA MLPA P340 EHMT1 probemix |
25/50/100R |
P341 |
多囊肾病 |
SALSA MLPA P341 PKHD1 mix 1 probemix |
25/50/100R |
P342 |
多囊肾病 |
SALSA MLPA P342 PKHD1 mix 2 probemix |
25/50/100R |
P343 |
自闭症 |
SALSA MLPA P343 Autism-1 probemix |
25/50/100R |
P344 |
|
SALSA MLPA P344 SULT1A1 probemix |
25/50/100R |
P347 |
血色病(HH) |
SALSA MLPA P347 Hemochromatosis probemix |
25/50/100R |
P348 |
|
SALSA MLPA P348 ATP1A2 CACNA1A probemix |
25/50/100R |
P350 |
先天性肌强直,汤姆生氏病,贝克氏病, Andersen-Tawil综合症 |
SALSA MLPA P350 CLCN1 KCNJ2 probemix |
25/50/100R |
P351 |
成人多囊肾病 |
SALSA MLPA P351 PKD1 probemix |
25/50/100R |
P352 |
成人多囊肾病 |
SALSA MLPA P352 PKD1 PKD2 probemix |
25/50/100R |
P353 |
|
SALSA MLPA P353 CMT4 probemix |
25/50/100R |
P354 |
|
SALSA MLPA P354 KIT SNAI2 probemix |
25/50/100R |
P355 |
小头畸形 |
SALSA MLPA P355 Microcephaly probemix |
25/50/100R |
P356 |
亚端粒筛选 染色体 22q |
SALSA MLPA P356 Chromosome 22q probemix |
25/50/100R |
P357 |
青春晚期糖尿病(MODY) |
SALSA MLPA P357 MODY mix-2 probemix |
25/50/100R |
P358 |
亚端粒筛选-15 |
SALSA MLPA P358 Telomere-15 probemix |
25/50/100R |
P359 |
|
SALSA MLPA P359 PLOD1 probemix |
25/50/100R |
P360 |
|
SALSA MLPA P360 Y-chromosome probemix |
25/50/100R |
P361 |
尤塞氏综合症1 |
SALSA MLPA P361 USH2A mix 1 probemix |
25/50/100R |
P362 |
尤塞氏综合症2 |
SALSA MLPA P362 USH2A mix 2 probemix |
25/50/100R |
P365 |
亚端粒筛选-14 |
SALSA MLPA P365 Telomere-14 probemix |
25/50/100R |
P366 |
色素性视网膜炎(RP) |
SALSA MLPA P366 CHM-RP2 RPGR probemix |
25/50/100R |
P367 |
卵黄状黄斑营养不良 |
SALSA MLPA P367 BEST1 PRPH2 probemix |
25/50/100R |
P368 |
严重联合免疫缺陷和欧门氏综合征 |
SALSA MLPA P368 DCLRE1C probemix |
25/50/100R |
P369 |
史密斯 - 马盖尼斯综合征 |
SALSA MLPA P369 Smith-Magenis probemix |
25/50/100R |
P370 |
神经胶质瘤 |
SALSA MLPA P370 BRAF-IDH1 IDH2 probemix |
25/50/100R |
P371 |
微缺失追踪5 |
SALSA MLPA P371 Microdeletion-5 probemix |
25/50/100R |
P372 |
微缺失追踪6 |
SALSA MLPA P372 Microdeletion-6 probemix |
25/50/100R |
P373 |
微缺失追踪7 |
SALSA MLPA P373 Microdeletion-7 probemix |
25/50/100R |
P374 |
微缺失追踪8 |
SALSA MLPA P374 Microdeletion-8 probemix |
25/50/100R |
P376 |
乳腺癌谱 |
SALSA MLPA P376 BRCA1ness probemix |
25/50/100R |
P377 |
血液恶性肿瘤 |
SALSA MLPA P377 Hematologic malign. probemix |
25/50/100R |
P378 |
结肠癌,遗传性胃癌 |
SALSA MLPA P378 MUTYH probemix |
25/50/100R |
P379 |
类Pitt-Hopkins综合征2 |
SALSA MLPA P379 NRXN1 probemix |
25/50/100R |
P380 |
|
SALSA MLPA P380 Wilms' tumour probemix |
25/50/100R |
P381 |
马歇尔,II型斯蒂克勒综合征1 |
SALSA MLPA P381 COL11A1 mix 1 probemix |
25/50/100R |
P382 |
马歇尔,II型斯蒂克勒综合征2 |
SALSA MLPA P382 COL11A1 mix 2 probemix |
25/50/100R |
P383 |
|
SALSA MLPA P383 T-ALL probemix |
25/50/100R |
P384 |
身高 |
SALSA MLPA P384 Human Height probemix |
25/50/100R |
P385 |
HIES |
SALSA MLPA P385 DOCK8 probemix |
25/50/100R |
P386 |
HIES |
SALSA MLPA P386 DOCK8 STAT3 probemix |
25/50/100R |
P387 |
家族性青少年肾消耗病 |
SALSA MLPA P387 NPHP1 probemix |
25/50/100R |
P388 |
Aicardi-Goutieres综合症 |
SALSA MLPA P388 AGS probemix |
25/50/100R |
P389 |
|
SALSA MLPA P389 MLL2 probemix |
25/50/100R |
P390 |
小髌骨综合征 |
SALSA MLPA P390 TBX4 -17q23 probemix |
25/50/100R |
P391 |
先天性肌营养不良,分区蛋白缺陷 |
SALSA MLPA P391 LAMA2 mix1 probemix |
25/50/100R |
P392 |
先天性肌营养不良,分区蛋白缺陷 |
SALSA MLPA P392 LAMA2 mix2 probemix |
25/50/100R |
P393 |
先天性氯化物腹泻 |
SALSA MLPA P393 SLC26A3 probemix |
25/50/100R |
P394 |
微绒毛包涵体病(MVID) |
SALSA MLPA P394 MYO5B probemix |
25/50/100R |
P395 |
mental retardation |
SALSA MLPA P395 MEF2C-FOXG1 probemix |
25/50/100R |
P396 |
Autism-spectrum disorder |
SALSA MLPA P396 SHANK2 probemix |
25/50/100R |
P397 |
|
SALSA MLPA P397 SCN4A-CACNA1S probemix |
25/50/100R |
P398 |
智力低下(X-连锁)和MICPCH |
SALSA MLPA P398 CASK probemix |
25/50/100R |