Publications

 

MLPA

 

Gene Dosage

• Analysing Dosage Data (.pps)
• MLPA spreadsheet analysis instructions

Demonstration Data (.xls)

• P001 Trisomy
• P002 BRCA1
• P003 HNPCC
• P016 VHL
• P021 SMA
• P033 CMT
• P034 DMD
• P043 APC (Lot 09-04)
• P044 NF2
• P045 BRCA2
• P080 Craniofacial
• P087 BRCA1 confirmation

Genotyper Templates

• P002 BRCA1
• P003 HNPCC
• P016 VHL*
• P034 DMD*
• P035 DMD*
• P044 NF2
• P045 BRCA2 (Pre Lot 02-04)
• P045 BRCA2/CHEK2 (Lot 02-04)

Files for analysis (zipped excel files)

• ME001B Tumor suppressor-1
• ME028-X3 Prader-Willi - new
• ME30-B1 BWS RSS - new
• P007-A1 Adaptive QC - new
• P003-B1 HNPCC - new
• P015D2 MECP2 - new
• P021 SMA
• P023 DiGeorge Syndrome
• P024 MTAP - new
• P026B Sotos Syndrome
• P026C1 Sotos Syndrome - new
• P027 Uveal Melanoma
• P033B CMT
• P034 DMD
• P035 DMD
• P036B Telomere
• P036C Telomere Adaptive QC
• P036D Telomere Adaptive QC - new
• P036D Telomere Adaptive QC - new
• P037 Telomere
• P043 APC (Lot 09-04)
• P044 NF2 (Lot 09-05)
• P045 BRCA2/CHEK2 (Lot 1007)
• P046 TSC2 (Lot 10-07)
• P047 RB1 (Lot 12-04)
• P049 SLC6A8
• P050 CAH
• P056 TP53
• P057 FANCD2/PALB2
• P058 IGHMBP2 - new
• P60 SMA Carrier - new
• P062 LDLR
• P064 MR1
• P069 Telomere Adaptive QC
• P070 Telomere Adaptive QC
• P072 A1 MSH6 - new
• P079 OTC
• P080 Craniofacial
• P081 NF1 - revised
• P082 NF1
• P087 BRCA1 confirmation
• P091 CFTR
• P092B ABCC6
• P093 B1/HHT/PPH1
• P095 Aneuploidy Adaptive QC
• P098 Wilson Syndrome
• P099 GCH1-TH-SGCE - new
• P100 MYB
• P101 STK11
• P104 Menkes Disease
• P106 MRX Adaptive QC - new
• P108 SCN5A v5 - new
• P112 PROS1
• P114 A2 LQT - new
• P118 WT1
• P122 NF1
• P124 TSC1
• P140B HBA - new
• P147 1p36
• P158 A1 Juvenile Polyposis - new
• P165 HSP (Lot 09-06)
• P178 Factor VIII
• P178 FVIII - new
• P180 Limb Heart - new
• P184 Alagille Syndrome/JAG1
• P191 Alport Syndrome
• P204 22q11
• P209 GLDC - new
• P221 L1CAM Mix1
• P223 PHEX
• P227 SERPINC1
• P229 VMD
• P240 A1 BRIP-CHECK1 - new
• P242 Pancreatitis
• P245 Microdeletion Adaptive QC
• P248 MLPA - new
• P250 DiGeorge Adaptive QC - new
• P258 SMARCB1 - new
• P271 COL1A1
• P280 Pendred - new
• P283 TPMT/DYPD
• TS056-A1 SPRED1 - new