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Společnost lékařské genetiky a genomiky
České lékařské společnosti Jana Evangelisty Purkyně, z. s.

Kit Název Počet pracovišť
ME028 PWS/AS 1
ME030 BWS/RSS 1
P002 BRCA1 6
P003 MLH1/MSH2 4
P008 PMS2 2
P015 MECP2 1
P016 VHL 1
P017 MEN1 1
P018 SHOX 2
P021 SMA 2
P031 FANCA mix 1 1
P032 FANCA mix 2 1
P033 CMT1 1
P034 DMD-1 1
P035 DMD-2 1
P036 Subtelomeres Mix 1 1
P041 ATM-1 2
P042 ATM-2 2
P043 APC 2
P044 NF2 2
P045 BRCA2/CHEK2 6
P046 TSC2 3
P047 RB1 1
P056 TP53 3
P057 FANCD2-PALB2 2
P060 SMA Carrier 4
P061 Lissencephaly 1
P062 LDLR 2
P064 Microdeletion Syndromes 1B 1
P070 Subtelomeres Mix 2B 1
P072 MSH6-MUTYH 6
P077 BRCA2 Confirmation 1
P081 NF1 mix 1 3
P082 NF1 mix 2 3
P083 CDH1 1
P087 BRCA1 Confirmation 2
P090 BRCA2 1
P091 CFTR 2
P101 STK11 2
P106 X-linked ID 2
P113 FANCB 1
P118 WT1 1
P122 NF1-area 1
P124 TSC1 3
P136 Gitelman Syndrome 1
P147 1p36 1
P165 HSP mix-1 1
P190 CHEK2 5
P213 HSP mix-2 1
P215 EXT 1
P229 OPA1 1
P236 CFH Region 1
P240 BRIP1/CHEK1 2
P241 MODY Mix 1 1
P245 Microdeletion Syndromes-1A 2
P250 DiGeorge 1
P256 FLCN 1
P258 SMARCB1 1
P260 PALB2-RAD50-RAD51C-RAD51D 1
P266 CLCNKB 1
P271 COL1A1 1
P296 aHUS 1
P297 Microdeletion-2 1
P306 SPG11 1
P308 MET 1
P325 OCA2 1
P337 TSC2 Confirmation 1
P341 PKHD1 mix 1 1
P342 PKHD1 mix 2 1
P343 Autism-1 1
P351 PKD1 1
P352 PKD1-PKD2 1
P378 MUTYH 1
P387 NPHP1 1
P417 BAP1 1
P419 CDKN2A/2B-CDK4 1
P444 COL4A4 1
P457 DHCR7 1
P472 SUFU 1
P489 BARD1 1