Společnost lékařské genetiky a genomiky
České lékařské společnosti Jana Evangelisty Purkyně, z. s.
| Kit | Název | Počet pracovišť |
|---|---|---|
| ME012 | MGMT-IDH1-IDH2 | 1 |
| ME024 | 9p21 CDKN2A/2B region | 1 |
| ME028 | PWS/AS | 2 |
| ME030 | BWS/RSS | 2 |
| P002 | BRCA1 | 9 |
| P003 | MLH1/MSH2 | 6 |
| P008 | PMS2 | 6 |
| P010 | POLG | 1 |
| P011 | VWF mix 1 | 1 |
| P012 | VWF mix 2 | 1 |
| P013 | ATRX | 1 |
| P015 | MECP2 | 2 |
| P016 | VHL | 2 |
| P017 | MEN1 | 1 |
| P018 | SHOX | 5 |
| P021 | SMA | 3 |
| P031 | FANCA mix 1 | 2 |
| P032 | FANCA mix 2 | 2 |
| P033 | CMT1 | 1 |
| P034 | DMD-1 | 2 |
| P035 | DMD-2 | 1 |
| P036 | Subtelomeres Mix 1 | 1 |
| P041 | ATM-1 | 4 |
| P042 | ATM-2 | 4 |
| P043 | APC | 3 |
| P044 | NF2 | 4 |
| P045 | BRCA2/CHEK2 | 8 |
| P046 | TSC2 | 4 |
| P047 | RB1 | 1 |
| P050 | CAH | 2 |
| P051 | Parkinson mix 1 | 1 |
| P052 | Parkinson mix 2 | 1 |
| P055 | PAH | 1 |
| P056 | TP53 | 4 |
| P057 | FANCD2-PALB2 | 2 |
| P060 | SMA Carrier | 7 |
| P061 | Lissencephaly | 1 |
| P062 | LDLR | 3 |
| P064 | Microdeletion Syndromes 1B | 1 |
| P065 | Marfan Syndrome-1 | 2 |
| P066 | Marfan Syndrome-2 | 1 |
| P067 | PTCH1 | 1 |
| P070 | Subtelomeres Mix 2B | 1 |
| P071 | LMNB1-PLP1-NOTCH3 | 1 |
| P072 | MSH6-MUTYH | 7 |
| P075 | TCF4-FOXG1 | 1 |
| P077 | BRCA2 Confirmation | 1 |
| P080 | Craniofacial | 1 |
| P081 | NF1 mix 1 | 5 |
| P082 | NF1 mix 2 | 5 |
| P083 | CDH1 | 2 |
| P087 | BRCA1 Confirmation | 4 |
| P088 | Oligodendroglioma 1p-19q | 1 |
| P089 | TK2 | 1 |
| P090 | BRCA2 | 1 |
| P091 | CFTR | 4 |
| P094 | MEFV | 1 |
| P098 | Wilson disease | 2 |
| P101 | STK11 | 3 |
| P103 | DPYD | 1 |
| P104 | Menkes ATP7A | 1 |
| P105 | Glioma-2 | 2 |
| P106 | X-linked ID | 3 |
| P112 | PROS1 | 1 |
| P113 | FANCB | 1 |
| P118 | WT1 | 1 |
| P122 | NF1-area | 1 |
| P124 | TSC1 | 4 |
| P136 | Gitelman Syndrome | 1 |
| P137 | SCN1A | 1 |
| P147 | 1p36 | 1 |
| P151 | ABCA4 mix-1 | 1 |
| P152 | ABCA4 mix-2 | 1 |
| P155 | EDS | 1 |
| P158 | JPS | 1 |
| P165 | HSP mix-1 | 1 |
| P176 | CAPN3 | 1 |
| P178 | F8 | 1 |
| P189 | CDKL5/ARX/FOXG1 | 1 |
| P190 | CHEK2 | 7 |
| P191 | Alport-mix 1 | 1 |
| P192 | Alport-mix 2 | 1 |
| P198 | FH | 2 |
| P207 | F9 | 1 |
| P209 | Glycine Encephalopathy | 1 |
| P213 | HSP mix-2 | 1 |
| P215 | EXT | 4 |
| P220 | Obesity | 1 |
| P225 | PTEN | 2 |
| P226 | SDH | 1 |
| P227 | SerpinC1 | 1 |
| P229 | OPA1 | 2 |
| P235 | Retinitis | 1 |
| P236 | CFH Region | 2 |
| P240 | BRIP1/CHEK1 | 3 |
| P241 | MODY Mix 1 | 2 |
| P242 | Pancreatitis | 1 |
| P243 | SERPING1 - F12 | 1 |
| P245 | Microdeletion Syndromes-1A | 4 |
| P248 | MLH1-MSH2 Confirmation | 1 |
| P250 | DiGeorge | 2 |
| P256 | FLCN | 1 |
| P258 | SMARCB1 | 2 |
| P260 | PALB2-RAD50-RAD51C-RAD51D | 2 |
| P265 | PROC | 1 |
| P266 | CLCNKB | 1 |
| P271 | COL1A1 | 1 |
| P272 | COL1A2 | 1 |
| P280 | SLC26A4 | 1 |
| P296 | aHUS | 1 |
| P297 | Microdeletion-2 | 1 |
| P306 | SPG11 | 1 |
| P308 | MET | 1 |
| P312 | POR | 1 |
| P325 | OCA2 | 2 |
| P328 | EYS | 1 |
| P337 | TSC2 Confirmation | 1 |
| P341 | PKHD1 mix 1 | 1 |
| P342 | PKHD1 mix 2 | 1 |
| P343 | Autism-1 | 1 |
| P348 | ATP1A2-CACNA1A-PRRT2 | 1 |
| P351 | PKD1 | 3 |
| P352 | PKD1-PKD2 | 3 |
| P355 | Microcephaly | 1 |
| P361 | USH2A mix 1 | 1 |
| P362 | USH2A mix 2 | 1 |
| P370 | BRAF-IDH1-IDH2 | 2 |
| P378 | MUTYH | 1 |
| P380 | Wilms' tumour | 1 |
| P387 | NPHP1 | 2 |
| P395 | MEF2C-FOXG1 | 1 |
| P405 | CMT1 | 1 |
| P411 | Porphyria mix 1 | 1 |
| P412 | Porphyria mix 2 | 1 |
| P417 | BAP1 | 2 |
| P419 | CDKN2A/2B-CDK4 | 2 |
| P429 | SDHA-MAX-TMEM127 | 1 |
| P439 | COL4A3 | 1 |
| P444 | COL4A4 | 1 |
| P453 | GAA | 1 |
| P457 | DHCR7 | 2 |
| P461 | STRC-CATSPER2-OTOA | 1 |
| P472 | SUFU | 2 |
| P489 | BARD1 | 2 |
| P492 | POLD1 - POLE | 1 |
| P494 | NBN | 1 |
