| 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 |
| 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 |
| 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 |
| 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 |
2 |
| P352 |
PKD1-PKD2 |
2 |
| 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 |
| P457 |
DHCR7 |
2 |
| P461 |
STRC-CATSPER2-OTOA |
1 |
| P472 |
SUFU |
2 |
| P489 |
BARD1 |
2 |
| P492 |
POLD1 - POLE |
1 |
| P494 |
NBN |
1 |
