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 |
3 |
P042 |
ATM-2 |
3 |
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 |
3 |
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 |
P137 |
SCN1A |
1 |
P147 |
1p36 |
1 |
P165 |
HSP mix-1 |
1 |
P190 |
CHEK2 |
5 |
P213 |
HSP mix-2 |
1 |
P215 |
EXT |
2 |
P225 |
PTEN |
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 |
P272 |
COL1A2 |
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 |