| MLPA
mix |
Known
syndrome / Disease |
Chromosomal
Area / Genes |
Panels
for Download |
| |
|
|
| SALSA
MLPA kits for methylation of Human DNA |
|
ME001B |
Tumor
suppressor genes 1 |
3p, 9p, 10p, 11q, 13g
Various
regions |
|
| ME002 |
Tumor
suppressor 2 |
Various
regions |
|
| ME011 |
Mismatch
repair genes |
MLH1,
MSH2, MSH6, MSH3, MLH3, MGMT |
|
| ME028 |
Prader-Willi
/ Angelman syndrome |
15q11-q13 |
|
| ME030 |
Beckwith-Wiedemann
Syndrome (BWS);
Russell-Silver Syndrome |
11p15
region, H19DMR, KvDMR |
|
| |
|
|
| SALSA
MLPA kits for Human DNA |
|
|
P002B |
Breast
Cancer |
BRCA1 |
|
| P003 |
Colon
Cancers (HNPCC) |
3p21.3;2p22-p21
MSH2
; MLH1 |
|
P004 |
Breast;
ovarian; cervical (ERBB2) |
17 |
|
| P005 |
Human
chromosomal aberration-1 |
All |
|
P006 |
Human
chromosomal aberration-2 |
All
|
|
| P007 |
Human
chromosomal aberration-3 |
All
|
|
P008 |
Colon
Cancers (HNPCC) |
MSH6
; PMS2 ; MUTYH |
|
| P014 |
Chromosome
8 KIT |
8 |
|
P015C |
RETT
Syndrome |
MECP2
|
|
| P016B |
Von
Hippel-Lindau Syndrome |
VHL |
|
P017 |
Multiple
endocrine neoplasia |
MEN1 |
|
| P018-C1 |
Turner / Klinefelter / Triple X
(Leri-Weill Syndrome) |
Xp22.3
SHOX
/ SHOX region |
|
P019/P020 |
Mental
retardation |
All
subtelomeric regions |
|
| P021 |
Spinal
Muscular Atrophy (SMA) |
SMN1 |
|
P022 |
Pelizaeus-Merzbacher
Disease |
PLP1 |
|
| P023B |
DiGeorge
/ Velocardiofacial / Cat eye |
22q11 |
|
P024 |
CDKN2A-CDKN2B
(P16) |
9p21
/ CDKN2A / CDKN2B |
|
| P025 |
Canavan |
ASPA |
|
P026B |
Sotos
Syndrome |
NSD1 |
|
| P027 |
Uveal
Melanoma |
1p,
3, 6p and 8q (MYC region) |
|
P029 |
Williams-Beuren
Syndrome |
7q11.23
/ ELN |
|
| P031/P032 |
Fanconi
Anemia |
FANCA |
|
P033B |
Charcot-Marie
Tooth Disease (CMT) |
17p11.2
PMP22 |
|
| P034/P035 |
Duchenne
/ Becker |
Xp21.2 DMD |
|
P036D |
Mental retardation
Subtelomeric screening 1 |
All
subtelomeric regions |
|
| P037/P038 |
Chronic
Lymphocytic Leukemia |
17p13;
13q14; 11q23.. |
|
P041/P042 |
Ataxia telangiectasia |
11q23 ATM |
|
P043 |
Colon
Cancer (polyposis) |
APC |
|
| P044 |
Neurofibromatosis
type 2 |
NF2 |
|
P045B |
Breast
Cancer
BRCA2 + CHEK2 |
13q12.3
BRCA2, CHEK2 |
|
| P046 |
Tuberous
sclerosis |
TSC2 |
|
P047 |
Retinoblastoma |
RB1 |
|
| P048 |
LMNA
(several syndromes) |
LMNA |
|
P049 |
Mental
retardation (X-linked creatine transporter) |
SLC6A8 |
|
| P050 |
Congential
Adrenal Hyperplasia |
CYP21A2
/ AGS |
|
P051/P052B |
Parkinson
(Familial) |
PARK2
; LRRK2 ; PINK1 ; UCHL1 ; DJ1 |
|
| P054 |
Ophthalmogenetic
Anomalies |
FOXL2
; OA1 ; TWIST |
|
P055 |
Phenylketonuria
(PAH) |
PAH |
|
| P056 |
Li-Fraumeni
Syndrome |
TP53 |
|
P057 |
Fanconi
anemia |
FANCD2-PALB2 |
|
| P061 |
Lissencenphaly |
17p13.3; Xq23
PAFAH1B1
; DCX ; FLNA ; POMGnT1 ; POMT1 |
|
P062 |
Hypercholesterolemia
(LDLR) |
LDLR |
|
| P063 |
Fragile
sites |
FHIT,
WWOX |
Available
june 2007 |
P064B |
Mental
retardation syndromes 1 |
07q11.23;
17p11; 17p13
1p-deletion, Williams, Smith-Magenis, Miller-Dieker, DiGeorge, Prader-Willi, Alagille, Saethre-Chotzen, Sotos |
|
| P065/P066 |
Marfan
Syndrome |
FBN1 |
|
P067 |
Gorlin
syndrome |
PTCH |
|
| P068 |
mHMGS
deficiency |
HMGCS2 |
|
P069 |
mental
retardation |
All
subtelomeric regions (not acrocentric arms) |
|
| P070 |
Mental retardation
Subtelomeric screening 2B |
All
subtelomeric regions |
|
P079 |
Ornithine
cabamoyltransferase (OTC) |
OTC |
|
| P080 |
Craniofacial
disorders |
7p21;
5q35.2; 11p11.2 |
|
P081/P082 |
Neurofibromatosis
type 1 |
NF1 |
|
| P083 |
CDH1 |
CDH1 |
|
P084 |
HNSCC1 |
17p13.1,
9p21; 2q14.. |
|
| P087 |
Breast
Cancer |
BRCA1
(confirmation of P002 results) |
|
P088 |
Oligodendroglioma-1 |
1p;
19q |
|
P090 |
Cystic
Fibrosis (CFTR) |
13q12.3 BRCA2 |
|
| P091 |
Breast cancer BRCA2 |
CFTR |
|
P092 |
Pseudoxanthoma
Elasticum |
ABCC6 |
|
| P093 |
Osler-Weber-Rendu
Syndrome (HHT) |
ENG,
ALK1 ; BMPR2 |
|
P094 |
Meditteranean
Fever |
MEFV |
|
| P095 |
Langdon
Down, Edwards, Patau |
13,
18, 21, X, Y |
|
P096 |
Mental
retardation syndromes 2 |
4p,
5p, 11p, 8p
Wolf-Hirschhorn, Cri du Chat, Langer-Giedon, WAGR, Rubinstein-Taybi, Downs, Kabuki |
|
| P097 |
Aniridia
/ Optic atrophy 1 |
OPA1
; PAX6 |
|
P098 |
Wilson
disease |
ATP7B |
|
| P099B |
a.d.
Dopa-responsive dystonia |
GCH1;
TH; SGCE |
|
P100 |
Hypertrophic
cardiomyopathy |
MYBPC3 |
|
| P101 |
Peutz-Jeghers
Syndrome |
STK11 |
|
P102 |
Beta-zero
thalassemia |
11p15.5
HBB,
HS1, HS2, HS3, HS4, HBE1, HBG2 |
|
| P104 |
Menkes
Disease |
ATP7A |
|
P105 |
Oligodendroglioma-2
|
PTEN
; TP53 ; CDKN2A ; ERBB2 ; EGFR |
|
| P106 |
Mental
retardation X-Linked |
DCX
; ARX ; 9 other genes |
|
P107 |
Neurometabolic
disorders |
MLC1,
L2HGDH, D2HGDH, MLYCD, ASPA |
|
| P108 |
Brugada
/ long QT |
SCN5A |
|
P109 |
LPAC
syndrome (ABCB4 gene) |
ABCB4 |
|
| P112 |
PROS1
deficiency |
PROS1 |
|
P113 |
Fanconi
Anemia |
FANCB |
|
| P114 |
Congenital
long QT syndrome |
KCNQ1
; KCNH2 |
|
P115 |
Rentinitis
Pitmentosa |
RPE65
; RP1 ; RHO |
|
| P117 |
Hyperinsulinemic Hypoglcemia 1, familial (HHF1)
|
|
|
|
P118 |
Wilms'
tumors |
WT1 |
|
|
P119 |
RHD |
RHD,
RHCE |
|
|
P122 |
Neurofibromatosis
type 1 |
NF1
area |
|
|
P123 |
Ataxia
teleangiectasia |
ATM |
|
|
P124 |
Tuberous
Sclerosis TSC1 |
TSC1 |
|
|
P125 |
Mitochondrial
DNA |
Mitochondrial
DNA |
|
|
P126/P127 |
Lung
Cancer |
2p;
5q; 9p; 11q; 13q; 16p |
|
|
P130/P131 |
Cerebral
Carvenous Malformations |
CCM1
; CCM2 ; CCM3 |
|
|
P132 |
Kallmann
Syndrome |
KAL;
STS; OA1 |
|
|
P133 |
Kallmann
Syndrome |
FGFR1;
GPR54;GNRH1; GNRHR; NELF; |
|
|
P136 |
Gitelman
syndrome |
SLC12A3
|
|
|
P137 |
Myoclonic
epilepsy |
SCN1A
|
|
|
P138 |
GLUT1
deficiency syndrome |
SLC2A1 |
|
|
P139 |
Defensin |
DEF
genes, SPAG11, other 8p |
|
|
P140B |
Alfa-Thalassemias |
16p13.3 HBA |
|
|
P141/P142 |
Cornelia
de Lange Syndrome |
NIPBL |
|
|
P143 |
Charcot-Marie-Tooth
disease |
MFN2;
MPZ |
|
|
P147 |
Monosomy
1p36 |
01p36.33 |
|
|
P148 |
Aortic
aneurysm syndrome |
TGFBR1
; TGFBR2 |
|
|
P150 |
Dyslexia |
DCDC2,
KAAG1, KIAA0319, VMP, ROBO1, ROBO2 |
|
|
P151/P152 |
Stargardt
macular dystrophy (ABCA4) |
ABCA4 |
|
|
P153 |
Branchio-oto-renal
dysplasia syndr. |
EYA1 |
|
|
P154 |
Simpson-Golabi-Behmel
syndrome |
GPC3
; GPC4 |
|
|
P155 |
Ehlers-Danlos
syndrome III & IV |
TNXB,
COL3A1, |
P155 |
|
P156 |
Classic
galactosemia |
GALT;
IL11RA |
|
|
P157 |
20q
copy number changes |
Various
genes on 20q |
|
|
P158 |
Juvenile
Polyposis (JPS) |
BMPR1A,
SMAD4, PTEN
|
|
|
P159 |
Fabry
disease |
GLA |
|
|
P160 |
Ichtyosis
(STS) |
STS |
|
|
P161/P162 |
Neuroblastoma |
1p36;
2p24.1; 2q33; 3p; 9p21; 11q23; 16p; 17p13; 17q; 19q |
|
|
P163 |
Deafness |
GJB;
WFS1; PSPC1: ZNF198; LATS2; SGCG |
|
|
P164 |
Hunter
Syndrome |
ID1 |
|
|
P165 |
Hereditary
spastic paraplegia |
SPG3A
; SPG4 |
|
|
P166 |
Bening
Familial Neonatal Convulsion |
KCNQ2 |
P166 |
|
P168 |
Arrhythmogenic
right ventricular cardiomyopathy ARVC |
PKP2,
JUP, DSP, TGFß3, RYR2 |
|
|
P169 |
Hirschsprung |
RET
; GDNF ; EDN3 ; ZFHX1B |
|
|
P170B |
Alzheimer
(early-onset) |
21q21.3 APP |
|
|
P171-P173 |
Gain,
Gain & Gain |
Various
genes often amplified in tumors |
|
|
P176 |
Limb
girdle muscular dystrophies (LGMD) |
CAPN3
|
|
|
P177 |
Familial
Hypocalciuric Hypercalcemia |
CASR |
|
|
P178 |
Haemophilia
A |
FVIII |
|
|
P179 |
Limb
malformations |
GLI3,
HOXD13, ROR2 |
|
|
P180 |
Limb
malformations / Heart |
SALL1,
SALL4, TBX5 |
|
|
P181/P182 |
Mental retardation - Centromeric screening |
All
centromeres except Y |
|
|
P183 |
ectodermal
dysplasia |
ED1 |
|
|
P184 |
Alagille
Syndrome (AGS) |
JAG1 |
|
|
P185 |
Intersex |
X,
Y, NR0B1; SOX9; WNT4; CYP21A2; CYP21P |
|
|
P186 |
PAX3 |
MITF
and PAX3 |
|
|
P187 |
Holoprosencephaly |
PTCH;
SHH; SIX2; SIX3; TGIF; ZIC2 |
|
|
P188 |
Telomeric
22q13.3 monosomy |
various
genes on 22q13 |
|
|
P189 |
Atypical
Rett Syndrome |
NTNG1;
CDKL5; ARX |
|
|
P190 |
Cancer
Susceptibility |
22q12.1
CHEK2;
ATM; BRCA1&2; PTEN; XBP1; TP53 |
|
P191-P192 |
Alport syndrome |
Xp22 COL4A5; COL4A6 |
|
|
P194 |
3-methylcrotonylglycinuria
I and II |
MCCC1
& MCCC2 |
P194 |
|
P196 |
Familial
hypertrophic cardiomyopathy, Dilated cardiomyopathy. |
TNNT2 |
|
|
P197 |
Epilepsy
|
KCNQ3,
CHRNA4, EPM2A, EPM2B and CHRNB2 |
|
|
P198 |
Fumarase
Deficiency |
FH |
|
|
P199 |
Tay-Sachs
disease |
HEXA |
|
|
P201 |
Charge
syndrome |
CHD7
|
|
|
P203 |
Pyruvate
kinase (PK) deficiency |
PKLR;
LMNA |
|
|
P205 |
X-linked
lymphoprololiferative syndrome |
SH2D1A |
|
|
P207 |
Factor
IX Deficiency |
F9 |
|
|
P208 |
Subtelomeric
abnormalities |
2p;
3p; 6p; 8p |
|
|
P209 |
Glycine
encephalopathy |
GLDC |
|
|
P210 |
Agammaglobulinemia |
BTK |
|
|
P211 |
HSP
region mix |
SPAST;
LOC84661; SLC30A6; TUBGCP5; NIPA2; NIPA1 |
|
|
P212 |
Diamond-Blackfan
anemia (DBA) |
CSMD1,
MCPH1, ANGPT2 and AGPAT5. |
|
|
P213 |
Hereditary
spastic paraplegias (HSPs) |
REEP1,
SPG7 |
|
|
P214 |
Achondrogenesis |
Col2A1
|
|
|
P215 |
Multiple
osteochondromas |
EXT1,
EXT2 |
|
|
P218 |
Hyperlipoproteinemia
type I |
LPL |
|
|
P219 |
Aniridia,
Keratitis, Peter’s anomaly, etc. |
PAX6,
WT1 |
|
|
P223 |
X-linked
hypophosphatemia |
PHEX,
FGF23 |
|
|
P224 |
Diabetes
Mellitis and Obesity |
PPARG |
|
|
P225 |
PTEN |
PTEN |
|
|
P226 |
Paragangliomas
(PGL) |
SDHB,
SDHC and SDHD |
|
|
P227 |
Antithrombin
(III) deficiency |
SerpinC1
|
|
|
P229 |
Macular
Dystrophy |
OPA,
VMD2 and RDS |
|
|
P230 |
Mental
retardation |
9p,
10p, 11p, 12p |
|
|
P231 |
Autosomal
dominant lacrimoauriculodentodigital (LADD) syndrome |
FGF10,
FGFR2 |
|
|
P232 |
Faciogenital
dysplasia, X-linked skeletal dysplasia |
FGD1 |
|
|
P233 |
X-linked
form of OPITZ syndrome |
MID1 |
|
|
P235 |
Retinitis
Pigmentosa |
RHO,
IMPDH1, RP1 and PRPF31 |
|
