MLPA
mix |
Known
Syndrome / Disease |
Chromosomal
Area / Genes |
Panels
for Download |
| |
|
|
| SALSA
MLPA kits for methylation of Human DNA |
|
ME001-Tumor suppressor-1 |
Tumour suppressor genes |
Various |
|
ME002-Tumor suppressor-2 |
Tumour suppressor genes |
Various |
|
ME003-Tumor suppressor-3 |
Tumour suppressor genes |
Various |
|
ME011-MMR |
Mismatch repair genes (MMR) |
MLH1, MSH2, MSH6, MLH3, MSH3 |
|
ME024-9p21 |
Tumours, Cutaneous melanoma |
9p21, CDKN2A, CDKNA2B |
|
ME028-PWS/AS |
Prader Willi syndrome (PWS), Angelman syndrome (AS) |
PWS/AS region (15q11-13), MKRN3, MAGEL2, NDN, SNRPN, UBE3A, ATP10A, GABRB3, OCA2 |
|
ME029-FMR1/AFF2 |
Fragile X |
FMR1, AFF2 |
|
ME030-BWS/RSS |
Beckwith-Wiedemann Syndrome (BWS), Russell-Silver Syndrome (RSS) |
11p15 region, H19, IGF2, CDKN1C, KCNQ1 |
|
ME031-GNAS |
Albright hereditary osteodystrophy (AHO), Pseudohypoparathyroidism (PHP) |
GNAS 20q13.32 |
|
ME046-Repair |
Repair genes |
Various |
|
| |
|
|
| SALSA
MLPA kits for Human DNA |
|
|
P002-BRCA1 |
Breast cancer, hereditary |
BRCA1, 17q21 |
|
P003-MLH1/MSH2 |
Hereditary nonpolyposis colon cancer (HNPCC) |
MLH1 3p21.3, MSH2 2p22 |
|
P004-ERBB2 |
Cancer |
ERBB2 (HER2-NEU) 17q21.1 |
|
P005-H.C.A.-1 |
Tumour research |
various |
|
P006-H.C.A.-2 |
Tumour research |
Various |
|
P007-H.C.A.-3 |
Tumour research |
Various |
|
P008-PMS2/MSH6 |
Hereditary nonpolyposis colon cancer (HNPCC) |
MSH6 2p16, PMS2 7p22 |
|
P014-Chromosome 8 |
Tumour research |
Chromosome 8 |
|
P015-MECP2 |
RETT syndrome |
MECP2, Xq28 |
|
P016-VHL |
Von Hippel-Lindau Syndrome |
VHL, 3p25 |
|
P017-MEN1 |
Multiple endocrine neoplasia |
MEN1 11q13 |
|
P018-SHOX |
Idiopathic growth retardation |
SHOX Xp22 |
|
P021-SMA |
Spinal Muscular Atrophy (SMA) |
SMN1, SMN2, 5q13 |
|
P022 -PLP1 |
Pelizaeus-Merzbacher disease (PMD) |
PLP1 Xq22 |
|
P023-DIGEORGE |
DiGeorge syndrome, Velocardiofacial syndrome (VCFS, Cat eye syndrome (CES) |
22q11 |
|
P025-Canavan |
Canavan disease |
ASPA, 17p13 |
|
P026-Sotos |
Sotos syndrome |
NSD1, 5q35 |
|
P027-Uveal |
Uveal Melanoma |
1p, 3, 6p, 8q (MYC region) |
|
P029-WBS |
Williams-Beuren syndrome |
WBS criticial region 7q11.23 |
|
P031-FANCA-1 |
Fanconi Anemia (FA) |
FANCA 16q24.3 |
|
P032-FANCA-2 |
Fanconi Anemia (FA) |
FANCA 16q24.3 |
|
P033-CMT1 |
Charcot-Marie Tooth disease (CMT1), Hereditary Neuropathy with liability to Pressure Palsies (HNPP) |
CMT1/HNPP region, 17p11.2 |
|
P034-DMD-1 |
Duchene Muscular Dystrophy (DMD) |
DMD, Xp21.2 |
|
P035-DMD-2 |
Duchenne Muscular Dystrophy (DMD) |
DMD, Xp21.2 |
|
P036-Telomere-3 |
Broad subtelomere screening |
All subtelomeres |
|
P037-CLL-1 |
Chronic Lymphocytic Leukemia (CLL) |
Various |
|
P038-CLL-2 |
Chronic Lymphocytic Leukemia (CLL) |
Various |
|
P040-CLL |
Chronic Lymphocytic Leukemia (CLL) |
Various |
|
P041-ATM-1 |
Ataxia-Telangiectasia (AT) |
ATM 11q23 |
|
P042-ATM-2 |
Ataxia-Telangiectasia (AT) |
ATM 11q23 |
|
P043-APC |
Hereditary Polyposis Colon Cancer |
APC, 5q21-q22 |
|
P044-NF2 |
Neurofibromatosis type 2 (NF2) |
NF2 22q12 |
|
P045-BRCA2/CHEK2 |
Breast cancer, hereditary |
BRCA2 13q12.3, CHEK2 22q12.1 |
|
P046-TSC2 |
Tuberous Sclerosis |
TSC2 16p13.3 |
|
P047-RB1 |
Retinoblastoma (RB) |
RB1 13q14 |
|
P048-LMNA/MYOT |
Laminopathies, Limb-girdle muscular dystrophy, Myofibrillar myopathies |
LMNA 1q21.2-1q21.3 |
|
P049-SLC6A8 - Xq28 |
Creatine transporter, x-linked |
SLC6A8, Xq28 |
|
P050-CAH |
Congenital adrenal hyperplasia |
CYP21A2 6p21.3 |
|
P051-Parkinson-1 |
Parkinson disease, familial |
PARK2 6q25.2, SNCA 4q21, Pink1, Park7 1p36 |
|
P052-Parkinson-2 |
Parkinson disease, familial |
PARK2 6q25.2, UCHL1 4p14, GCH1 14q22.1, LRRK2 12q12 |
|
P054-FOXL2-TWIST1 |
Ophthalmogenetic anomalies |
FOXL2 , TWIST1, FOXC1, FOXC2, ATR, PITX2, GPR143 |
|
P055-PAH |
Phenylketonuria |
PAH 12q24.1 |
|
P056-TP53 |
Li-Fraumeni syndrome (LFS) |
P53 17q13.1 |
|
P057-FANCD2 |
Fanconi anemia (FA) |
FANCD2. 3p25.3, PALB2 16p12 |
|
P058-IGHMBP2 |
Distal spinal muscular atrophy 1 (DSMA1), SMARD1, dHMN6 |
IGHMBP2 11q13 |
|
P060-SMA-carrier |
Spinal Muscular Atrophy (SMA) |
SMN1, SMN2, 5q13 |
|
P061-Lissencephaly |
Lissencephaly |
LIS1, DCX, POMT1, POMGnT1, FLNA |
|
P062-LDLR |
Hypercholesterolemia, familial |
LDLR 19p13.2 |
|
P064-MR-1 |
Mental Retardation; 1p-deletion, Williams, Smith-Magenis, Miller-Dieker, DiGeorge, Prader-Willi, Alagille, Saethre-Chotzen, Sotos |
Various |
|
P065-Marfan-1 |
Marfan syndrome |
FBN1 15q21.1, TGFBR2 3p22 |
|
P066-Marfan-2 |
Marfan syndrome |
FBN1 15q21.1 |
|
P067-Gorlin |
Gorlin syndrome |
PTCH 9q22.3 |
|
P068-HMGCS2 |
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (mHMGS) |
HMGSC2 1p13 |
|
P069-Telomere-4 |
Broad subtelomeric screening |
All subtelomeres |
|
P070-Telomere-5 |
Broad subtelomeric screening |
All subtelomeres |
|
P071-LMNB1-PLP1 |
Leukodystrophy |
LMNB1 5q23.2, PLP1 Xq22.2, NOTCH3 19p13.12 |
|
P072-MSH6improved |
Hereditary nonpolyposis colon cancer (HNPCC) |
MSH6 2p16 |
|
P078-Breast tumor |
Breast tumour |
genes frequently showing copy number changes in breast tumours, including ERBB2, BIRC5, MYC, TOP2A, ESR1, MTDH, CCND1, CCNE1, EGFR and C11orf30 |
|
P079-OTC |
Ornithine cabamoyltransferase (OTC) |
OTC Xp21.1 |
|
P080-Craniofacial |
Craniofacial disorders |
FGFRs, TWIST, MSX2, ALX4, RUNX2 |
|
P081-NF1-1 |
Neurofibromatosis |
NF1 17q11.2 |
|
P082-NF1-2 |
Neurofibromatosis |
NF1 17q11.2 |
|
P083-CDH1 |
CDH1 or E-cadherin |
CDH1 16q22.1 |
|
P087-BRCA1 |
Breast cancer, hereditary |
BRCA1 |
|
P088-OligodendrogliomA-1 |
Oligodendroglioma |
1p, 19q |
|
P090-BRCA2 |
Breast cancer, hereditary |
BRCA2 13q12.3 |
|
P091-CFTR |
Cystic Fibrosis |
CFTR 7q31.2 |
|
P092-ABCC6 |
Pseudoxanthoma elasticum |
ABCC6 16p13.1 |
|
P093-HHT |
Hemorrhagic telangiectasia, hereditary (HHT), Primary pulmonary hypertension (PPH1) |
ENG 9q34.1, ALK1 12q13.13, BMPR2 2q33.3 |
|
P094-MEFV |
Mediterranean fever, familial (MEFV) |
MEFV 16p13.3 |
|
P095-Aneuploidy |
Down syndrome, Edwards syndrome, Patau syndrome |
Chr. 13, 18, 21, X, Y |
|
P096-MR-2 |
Mental retardation, Wolf-Hirschlorn, Cri du Chat, Langer-Giedon, WAGR, Rubinstein-Taybi, Down, Kabuki |
Various |
|
P098-Wilson |
Wilson disease |
ATP7B 13q14.3 |
|
P099-B-GCH1-TH-SGCE |
Dopa-responsive dystonia, Segawa disease; Myoclonus-dystonia syndrome |
TH 11p15.5, GCH114q22, SGCE 7q21 |
|
P100-MYBPC3 |
Hypertrophic cardiomyopathy, familial |
MYBPC3 11p11.2 |
|
P101-STK11 |
Peutz-jeghers syndrome (PJS) |
STK11 19p13.3 |
|
P102-HBB |
Thalassemia, beta-zero |
HBB 11p15.5 |
|
P103-DPYD |
Dihydropyrimidine dehydrogenase (DPYD) deficiency |
DPYD 1p22 |
|
P104-Menkes |
Menkes disease |
ATP7A Xq13.3 |
|
P105-Glioma-2 |
Oligodendroglioma |
EGFR, TP53, PTEN, CDKN2A, ERBB2 |
|
P106-MRX |
Mental retardation, x-linked (XLMR) |
Chromosome X |
|
P107-Neurolometabolic |
Neurometabolic disorders |
ASPA, MLC1, MLYCD, D2HGDH, L2HGDH |
|
P108-SNC5A |
Brugada / long QT |
SCN5A 3p22 |
|
P109-ABCB4 |
Drug-transport pump |
ABCB4 7q21,1 |
|
P112-PROS1 |
PROS1 deficiency |
PROS1 3q11.2 |
|
P113-FANCB |
Fanconi anemia complementation group B |
FANCB Xp22 |
|
P114-Long-QT |
Congenital long QT syndrome (LQT) |
KCNQ1 11p15.5, KCNH2 7q35 |
|
P116-SGC |
Limb-girdle muscular dystrophy (LGMD) |
SGCA, SGCB, SGCD, SGCG, FKRP |
|
P117-ABCC8 |
Hyperinsulinemic hypoglycemia, familial (HHF1) |
ABCC8 11p15.1 |
|
P118-WT1 |
Wilms tumours, WAGR, Denys-Drash, Frasier syndrome. |
WT1 11p13 |
|
P119-RHD |
Rh blood group antigens |
RHD 1p36.2-1p34 |
|
P120-PANK2/PLA2G6 |
Neurodegeneration with brain iron accumulation (NBIA) |
PANK2 20q13, PLA2G6 22q13 |
|
P122-NF1-area |
Neurofibromatosis |
NF1 17q11.2 |
|
P124-TSC1 |
Tuberous Sclerosis |
TSC1 9q34 |
|
P125-Mitochondria |
Mitochondrial DNA (mtDNA) |
Mitochondria |
|
P128-CYP450 |
Cytochrome P-450 |
CYP2D6, CYP2C9, CYP2C19, CYP1B1, CYP3A4, CYP3A5, CYP2E1, CYP1A1, CYP1A2, CYP2A6, CYP2B6, GSTP1, GSTT1 and GSTM1 |
|
P129-GJB1 |
Charcot Marie Tooth disease, x-linked |
GJB1 Xq13.1 |
|
P130-CCM mix-A |
Cerebral carvernous malformations (CCM) |
CCM 7q21 |
|
P131-CCM mix-B |
Cerebral carvernous malformations (CCM) |
CCM 7q21 |
|
P132-Kallman-1 |
Kallmann syndrome, x-linked |
KAL1 Xp22 |
|
P133-Kallman-2 |
Kallmann syndrome |
FGFR1 8p11.2, GNRHR 8p21, KISSR1 19p13.3 , GNRH1, NELF 9q34.3 |
|
P136-Gitelman |
Gitelman syndrome |
SLC12A3 16q13 |
|
P137-SCN1A |
Epilepsy |
SCN1a 2q24.3 |
|
P138-SLC2A1 |
Glut1 deficiency syndrome |
SLC2A1 1p34.2 |
|
P139-Defensin |
Defensin |
DEF, 8q22, 8q23, |
|
P140-HBA |
Thalassemisas, Alpha |
HBA 16p |
|
P141-NIPBL-1 |
Cornelia de Lange syndrome (CDLS) |
NIPBL 5q13.1 |
|
P142-NIPBL-2 |
Cornelia de Lange syndrome (CDLS) |
NIPBL 5q13.1 |
|
P143-MFN2-MPZ |
Charcot-Marie-Tooth disease (CMT2A/1B) |
MFN2 1p36.2, MPZ 1q22 |
|
P144-MDS 1 |
Myelodysplastic syndrome (MDS) |
Chr. 5, 7, 8, 11, 12, 17, 20, 21 |
|
P145-MDS 2 |
Myelodysplastic syndrome (MDS) |
Chr. 5, 7, 8, 11, 12, 17, 20, 21 |
|
P147-1p36 |
1p36 deletion syndrome |
1p36 |
|
P148-TGFBR |
Aortic aneurysm syndrome |
TGFBR1 9q22, TGFBR2 3p22 |
|
P150-Dyslexia |
Dyslexia |
DCDC2 6p22, ROBO1 3q12, ROBO2 3q12, NRSN1 6p22 |
|
P151-ABCA4 mix-1 |
Stargardt, Macular dystrophy, Retinitis pigmentosa, age-related macular degeneration |
ABCA4 (ABCR) 1p22.1 |
|
P152-ABCA4 mix-2 |
Stargardt, Macular dystrophy, Retinitis pigmentosa, age-related macular degeneration |
ABCA4 (ABCR) 1p22.1 |
|
P153-EYA1 |
Branchio-oto-renal dysplasia syndrome (BOR) |
EYA1 8q13.3. |
|
P154-GPC3-GPC4 |
Simpson-Golabi-Behmel syndrome (SGBS) |
GPC3, GPC4, Xq26 |
|
P155-EDS |
The Ehlers-Danlos syndrome type III (EDS III) |
COL3A1 2q31, TNXB 6p21.3. |
|
P156-GALT |
Classic galactosemia |
GALT 9p13 |
|
P157-20q |
20q |
BCL2L1, SRC, MYBL2, PTPN1, ZNF217, BCAS1, GNAS |
|
P158-Juvenile Polyposis |
Juvenile polyposis syndrome (JPS) |
BMPR1A 10q22, SMAD4 18q21, PTEN |
|
P159-GLA |
Fabry Disease |
GLA Xq22 |
|
P160-STS |
Steroid Sulfatase gene (STS) |
STS Xp22 |
|
P163-GJB-WFS1 |
Hearing loss |
GJB 1p35.1 (connexin 31), WFS1 4p16.1 (Wolframin) |
|
P164-IDS |
Mucopolysaccharidosis type II, or Hunter syndrome |
IDS Xq28 |
|
P165-HSP |
Spastic paraplegia, hereditary (HSP) |
SPG3A 14q21, SPAST 2p22 |
|
P166-KCNQ2 |
Benign familial neonatal convulsion (BFNC) |
KCNQ2 20q13.33 |
|
P168-PKP2 |
Arrhythmogenic right ventricular cardiomyopathy (ARVC) |
DSP 6p24, PKP2 12q11.21 |
|
P169-Hirschsprung |
Hirschsprung disease, or Aganglionic Megacolon |
RET 10q11.2, ZFHX1B 2q22.3, EDN3 20q13.3 and GDNF 5q13.2 |
|
P170-APP |
Alzheimer disease, early-onset |
APP 21q21.3 |
|
P171-Gain-1 |
Tumours |
various genes |
|
P172-Gain-2 |
Tumours |
various genes |
|
P173-Gain-3 |
Tumours |
various genes |
|
P176-CAPN3 |
Limb girdle muscular dystrophy 2A (LGMD2A) |
CAPN3 15q15.1 |
|
P177-CASR |
Hypocalciuric Hypercalcemia, familial |
CASR 3q13 |
|
P178-FVIII |
Haemophilia A, x-linked |
FVIII Xq28 |
|
P179-Limb-1 |
Limb malformations |
GLI3 7p13, HOXD13 2q31, ROR2 9q22 |
|
P180-Limb-2 |
Limb malformations, heart |
SALL1 16q12, SALL4 20q13, TBX5 12q24 |
|
P181-Centromere-1 |
Centromeric screening |
Centromeres |
|
P182-Centromere-2 |
Centromeric screening |
Centromeres |
|
P183-EDA |
Ectodermal dysplasia, x-linked (XLHED) |
EDA Xq12-q13.1 |
|
P184-JAG1 |
Alagille Syndrome (AGS) |
JAG1 20p12.2 |
|
P185-Intersex |
Sex determination |
SOX9 17q24.3, NR5A1 9p33, WNT4 1p36.12, NROB1 Xp21.2 |
|
P186-PAX3 |
Waardenburg syndrome (WS) type II, WS1, WS3 |
PAX3 2q35, MITF 3p14 |
|
P187-Holoprosencephaly |
Holoprosencephaly (HPE) |
PTCH, SHH, ZIC2, SIX3, TGIF TMEM1, FBXW11 |
|
P188-22q13 |
Phelan-Mcdermid syndrome, Telomeric monosomy 22q13.3 |
22q13.3, SHANK3, ACR, RABL2B |
|
P189-RETT-like |
Rett syndrome, atypcial |
CDKL5 Xp22, NTNG1 1p13.3, ARX Xp22.1 |
|
P190-CHEK2 |
Breast cancer suspectibility |
CHEK2 22q12, ATM , PTEN, TP53 |
|
P191-COL4A5-mix1 |
Alport syndrome, Hereditary Nephritis |
COL4A5 Xq22 |
|
P192-COL4A5-mix2 |
Alport syndrome, Hereditary Nephritis |
COL4A5 Xq22 |
|
P194-MCCC |
3-methylcrotonylglycinuria I and II |
MCCC1 3q27, MCCC2 5q12 |
|
P196-TNNT2 |
Hypertrophic cardiomyopathy familial, Dilated cardiomyopathy |
TNNT2 1q32 |
|
P198-FH |
Fumarase deficiency |
FH 1q43 |
|
P199-HEXA |
Tay-sachs disease |
HEXA 15q23 |
|
P200-Reference-1 |
Synthetic 'home-made' probes |
Reference probes + control fragments |
|
P201-Charge |
Charge syndrome |
CHD7 8q12.2 |
|
P203-PKLR |
Haemolytic Anaemia, hereditary non-spherocytic |
PKLR 1q22 |
|
P205-XLP |
Lymphoproliferative syndrome, x-linked (XLP). Duncan disease |
SH2D1A Xq25 |
|
P207-F9 |
Factor IX deficiency, Christmas disease |
F9 Xq27.1 |
|
P208-Telomere-6 |
Subtelomere screening |
2p, 3p, 6p, 8p |
|
P209-GLDC |
Glycine encephalopathy |
GLDC 9p22 |
|
P210-BTK |
Agammaglobulinemia |
BTK Xq21.3-q22 |
|
P211-HSP region |
Hereditary Spastic Paraplegias (HSPs) region |
SPAST 2p22, NIPA1 15q11 |
|
P212-DBA |
Diamond-Blackfan anemia (DBA) |
RPS19 19q13.2, 8p23 |
|
P213-HSP2 |
Hereditary spastic paraplegias (HSPs) |
REEP1 (SPG31) 2p11.2, SPG7 16q24.3 |
|
P214-Col2A1 |
Skeletal disorders, Achondrogenesis, Chondrodysplasia, Early onset familial Osteoarthritis, SED congenital, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome, Spondyloepimetaphyseal |
COL2A1 12q13.11-q13.2 |
|
P215-EXT |
Multiple Osteochondromas |
EXT1 8q24, EXT2 11p12 |
|
P216-GDH mix1 |
Growth Hormone Deficiency (GHD) |
GH1, LHX4, POU1F1, HESX1, PROP1, GHRHR, LHX3 |
|
P217-IGF1R |
Insulin-like growth factor 1 receptor (IGF1R) |
IGFR1 15q26, IGFBP3 7p13 |
|
P218-LPL |
LPL deficiency |
LPL 8p21.3 |
|
P219-PAX6 |
Ocular malformations, hereditary |
PAX6 11p13, SOX2 3q26, WT1, 11p13 |
|
P220-Obesity |
Obesity |
LEPR, POMC, LEP, SIM1, MC3R, MC4R |
|
P221-LCA mix-1 |
Leber congenital amaurosis (LCA) |
AIPL1 17p13, CRB1 1q31, CRX 19q13, RPE65 1p31 |
|
P222-LCA mix-2 |
Leber congenital amaurosis (LCA) |
GUCY2D 17p13.1, RDH12 14q24, RPGRIP1 14q11, CEP290 12q21 |
|
P223-PHEX |
Hypophosphatemia, x-linked |
PHEX Xp22.2, FGF23 12p13 |
|
P224-PPARG |
Obesity, Diabetes mellitis type II, Familial partial lipodystrophy III, Colon cancer |
PPARG 3p25.1 |
|
P225-PTEN |
Cancer |
PTEN 10q23 |
|
P226-SDHD |
Paragangliomas (PGL) |
SDHD 11q23.1, SDHB 1p36.1, SDHC 1q23.3 |
|
P227-SerpinC1 |
Antithrombin (III) deficiency |
SerpinC1 1q25.1 |
|
P228-TRPS1 |
Trichorhinophalangeal syndrome type I (TRPS1), Langer-Giedion syndrome (LGS) |
TRPS1 8q24 |
|
P229-OPA1 |
Macular dystrophy |
OPA1 3q28, VMD2 11q13, RDS 6p21.2 |
|
P230-Telomere-7 |
Subtelomeric screeninig |
9p, 10p, 11p, 12p |
|
P231-FGF10 |
Autosomal dominant lacrimoauriculodentodigital (LADD) |
FGF10 5p13, FGFR2 10q26 |
|
P232-FGD1 |
Faciogenital dysplasia (FGDY), Aarskog-Scott syndrome |
FGD1 Xp11.21 |
|
P233-MID1 |
OPITZ syndrome |
MID1 Xp22 |
|
P234-GATA4 |
Cardiac septal defects |
GATA4 8p23, GATA3 10p15 |
|
P235-Retinitis |
Retinitis Pigmentosa |
RHO 3q21.3, RP1 8q11.2, IMPDH1 7q32, PRPF31 19q13.4 |
|
P236-ARMD mix-1 |
Age-related macular degeneration (ARMD) |
CFH, CFHR3, CFHR1, CFHR2, 1q23 |
|
P237-DNAI1 |
Primary ciliary dyskinesia (PCD) |
DNAI1 9p21 |
|
P238-DNAH5 |
Primary ciliary dyskinesia (PCD) |
DNAH5 5p15 |
|
P239-BRCA1 region |
Breast cancer |
BRCA1 region |
|
P240-BRIP1/CHEK1 |
Cancer |
BRIP1 17q22, CHEK1 11q22 |
|
P241-Mody |
Maturity-Onset Diabetes of the Young (MODY) |
HNF4A 20q13, GCK 7p13, HNF1A 12q24, IPF1 13q12, HNF1B 17q12, NEUROD1 2q31 |
|
P242-Pancreatitis |
Hereditary Pancreatitis (HP) |
PRSS1 7q34, SPINK1 5q32 |
|
P243-SERPING1 |
Hereditary angioedema (HAE) |
SERPING1 11q12.1 |
|
P244-AIP-MEN1 |
Multiple endocrine neoplasia (MEN) |
AIP 11q13, MEN1 11q13 |
|
P245-Microdeletion |
Microdeletion syndromes |
Various |
|
P248-MLH1-MSH2 |
Colon cancer, hereditary non-polyposis (HNPCC) |
MLH1 3p21.3, MSH2 2p21 |
|
P249-Telomere-8 |
Subtelomeric screening |
17p, 18p, 19p, 20p |
|
P250-DiGeorge |
DiGeorge syndrome |
22q11 |
|
P251-Neuroblastoma-1 |
Neuroblastoma |
1p36, 3p22/3p21.3 and 11q23 |
|
P252-Neuroblastoma-2 |
Neuroblastoma |
2p24.1/MYCN, 2q33, 17p13/TP53, 17q |
|
P253-Neuroblastoma-3 |
Neuroblastoma |
Chromosomes 4, 7, 9, 12, 14 |
|
P254-PSEN1 |
Alzheimer's disease (AD) |
PSEN1 14q24.2 |
|
P255-ALDOB |
Fructose intolerance |
ALDOB 9q21 |
|
P256-FLCN |
Birt-Hogg-Dube syndrome |
FLCN 17p11, Smith-Magenis syndrome region |
|
P257-TERT |
Dyskeratosis congenita (DC) |
DKC1 Xq28 |
|
P258-SMARCB1 |
Rhabdoid tumors |
SMARCB1 22q11.2 |
|
P259-Coffin Lowry |
Coffin-Lowry Syndrome (CLS) |
RPS6KA3 Xp22.2-p22.1, PQBP1 Xq11.2 |
|
P262-GHI |
Growth Hormone Insensitivity (GHI) |
GHR 5p12, JAK2 9q24.1, IGF1 12q23, STAT5B 17q21 |
|
P264-Telomere-9 |
Subtelomeric screening |
1q, 2q, 3q, 4q |
|
P265-PROC |
Protein C deficiency (PROC) |
PROC 2q14.3 |
|
P266-CLCNKB |
Bartter syndrome |
CLCNKB 1p36 |
|
P267-Dandy-Walker |
Dandy-Walker Malformation (DWM) |
ZIC1, ZIC4 3p2, VLDLR 9p24 |
|
P268-DYSF |
Limb girdle muscular dystrophies (LGMD) |
DYSF 2p13 |
|
P269-FRMD7 |
Congenital nystagmus |
Xq26 (NYS1 locus), FRMD7 |
|
P271-Col1A1 |
Osteogenesis imperfecta (OI) |
COL1A1 17q21.3 |
|
P272-Col1A2 |
Osteogenesis imperfecta (OI) |
COL1A2 7q21.3 |
|
P274-Startle |
Startle disease, Hyperekplexia |
GLRB 4q32.1, GLRA1 5q33.1, SLC6A5 11p15.1 |
|
P275-MAPT |
Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration, progressive supranuclear palsy |
MAPT 17q21 |
|
P277-Telomere-10 |
Subtelomeric screening |
5q, 6q, 7q, 8q |
|
P279-CACNA1A |
Episodic ataxia 2, Familial hemiplegic migraine |
CACNA1A |
|
P280-SLC26A4 |
Pendred syndrome |
SLC26A4 7q31 |
|
P283-TPMT |
Thiopurine S-methyltransferase (TPMT; S-adenosyl-L-methionine:thiopurine S-methyltransferase) |
TPMT 6p22, DPYD 1p22 |
|
P286-Telomere-11 |
Subtelomeric screening |
9q, 10q, 11q, 12q |
|
P289-LMX1B |
Nail patella syndrome (NPS) |
LMX1B 9q33 |
|
P290-Prenatal |
Prenatal microdeletion screening |
Various |
|
P291-Telomere-12 |
Subtelomeric screening |
13q, 14q, 15q, 16q |
|
P292-PCDH15 |
Usher syndrome |
PCDH15 10q21.1 |
|
P296-HUS |
Hemolytic uremic syndrome, typical (aHUS) |
CFH 4q25 |
|
P299-NOS |
Neurodegenerative diseases |
NOS1 12q24 |
|
P300-Reference-2 |
Synthetic 'home-made' probes |
Reference probes + control fragments |
|
P304-IRF6 |
Van der Woude syndrome (VWS) |
IRF6 1q32.2 |
|
P306-SPG11 |
Hereditary spastic paraplegia (HSP or SPG) |
SPG11 or KIAA1840 15q21.1 |
|
P308-GAB2/MET |
Alzheimer's disease, late-oneset (LOAD), Papillary renal carcinoma |
GAB2 11q14, MET 7q31 |
|
P313-CREBBP |
Rubinstein–Taybi syndrome (RSTS) |
CREBBP 16p13.3 |
Download |
P315-EGFR |
Tumours, solid |
EGFR 7p11 |
|
P316-Ataxias |
Recessive Ataxias |
SETX 9p34.13, APTX 9p13.3, FXN 9p13 |
|
P324-22q11 mix-2 |
22q11 |
22q11 |
|
| |
|
|
SALSA
MLPA kits for Mice DNA and RNA |
|
|
PM200-Mouse reference |
Synthetic 'home-made' probes |
Mouse reference probes + control fragments |
|
RM002-Apoptosis |
Mouse apoptosis mRNA |
Various |
|
| |
|
|
SALSA
MLPA kits for Human RNA |
|
|
R009-Inflammation |
Inflammation mRNA |
Various |
|
R011-Apoptosis |
Apoptosis mRNA |
Various |
|
| |
|
ServiceXS
human disease related kits |
|
α-globinXS |
alpha-thalassemia |
HBA
(alpha-hemoglobin) gene cluster |
|
β-globinXS |
beta-thalassemia;
Hereditary Persistence of Fetal Hemoglobin (HPFH) syndromes |
HBB
(bete-hemoglobin) gene cluster |
|
CREBBP |
Rubinstein-Taybi
syndrome (RSTS) |
CREBBP, CREB-binding protein, CBP
|
|
DYFS |
Limb-Girdle
Muscular Dystrophy |
|
|
EP300 |
Rubinstein-Taybi
syndrome (RSTS) |
EP300 |
|
EXT1/EXT2 |
Hereditary
Multiple Exostoses (inherited bone disorder) |
EXT1,
EXT2 |
|
WHS/PRDS |
Wolf-Hirschhorn
syndrome, Pitt-Rogers-Danks syndrome |
|
|
