MLPA® Kits

For a description how to create and adapt MLPA Kits, that are not available on this page, please have a look at our User Manual MLPA.

Import of SALSA MLPA® kit descriptions via the SEQUENCE Pilot operation "Mixes [master file] / button [Import]".

Mix
Version
Date
Region
Application
Vs. 15
01-02-2012
SMN1, SMN2, 5q13 Spinal Muscular Atrophy (SMA)
Vs. 17
03-03-2012
SMN1, SMN2, 5q13 Spinal Muscular Atrophy (SMA)
Vs. 18
21-12-2012
SMN1, SMN2, 5q13 Spinal Muscular Atrophy (SMA)
Vs. 19
01-12-2012
SMN1, SMN2, 5q13 Spinal Muscular Atrophy (SMA)
Vs. 20
06-08-2013
SMN1, SMN2, 5q13 Spinal Muscular Atrophy (SMA)
Vs. 24 10-03-2015 SMN1, SMN2, 5q13 Spinal Muscular Atrophy (SMA)
Vs. 01 21-07-2015 SMN1, SMN2, 5q13 Spinal Muscular Atrophy (SMA)
P060-B2 Vs. B2-02 24-03-2016 SMN1, SMN2, 5q13 Spinal Muscular Atrophy (SMA)
P060-B2 Vs. B2-04 07-10-2016 SMN1, SMN2, 5q13 Spinal Muscular Atrophy (SMA)
Vs. 03
11-10-2008
LIS1, DCX, POMT1, POMGnT1, FLNA Lissencephaly
Vs. 04
18-02-2010
LIS1, DCX, POMT1, POMGnT1, FLNA Lissencephaly
Vs. 09
02-04-2013
LIS1, DCX, POMT1, POMGnT1, FLNA Lissencephaly
Vs. 10
14-03-2014
LIS1, DCX, POMT1, POMGnT1, FLNA Lissencephaly
P061-C1 Vs. 11 29-02-2016 LIS1, DCX, POMT1, POMGnT1, FLNA Lissencephaly
P061-D1 Vs. 13 31-01-2017 LIS1, DCX, POMT1, POMGnT1, FLNA Lissencephaly
Vs. 14
20-02-2012
LDLR 19p13.2 Hypercholesterolemia, familial
Vs. 15
14-03-2012
LDLR 19p13.2 Hypercholesterolemia, familial
Vs. 17
01-03-2013
LDLR 19p13.2 Hypercholesterolemia, familial
Vs. 18
05-06-2014
LDLR 19p13.2 Hypercholesterolemia, familial
Vs. D2-01
10-03-2016
LDLR 19p13.2 Hypercholesterolemia, familial
Vs. D2-02
04-05-2017
LDLR 19p13.2 Hypercholesterolemia, familial
Vs. 04
18-07-2014
FHIT (3p14.2) and WWOX (16q23.1) Diverse tumour types, epileptic encephalopathy
Vs. 05
04-06-2015
FHIT (3p14.2) and WWOX (16q23.1) Diverse tumour types, epileptic encephalopathy
Vs. 06
15-02-2018
FHIT (3p14.2) and WWOX (16q23.1) Diverse tumour types, epileptic encephalopathy
Vs. 17
10-09-2009
various Mental Retardation; 1p-deletion, Williams, Smith-Magenis, Miller-Dieker, DiGeorge, Prader-Willi, Alagille, Saethre-Chotzen, Sotos
P064-B3 Vs. 20 01-02-2012 various Mental Retardation; 1p-deletion, Williams, Smith-Magenis, Miller-Dieker, DiGeorge, Prader-Willi, Alagille, Saethre-Chotzen, Sotos
P064-C1 Vs. 22 02-04-2013 various Mental Retardation; 1p-deletion, Williams, Smith-Magenis, Miller-Dieker, DiGeorge, Prader-Willi, Alagille, Saethre-Chotzen, Sotos
Vs. 20
19-01-2012
FBN1 15q21.1, TGFBR2 3p22 Marfan syndrome
P065-B1 Vs. 21 30-11-2012 FBN1 15q21.1, TGFBR2 3p22 Marfan syndrome
P065-B1
Vs. 22
19-09-2014 FBN1 15q21.1, TGFBR2 3p22 Marfan syndrome
P065-B1
Vs. 23
19-09-2014 FBN1 15q21.1, TGFBR2 3p22 Marfan syndrome
P065-B1
Vs. 24
27-10-2016 FBN1 15q21.1, TGFBR2 3p22 Marfan syndrome
P065-C1
Vs. C1-01
05-09-2017 FBN1 15q21.1, TGFBR2 3p22 Marfan syndrome
Vs. 20
19-01-2012
FBN1 15q21.1, TGFBR2 3p22 Marfan syndrome
P066-B1 Vs. 21 30-11-2012 FBN1 15q21.1, TGFBR2 3p22 Marfan syndrome
P066-B2
Vs. 22
19-09-2014 FBN1 15q21.1, TGFBR2 3p22 Marfan syndrome
P066-B2
Vs. 23
19-09-2014 FBN1 15q21.1, TGFBR2 3p22 Marfan syndrome
P066-B2
Vs. 24
27-10-2016 FBN1 15q21.1, TGFBR2 3p22 Marfan syndrome
P066-C1
Vs. C1-01
05-09-2017 FBN1 15q21.1, TGFBR2 3p22 Marfan syndrome
Vs. 09
08-09-2008
PTCH 9q22.3 Gorlin syndrome
Vs. 10
22-02-2011
PTCH 9q22.3 Gorlin syndrome
Vs. 12 11-09-2012 PTCH 9q22.3 Gorlin syndrome
Vs. 13 21-12-2012 PTCH 9q22.3 Gorlin syndrome
Vs. 14 27-01-2015 PTCH 9q22.3 Gorlin syndrome
Vs. 02
21-05-2008
HMGSC2 1p13 Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (mHMGS)
P068-B1 Vs. 05 17-02-2012 HMGSC2 1p13 Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (mHMGS)
Vs. 20
09-05-2010
all subtelomeres Broad subtelomeric screening
Vs. 22
16-02-2012
all subtelomeres Broad subtelomeric screening
P070-B2 Vs. 35 16-02-2012 all subtelomerers Broad subtelomeric screening
P070-B2 Vs. 37 01-03-2013 all subtelomerers Broad subtelomeric screening
P070-B3 Vs. 38 14-11-2015 all subtelomerers Broad subtelomeric screening
Vs. 02
04-09-2008
LMNB1 5q23.2, PLP1 Xq22.2, NOTCH3 19p13.12 Leukodystrophy
Vs. 05
22-01-2012
LMNB1 5q23.2, PLP1 Xq22.2, NOTCH3 19p13.12 Leukodystrophy
Vs. 06
18-05-2012
LMNB1 5q23.2, PLP1 Xq22.2, NOTCH3 19p13.12 Leukodystrophy
Vs. 07
30-11-2012
LMNB1 5q23.2, PLP1 Xq22.2, NOTCH3 19p13.12 Leukodystrophy
Vs. 08
12-05-2014
LMNB1 5q23.2, PLP1 Xq22.2, NOTCH3 19p13.12 Leukodystrophy
Vs. 09
31-03-2016
LMNB1 5q23.2, PLP1 Xq22.2, NOTCH3 19p13.12 Leukodystrophy
Vs. 10
12-07-2011
MSH6 2p16 Hereditary nonpolyposis colon cancer (HNPCC)
P072-B2 Vs. 11 22-01-2012 MSH6 2p16 Hereditary nonpolyposis colon cancer (HNPCC)
P072-C1 Vs. 13 25-04-2013 MSH6 2p16 Hereditary nonpolyposis colon cancer (HNPCC)
P072-C1 Vs. 14 07-02-2014 MSH6 2p16 Hereditary nonpolyposis colon cancer (HNPCC)
P072-C1 Vs. 17 17-03-2015 MSH6 2p16 Hereditary nonpolyposis colon cancer (HNPCC)
P072-C1 Vs. 18 17-03-2017 MSH6 2p16 Hereditary nonpolyposis colon cancer (HNPCC)
P072-C1 Vs. 21 28-09-2017 MSH6 2p16 Hereditary nonpolyposis colon cancer (HNPCC)
P073-A1
Vs. 01
29-01-2016 Xq28; IKBKG, NEMO, IKBKGP Incontinentia Pigmenti
Vs. 02
23-03-2009
AR Xq12 Androgen insensitivity syndrome (AIS)
P074-A2 Vs. 05 16-08-2012 AR Xq12 Androgen insensitivity syndrome (AIS)
P074-A2 Vs. 06 30-11-2012 AR Xq12 Androgen insensitivity syndrome (AIS)
P074-A3 Vs. 07 07-01-2015 AR Xq12 Androgen insensitivity syndrome (AIS)
Vs. 01
26-11-2009
TCF4, FOXG1 Pitt-Hopkins syndrome, Congential variant of Rett syndrome
P075-A1 Vs. 07 02-12-2012 TCF4, FOXG1 Pitt-Hopkins syndrome, Congential variant of Rett syndrome
P075-B1 Vs. 08 04-07-2014 TCF4, FOXG1 Pitt-Hopkins syndrome, Congential variant of Rett syndrome
Vs. 01
23-10-2009
ACADVL, SLC22A5  
Vs. 04
22-01-2012
ACADVL, SLC22A5  
Vs. 05
21-12-2012
ACADVL, SLC22A5 VLCAD/Primary Carnitine
Vs. 01
26-06-2009
BRCA2 Breast cancer, hereditary
Vs. 03
07-11-2011
BRCA2 Breast cancer, hereditary
Vs. 04
02-12-2012
BRCA2 Breast cancer, hereditary
Vs. 05
23-01-2014
BRCA2 Breast cancer, hereditary
Vs. 01
15-09-2017
BRCA2 Breast cancer, hereditary
Vs. 05
02-12-2012
various Breast tumour
Vs. 06
10-11-2009
OTC Xp21.1 Ornithine cabamoyltransferase (OTC)
Vs. 07
20-05-2011
OTC Xp21.1 Ornithine cabamoyltransferase (OTC)
Vs. 10
01-03-2013
OTC Xp21.1 Ornithine cabamoyltransferase (OTC)
Vs. 12
27-11-2015
OTC Xp21.1 Ornithine cabamoyltransferase (OTC)