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. 08
20-03-2010
Limb malformations, heart SALL1 16q12, SALL4 20q13, TBX5 12q24
Vs. 09
13-11-2011
Limb malformations, heart SALL1 16q12, SALL4 20q13, TBX5 12q24
Vs. 10
21-12-2012
Limb malformations, heart SALL1 16q12, SALL4 20q13, TBX5 12q24
Vs. 11
18-03-2014
Limb malformations, heart SALL1 16q12, SALL4 20q13, TBX5 12q24
Vs. 12
17-02-2016
Limb malformations, heart SALL1 16q12, SALL4 20q13, TBX5 12q24
Vs. 10
15-09-2008
Centromeres Centromeric screening
Vs. 12
10-12-2011
Centromeres Centromeric screening
Vs. 13
09-12-2012
Centromeres Centromeric screening
Vs. 16
02-03-2015
Centromeres Centromeric screening
Vs. 10
15-09-2008
Centromeres Centromeric screening
Vs. 12
10-12-2011
Centromeres Centromeric screening
Vs. 13
09-12-2012
Centromeres Centromeric screening
Vs. 16
02-03-2015
Centromeres Centromeric screening
Vs. 05
18-09-2008
EDA Xq12-q13.1 Ectodermal dysplasia, x-linked (XLHED)
Vs. 07
23-11-2009
EDA Xq12-q13.1 Ectodermal dysplasia, x-linked (XLHED)
Vs. 10
19-11-2013
EDA Xq12-q13.1 Ectodermal dysplasia, x-linked (XLHED)
Vs. 08
19-11-2009
JAG1 20p12.2 Alagille Syndrome (AGS)
Vs. 09
13-11-2011
JAG1 20p12.2 Alagille Syndrome (AGS)
Vs. 10
21-12-2012
JAG1 20p12.2 Alagille Syndrome (AGS)
Vs. 11
10-04-2014
JAG1 20p12.2 Alagille Syndrome (AGS)
Vs. 12
28-04-2017
JAG1 20p12.2 Alagille Syndrome (AGS)
Vs. 03
25-05-2009
SOX9 17q24.3, NR5A1 9p33, WNT4 1p36.12, NROB1 Xp21.2 Sex determination
Vs. 05
22-04-2011
SOX9 17q24.3, NR5A1 9p33, WNT4 1p36.12, NROB1 Xp21.2 Sex determination
Vs. 06
15-09-2011
SOX9 17q24.3, NR5A1 9p33, WNT4 1p36.12, NROB1 Xp21.2 Sex determination
Vs. 07
09-12-2012
SOX9 17q24.3, NR5A1 9p33, WNT4 1p36.12, NROB1 Xp21.2 Sex determination
Vs. 09
19-11-2015
SOX9 17q24.3, NR5A1 9p33, WNT4 1p36.12, NROB1 Xp21.2 Sex determination
Vs. 07
30-09-2010
PAX3 2q35, MITF 3p14 Waardenburg syndrome (WS) type II, WS1, WS3
Vs. 08
08-01-2012
PAX3 2q35, MITF 3p14 Waardenburg syndrome (WS) type II, WS1, WS3
Vs. 09
21-12-2012
PAX3 2q35, MITF 3p14 Waardenburg syndrome (WS) type II, WS1, WS3
Vs. 10
15-07-2015
PAX3 2q35, MITF 3p14 Waardenburg syndrome (WS) type II, WS1, WS3
Vs. 11
14-10-2016
PAX3 2q35, MITF 3p14 Waardenburg syndrome (WS) type II, WS1, WS3
Vs. 02
25-10-2010
PTCH, SHH, ZIC2, SIX3, TGIF TMEM1, FBXW11 Holoprosencephaly (HPE)
Vs. 03
21-02-2012
PTCH, SHH, ZIC2, SIX3, TGIF TMEM1, FBXW11 Holoprosencephaly (HPE)
Vs. 04
21-12-2012
PTCH, SHH, ZIC2, SIX3, TGIF TMEM1, FBXW11 Holoprosencephaly (HPE)
Vs. 05
15-12-2014
PTCH, SHH, ZIC2, SIX3, TGIF TMEM1, FBXW11 Holoprosencephaly (HPE)
Vs. 06
07-12-2015
PTCH, SHH, ZIC2, SIX3, TGIF TMEM1, FBXW11 Holoprosencephaly (HPE)
Vs. 05
23-05-2008
22q13.3, SHANK3, ACR, RABL2B Phelan-Mcdermid syndrome, Telomeric monosomy 22q13.3
Vs. 07
08-11-2008
22q13.3, SHANK3, ACR, RABL2B Phelan-Mcdermid syndrome, Telomeric monosomy 22q13.3
Vs. 08
13-11-2011
22q13.3, SHANK3, ACR, RABL2B Phelan-Mcdermid syndrome, Telomeric monosomy 22q13.3
Vs. 10
21-12-2012
22q13.3, SHANK3, ACR, RABL2B Phelan-Mcdermid syndrome, Telomeric monosomy 22q13.3
Vs. 12
01-06-2016
22q13.3, SHANK3, ACR, RABL2B Phelan-Mcdermid syndrome, Telomeric monosomy 22q13.3
Vs. 10
20-02-2013
CDKL5 Xp22, NTNG1 1p13.3, ARX Xp22.1 Rett syndrome, atypcial
Vs. 11
25-04-2013
CDKL5 Xp22, NTNG1 1p13.3, ARX Xp22.1 Rett syndrome, atypcial
Vs. 12
25-10-2013
CDKL5 Xp22, NTNG1 1p13.3, ARX Xp22.1 Rett syndrome, atypcial
P189-C1 Vs. 13 12-10-2015 CDKL5 Xp22, NTNG1 1p13.3, ARX Xp22.1 Rett syndrome, atypcial
P189-C2 Vs. 14 03-03-2017 CDKL5 Xp22, NTNG1 1p13.3, ARX Xp22.1 Rett syndrome, atypcial
Vs. 08
13-10-2010
CHEK2 22q12, ATM , PTEN, TP53 Breast cancer suspectibility
Vs. 09
13-11-2011
CHEK2 22q12, ATM , PTEN, TP53 Breast cancer suspectibility
Vs. 13
01-03-2013
CHEK2 22q12, ATM , PTEN, TP53 Breast cancer suspectibility
Vs. 14
30-07-2013
CHEK2 22q12, ATM , PTEN, TP53 Breast cancer suspectibility
Vs. 15
31-03-2014
CHEK2 22q12, ATM , PTEN, TP53 Breast cancer suspectibility
Vs. 16
30-04-2014
CHEK2 22q12, ATM , PTEN, TP53 Breast cancer suspectibility
Vs. 18
09-03-2015
CHEK2 22q12, ATM , PTEN, TP53 Breast cancer suspectibility
Vs. 20
16-08-2016
CHEK2 22q12, ATM , PTEN, TP53 Breast cancer suspectibility
Vs. 21
15-09-2017
CHEK2 22q12, ATM , PTEN, TP53 Breast cancer suspectibility
Vs. 09
17-12-2011
COL4A5 Xq22 Alport syndrome, Hereditary Nephritis
P191-B2 Vs. 10 14-12-2012 COL4A5 Xq22 Alport syndrome, Hereditary Nephritis
P191-B2 Vs. 11 07-01-2013 COL4A5 Xq22 Alport syndrome, Hereditary Nephritis
P191-B2 Vs. 12 15-07-2015 COL4A5 Xq22 Alport syndrome, Hereditary Nephritis
P191-B3 Vs. 13 30-10-2015 COL4A5 Xq22 Alport syndrome, Hereditary Nephritis
Vs. 09
17-12-2011
COL4A5 Xq22 Alport syndrome, Hereditary Nephritis
P192-B2 Vs. 10 14-12-2012 COL4A5 Xq22 Alport syndrome, Hereditary Nephritis
P192-B2 Vs. 11 07-01-2013 COL4A5 Xq22 Alport syndrome, Hereditary Nephritis
P192-B2 Vs. 11 15-07-2015 COL4A5 Xq22 Alport syndrome, Hereditary Nephritis
P192-B3 Vs. 13 30-10-2015 COL4A5 Xq22 Alport syndrome, Hereditary Nephritis
Vs. 03
27-01-2012
NPC1, NPC2 Niemann-Pick type C disease (NPC)
P193-A2 Vs. 04 30-08-2012 NPC1, NPC2 Niemann-Pick type C disease (NPC)
P193-B1 Vs. 07 17-09-2014 NPC1, NPC2 Niemann-Pick type C disease (NPC)
P193-B2 Vs. 08 30-05-2017 NPC1, NPC2 Niemann-Pick type C disease (NPC)
Vs. 03
18-09-2008
MCCC1 3q27, MCCC2 5q12 3-methylcrotonylglycinuria I and II
Vs. 06
27-11-2011
MCCC1 3q27, MCCC2 5q12 3-methylcrotonylglycinuria I and II
Vs. 07
10-12-2012
MCCC1 3q27, MCCC2 5q12 3-methylcrotonylglycinuria I and II
Vs. 07
27-11-2011
TNNT2 1q32 Hypertrophic cardiomyopathy familial, Dilated cardiomyopathy
Vs. 08
10-12-2012
TNNT2 1q32 Hypertrophic cardiomyopathy familial, Dilated cardiomyopathy
P196-B1 Vs. 09 15-07-2015 TNNT2 1q32 Hypertrophic cardiomyopathy familial, Dilated cardiomyopathy
Vs. 07
23-09-2010
KCNQ3 8q24.22 Neonatal convulsions type 2, familial (BFNC2), Epilepsy benign neonatal type 2 (EBN2)
P197-A1 Vs. 08 27-11-2011 KCNQ3 8q24.22 Neonatal convulsions type 2, familial (BFNC2), Epilepsy benign neonatal type 2 (EBN2)
P197-A2 Vs. 10 10-12-2012 KCNQ3 8q24.22 Neonatal convulsions type 2, familial (BFNC2), Epilepsy benign neonatal type 2 (EBN2)
P197-A2 Vs. 11 15-07-2015 KCNQ3 8q24.22 Neonatal convulsions type 2, familial (BFNC2), Epilepsy benign neonatal type 2 (EBN2)
P197-A3 Vs. 12 25-05-2016 KCNQ3 8q24.22 Neonatal convulsions type 2, familial (BFNC2), Epilepsy benign neonatal type 2 (EBN2)
Vs. 07
10-12-2011
FH Fumarase deficiency (FH)
Vs. 08
10-12-2012
FH Fumarase deficiency (FH)
Vs. 10
11-03-2015
FH Fumarase deficiency (FH)
Vs. 04
28-07-2010
HEXA 15q23 Tay-sachs disease
Vs. 05
10-12-2011
HEXA 15q23 Tay-sachs disease
Vs. 08
02-04-2014
HEXA 15q23 Tay-sachs disease
Vs. 09
26-02-2015
HEXA 15q23 Tay-sachs disease