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MLPA® - MRC Holland Kits

Please note before download:

  • Mix descriptions are only free of charge for customers with maintenance contract.
  • Don't hesitate to contact us, if there are any mix descriptions missing on this website.

  • To set up a new mix descriptions for you, still available at MRC Hollands website, please provide us the name of the mix (e.g. P002-D1), the version of the mix (e.g. Vs.02) and the date of its release.

  • To set up a new mix descriptions for you, not available at MRC Hollands website any more, please provide us the corresponding document by email or fax (+49-7822-440150-20).

Download

  • log into your SEQUENCE Pilot installation
  • go to category MLPA®
  • go to operation Mixes [master file]
  • press button [Import] and select the downloaded mme-file
  • if the corresponding mix already exists in your SEQUENE_PILOT installation you will be asked "Do you want to save the mix with a new name / lot?"; please press button [Yes] and complete the fields in the following dialogue; press button [OK] to save your entries
  • if the mix doesn't exist yet just press button [OK] in the following dialogue
MIX
VERSION
DATE
REGION
APPLICATION
DOWNLOAD
MIX
P180-B3
VERSION
Vs. 12
DATE
17-02-2016
REGION
Limb malformations, heart
APPLICATION
SALL1 16q12, SALL4 20q13, TBX5 12q24
DOWNLOAD
MIX
P180-B4
VERSION
Vs. B4-01
DATE
22-08-2019
REGION
Townes-Brocks syndrome (TBS); Duane-radial ray syndrome (DRRS); Holt-Oram syndrome, SALL4-related; Acro-renal-ocular syndrome (AROS); Holt-Oram syndrome (HOS)
APPLICATION
SALL1 16q12.1; SALL4 20q13.2; TBX5 12q24.21
DOWNLOAD
MIX
P181-A2
VERSION
Vs. 13
DATE
09-12-2012
REGION
Centromeres
APPLICATION
Centromeric screening
DOWNLOAD
MIX
P181-B1
VERSION
Vs. 16
DATE
02-03-2015
REGION
Centromeres
APPLICATION
Centromeric screening
DOWNLOAD
MIX
P181-B2
VERSION
Vs. B2-01
DATE
18-01-2019
REGION
Centromeres
APPLICATION
Centromeric testing
DOWNLOAD
MIX
P181-C1
VERSION
Vs. C1-02
DATE
13-04-2022
REGION
Centromeres
APPLICATION
Centromeric testing
DOWNLOAD
MIX
P182-B1
VERSION
Vs. 13
DATE
09-12-2012
REGION
Centromeres
APPLICATION
Centromeric screening
DOWNLOAD
MIX
P182-B2
VERSION
Vs. 16
DATE
02-03-2015
REGION
Centromeres
APPLICATION
Centromeric screening
DOWNLOAD
MIX
P183-C1
VERSION
Vs. 10
DATE
19-11-2013
REGION
EDA Xq12-q13.1
APPLICATION
Ectodermal dysplasia, x-linked (XLHED)
DOWNLOAD
MIX
P183-C1
VERSION
Vs. 11
DATE
11-07-2017
REGION
EDA Xq12-q13.1
APPLICATION
Ectodermal dysplasia, x-linked (XLHED)
DOWNLOAD
MIX
P183-C1
VERSION
Vs. C1-01
DATE
29-04-2021
REGION
EDA Xq13.1; EDAR 2q13; EDARADD 1q42.3; WNT10A 2q35
APPLICATION
Hypohidrotic ectodermal dysplasia (HED); Hypohidrotic ectodermal dysplasia, X-linked (XLHED)
DOWNLOAD
MIX
P184-C2
VERSION
Vs. 11
DATE
10-04-2014
REGION
JAG1 20p12.2
APPLICATION
Alagille Syndrome (AGS)
DOWNLOAD
MIX
P184-C3
VERSION
Vs. 12
DATE
28-04-2017
REGION
JAG1 20p12.2
APPLICATION
Alagille Syndrome (AGS)
DOWNLOAD
MIX
P184-C4
VERSION
Vs. C4-01
DATE
19-11-2020
REGION
JAG1 20p12.2
APPLICATION
Alagille syndrome (ALGS)
DOWNLOAD
MIX
P185-C2
VERSION
Vs. 10
DATE
18-07-2016
REGION
SOX9 17q24.3, NR5A1 9p33, WNT4 1p36.12, NROB1 Xp21.2
APPLICATION
Sex determination
DOWNLOAD
MIX
P185-C3
VERSION
Vs. C3-01
DATE
18-07-2019
REGION
SOX9 17q24.3, NR5A1 9p33, WNT4 1p36.12, NROB1 Xp21.2
APPLICATION
Sex determination
DOWNLOAD
MIX
P185-C3
VERSION
Vs. C3-02
DATE
05-07-2022
REGION
SOX9 17q24.3; NR5A1 9q33; WNT4 1p36.12; CXorf21 Xp21.2; NR0B1 Xp21.2; SRY Yp11.31; UTY Yq11.221
APPLICATION
Sex determination
DOWNLOAD
MIX
P186-C1
VERSION
Vs. 10
DATE
15-07-2015
REGION
PAX3 2q35, MITF 3p14
APPLICATION
Waardenburg syndrome (WS) type II, WS1, WS3
DOWNLOAD
MIX
P186-C2
VERSION
Vs. 11
DATE
14-10-2016
REGION
PAX3 2q35, MITF 3p14
APPLICATION
Waardenburg syndrome (WS) type II, WS1, WS3
DOWNLOAD
MIX
P186-C3
VERSION
Vs. C3-01
DATE
11-08-2020
REGION
PAX3 2q36.1; MITF 3p14.1; SOX10 22q13.1
APPLICATION
Waardenburg syndrome type 1 (WS1), 2A (WS2A), 2E (WS2E), 3 (WS3), 4C (WS4C)
DOWNLOAD
MIX
P187-B2
VERSION
Vs. 06
DATE
07-12-2015
REGION
PTCH, SHH, ZIC2, SIX3, TGIF TMEM1, FBXW11
APPLICATION
Holoprosencephaly (HPE)
DOWNLOAD
MIX
P187-B3
VERSION
Vs. 07
DATE
14-11-2017
REGION
PTCH, SHH, ZIC2, SIX3, TGIF TMEM1, FBXW11
APPLICATION
Holoprosencephaly (HPE)
DOWNLOAD
MIX
P187-B4
VERSION
Vs. B4-01
DATE
11-01-2021
REGION
SHH 7q36.3; ZIC2 13q32.3; SIX3 2p21; TGIF 18p11.31; FBXW11 5q35.1; PTCH1 9q22.32; GLI2 2q14.2; TRAPPC10 21q22.3
APPLICATION
Holoprosencephaly (HPE)
DOWNLOAD
MIX
P188-B2
VERSION
Vs. 12
DATE
01-06-2016
REGION
22q13.3, SHANK3, ACR, RABL2B
APPLICATION
Phelan-Mcdermid syndrome, Telomeric monosomy 22q13.3
DOWNLOAD
MIX
P188-C1
VERSION
Vs. C1-01
DATE
25-04-2019
REGION
22q13.3; SHANK3 22q13.33; ACR 22q13.33; RABL2B 22q13.33
APPLICATION
Phelan-Mcdermid syndrome
DOWNLOAD
MIX
P189-C2
VERSION
Vs. 14
DATE
03-03-2017
REGION
CDKL5 Xp22, NTNG1 1p13.3, ARX Xp22.1
APPLICATION
Rett syndrome, atypcial
DOWNLOAD
MIX
P189-C2
VERSION
Vs. C2-01
DATE
19-02-2018
REGION
CDKL5 Xp22.13; NTNG1 1p13.3; ARX Xp21.3; FOXG1 14q12
APPLICATION
RETT syndrome, atypical; X-linked infantile spasm syndrome; FOXG1 syndrome
DOWNLOAD
MIX
P189-C2
VERSION
Vs. C2-03
DATE
16-03-2021
REGION
CDKL5 Xp22.13; NTNG1 1p13.3; ARX Xp21.3; FOXG1 14q12
APPLICATION
RETT syndrome, atypical; Early infantile epileptic encephalopathy; FOXG1 syndrome
DOWNLOAD
MIX
P190-C1
VERSION
Vs. 21
DATE
15-09-2017
REGION
CHEK2 22q12, ATM , PTEN, TP53
APPLICATION
Breast cancer suspectibility
DOWNLOAD
MIX
P190-D1
VERSION
Vs. D1-01
DATE
05-10-2018
REGION
CHEK2 22q12, ATM , PTEN, TP53
APPLICATION
Breast cancer suspectibility
DOWNLOAD
MIX
P190-D1
VERSION
Vs. D1-03
DATE
22-10-2020
REGION
CHEK2 22q12.1; ATM 11q22.3; TP53 17p13.1
APPLICATION
Susceptibility to breast cancer; Susceptibility to other cancer types
DOWNLOAD
MIX
P190-D1
VERSION
Vs. D1-04
DATE
04-05-2021
REGION
CHEK2 22q12.1; ATM 11q22.3; TP53 17p13.1
APPLICATION
Susceptibility to breast cancer; Susceptibility to other cancer types
DOWNLOAD
MIX
P190-D1
VERSION
Vs. D1-05
DATE
19-11-2021
REGION
CHEK2 22q12.1; ATM 11q22.3; TP53 17p13.1
APPLICATION
Susceptibility to breast cancer; Susceptibility to other cancer types
DOWNLOAD
MIX
P190-D1
VERSION
Vs. D1-06
DATE
08-11-2022
REGION
CHEK2 22q12.1; ATM 11q22.3; TP53 17p13.1
APPLICATION
Susceptibility to breast cancer; Susceptibility to other cancer types
DOWNLOAD
MIX
P191-B3
VERSION
Vs. 13
DATE
30-10-2015
REGION
COL4A5 Xq22
APPLICATION
Alport syndrome, Hereditary Nephritis
DOWNLOAD
MIX
P191-B4
VERSION
Vs. B4-01
DATE
15-08-2019
REGION
COL4A5 Xq22.3
APPLICATION
Alport syndrome, X-linked
DOWNLOAD
MIX
P191-B4
VERSION
Vs. B4-02
DATE
19-05-2023
REGION
COL4A5 Xq22.3
APPLICATION
Alport syndrome, X-linked
DOWNLOAD
MIX
P192-B3
VERSION
Vs. 13
DATE
30-10-2015
REGION
COL4A5 Xq22
APPLICATION
Alport syndrome, Hereditary Nephritis
DOWNLOAD
MIX
P192-B4
VERSION
Vs. B4-01
DATE
15-08-2019
REGION
COL4A5 Xq22.3
APPLICATION
Alport syndrome, X-linked
DOWNLOAD
MIX
P192-B4
VERSION
Vs. B4-02
DATE
19-05-2023
REGION
COL4A5 Xq22.3
APPLICATION
Alport syndrome, X-linked
DOWNLOAD
MIX
P193-B1
VERSION
Vs. 07
DATE
17-09-2014
REGION
NPC1, NPC2
APPLICATION
Niemann-Pick type C disease (NPC)
DOWNLOAD
MIX
P193-B2
VERSION
Vs. 08
DATE
30-05-2017
REGION
NPC1, NPC2
APPLICATION
Niemann-Pick type C disease (NPC)
DOWNLOAD
MIX
P193-B3
VERSION
Vs. B3-01
DATE
11-01-2021
REGION
NPC1 18q11.2; NPC2 14q24.3; SMPD1 11p15.4
APPLICATION
Niemann-Pick type C disease (NPC)
DOWNLOAD
MIX
P194-A2
VERSION
Vs. 06
DATE
27-11-2011
REGION
MCCC1 3q27, MCCC2 5q12
APPLICATION
3-methylcrotonylglycinuria I and II
DOWNLOAD
MIX
P194-A2
VERSION
Vs. 07
DATE
10-12-2012
REGION
MCCC1 3q27, MCCC2 5q12
APPLICATION
3-methylcrotonylglycinuria I and II
DOWNLOAD
MIX
P196-B1
VERSION
Vs. 09
DATE
15-07-2015
REGION
TNNT2 1q32
APPLICATION
Hypertrophic cardiomyopathy familial, Dilated cardiomyopathy
DOWNLOAD
MIX
P196-B1
VERSION
Vs. 12
DATE
23-09-2017
REGION
TNNT2 1q32.1; BAG3 10q26.11
APPLICATION
Hypertrophic cardiomyopathy familial, Dilated cardiomyopathy
DOWNLOAD
MIX
P196-B2
VERSION
Vs. B2-01
DATE
16-04-2021
REGION
TNNT2 1q32.1; BAG3 10q26.11
APPLICATION
Hypertrophic cardiomyopathy, familial; Dilated cardiomyopathy
DOWNLOAD
MIX
P197-A3
VERSION
Vs. 12
DATE
25-05-2016
REGION
KCNQ3 8q24.22
APPLICATION
Neonatal convulsions type 2, familial (BFNC2), Epilepsy benign neonatal type 2 (EBN2)
DOWNLOAD
MIX
P197-A3
VERSION
Vs. 13
DATE
15-09-2017
REGION
KCNQ3 8q24.22; CHRNA4 20q13.33; EPM2A 6q24.3; NHLRC1 6p22.3; CHRNB2 1q21.3; KCNQ1 11p55.5-4
APPLICATION
Neonatal convulsions type 2, familial (BFNC2), Epilepsy benign neonatal type 2 (EBN2)
DOWNLOAD
MIX
P197-A4
VERSION
Vs. A4-01
DATE
24-03-2020
REGION
KCNQ3 8q24.22; CHRNA4 20q13.33; EPM2A 6q24.3; NHLRC1 6p22.3; CHRNB2 1q21.3; KCNQ1 11p55.5-4
APPLICATION
Neonatal convulsions type 2, familial (BFNC2), Epilepsy benign neonatal type 2 (EBN2)
DOWNLOAD
MIX
P197-A4
VERSION
Vs. A4-02
DATE
05-07-2022
REGION
KCNQ3 8q24.22; CHRNA4 20q13.33; EPM2A 6q24.3; NHLRC1 6p22.3; CHRNB2 1q21.3; KCNQ1 11p55.5-4
APPLICATION
Neonatal convulsions type 2, familial (BFNC2), Epilepsy benign neonatal type 2 (EBN2)
DOWNLOAD
MIX
P198-A2
VERSION
Vs. 08
DATE
10-12-2012
REGION
FH
APPLICATION
Fumarase deficiency (FH)
DOWNLOAD
MIX
P198-A3
VERSION
Vs. 10
DATE
11-03-2015
REGION
FH
APPLICATION
Fumarase deficiency (FH)
DOWNLOAD
MIX
P198-A4
VERSION
Vs. A4-01
DATE
11-11-2020
REGION
FH 1q43
APPLICATION
Fumarase deficiency (FH)
DOWNLOAD
MIX
P199-B2
VERSION
Vs. 10
DATE
16-03-2017
REGION
HEXA 15q23
APPLICATION
Tay-sachs disease
DOWNLOAD
MIX
P199-B3
VERSION
Vs. B3-01
DATE
12-02-2019
REGION
HEXA 15q23
APPLICATION
Tay-sachs disease
DOWNLOAD