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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
P140-C1
VERSION
Vs. C1-03
DATE
31-01-2019
REGION
HBA 16p
APPLICATION
Thalassemisas, Alpha
DOWNLOAD
MIX
P140-C1
VERSION
Vs. C1-04
DATE
12-11-2019
REGION
HBA 16p13.3
APPLICATION
Alpha-thalassemia
DOWNLOAD
MIX
P140-C1
VERSION
Vs. C1-05
DATE
11-05-2021
REGION
HBA 16p13.3
APPLICATION
Alpha-thalassemia
DOWNLOAD
MIX
P140-C1
VERSION
Vs. C1-06
DATE
05-04-2023
REGION
HBA 16p13.3
APPLICATION
Alpha-thalassemia
DOWNLOAD
MIX
P141-A2
VERSION
Vs. 14
DATE
20-11-2015
REGION
NIPBL 5q13.1
APPLICATION
Cornelia de Lange syndrome (CDLS)
DOWNLOAD
MIX
P141-A3
VERSION
Vs. 15
DATE
05-01-2017
REGION
NIPBL 5q13.1
APPLICATION
Cornelia de Lange syndrome (CDLS)
DOWNLOAD
MIX
P141-A4
VERSION
Vs. A4-01
DATE
22-09-2020
REGION
NIPBL 5p13.2
APPLICATION
Cornelia de Lange syndrome (CdLS)
DOWNLOAD
MIX
P142-A2
VERSION
Vs. 14
DATE
20-11-2015
REGION
NIPBL 5q13.1
APPLICATION
Cornelia de Lange syndrome (CDLS)
DOWNLOAD
MIX
P142-A3
VERSION
Vs. 15
DATE
05-01-2017
REGION
NIPBL 5q13.1
APPLICATION
Cornelia de Lange syndrome (CDLS)
DOWNLOAD
MIX
P142-A4
VERSION
Vs. A4-01
DATE
22-09-2020
REGION
NIPBL 5p13.2
APPLICATION
Cornelia de Lange syndrome (CdLS)
DOWNLOAD
MIX
P143-C1
VERSION
Vs. 08
DATE
29-11-2013
REGION
MFN2 1p36.2, MPZ 1q22
APPLICATION
Charot-Marie-Tooth disease (CMT2A/1B)
DOWNLOAD
MIX
P143-C2
VERSION
Vs. 09
DATE
25-04-2017
REGION
MFN2 1p36.2, MPZ 1q22
APPLICATION
Charot-Marie-Tooth disease (CMT2A/1B)
DOWNLOAD
MIX
P143-C3
VERSION
Vs. C3-01
DATE
09-12-2020
REGION
MFN2 1p36.22; MPZ 1q23.3
APPLICATION
Charcot-Marie-Tooth neuropathy type 2A (CMT2A); Charcot-Marie-Tooth neuropathy type 1B (CMT1B)
DOWNLOAD
MIX
P144-A2
VERSION
Vs. 05
DATE
17-12-2011
REGION
Chr. 5, 7, 8, 11, 12, 17, 20, 21
APPLICATION
Myelodysplastic syndrome (MDS)
DOWNLOAD
MIX
P145-A2
VERSION
Vs. 05
DATE
17-12-2011
REGION
Chr. 5, 7, 8, 11, 12, 17, 20, 21
APPLICATION
Myelodysplastic syndrome (MDS)
DOWNLOAD
MIX
P147-B2
VERSION
Vs. 13
DATE
01-03-2013
REGION
1p36
APPLICATION
1p36 deletion syndrome
DOWNLOAD
MIX
P147-B2
VERSION
Vs. 14
DATE
31-05-2017
REGION
1p36
APPLICATION
1p36 deletion syndrome
DOWNLOAD
MIX
P147-B2
VERSION
Vs. 15
DATE
02-03-2018
REGION
1p36
APPLICATION
1p36 Deletion syndrome
DOWNLOAD
MIX
P147-C1
VERSION
Vs. C1-01
DATE
09-08-2021
REGION
Chr. 1p36
APPLICATION
1p36 Deletion syndrome
DOWNLOAD
MIX
P148-B3
VERSION
Vs. 11
DATE
01-02-2018
REGION
TGFBR1 9q22, TGFBR2 3p22
APPLICATION
Aortic aneurysm syndrome
DOWNLOAD
MIX
P148-B3
VERSION
Vs. B3-01
DATE
05-07-2018
REGION
TGFBR1 9q22, TGFBR2 3p22
APPLICATION
Aortic aneurysm syndrome
DOWNLOAD
MIX
P148-B4
VERSION
Vs. B4-01
DATE
01-07-2021
REGION
TGFBR1 9q22.33; TGFBR2 3p24.1
APPLICATION
Loeys-Dietz syndrome (LDS); Thoracic aortic disease, heritable (HTAD); Marfan syndrome
DOWNLOAD
MIX
P151-B1
VERSION
Vs. 13
DATE
09-06-2016
REGION
ABCA4 (ABCR) 1p22.1
APPLICATION
Stargardt, Macular dystrophy, Retinitis pigmentosa, age-related macular degeneration
DOWNLOAD
MIX
P151-C1
VERSION
Vs. C1-01
DATE
13-04-2018
REGION
ABCA4 (ABCR) 1p22.1
APPLICATION
Stargardt, Macular dystrophy, Retinitis pigmentosa, age-related macular degeneration
DOWNLOAD
MIX
P152-B2
VERSION
Vs. 13
DATE
09-06-2016
REGION
ABCA4 (ABCR) 1p22.1
APPLICATION
Stargardt, Macular dystrophy, Retinitis pigmentosa, age-related macular degeneration
DOWNLOAD
MIX
P152-C1
VERSION
Vs. C1-01
DATE
13-04-2018
REGION
ABCA4 (ABCR) 1p22.1
APPLICATION
Stargardt, Macular dystrophy, Retinitis pigmentosa, age-related macular degeneration
DOWNLOAD
MIX
P152-C2
VERSION
Vs. C2-01
DATE
04-11-2021
REGION
ABCA4 1p22.1
APPLICATION
Stargardt disease 1; Retinal dystrophy, early-onset severe; Retinitis pigmentosa 19; Macular degeneration, age-related; Cone-rod dystrophy 3; Fundus flavimaculatus
DOWNLOAD
MIX
P153-B1
VERSION
Vs. 13
DATE
22-01-2016
REGION
EYA1 8q13.3.
APPLICATION
Branchio-oto-renal dysplasia syndrome (BOR)
DOWNLOAD
MIX
P153-B2
VERSION
Vs. B2
DATE
18-09-2019
REGION
EYA1 8q13.3
APPLICATION
Branchiootorenal syndrome (BOR)
DOWNLOAD
MIX
P154-C1
VERSION
Vs. 10
DATE
08-12-2014
REGION
GPC3, GPC4, Xq26
APPLICATION
Simpson-Golabi-Behmel syndrome (SGBS)
DOWNLOAD
MIX
P154-C2
VERSION
Vs. 12
DATE
13-07-2017
REGION
GPC3, GPC4, Xq26
APPLICATION
Simpson-Golabi-Behmel syndrome (SGBS)
DOWNLOAD
MIX
P154-C2
VERSION
Vs. C2-01
DATE
16-02-2021
REGION
GPC3 Xq26.2; GPC4 Xq26.2
APPLICATION
Simpson-Golabi-Behmel syndrome type 1 (SGBS1)
DOWNLOAD
MIX
P155-D2
VERSION
Vs. D2-01
DATE
21-01-2019
REGION
COL3A1 2q31, TNXB 6p21.3.
APPLICATION
The Ehlers-Danlos syndrome type III (EDS III)
DOWNLOAD
MIX
P155-E1
VERSION
Vs. E1-01
DATE
03-10-2019
REGION
COL3A1 2q32.2; TNXB 6p21.32
APPLICATION
Ehlers-Danlos syndrome type III (EDSIII); type IV (EDSIV)
DOWNLOAD
MIX
P155-E1
VERSION
Vs. E1-02
DATE
28-10-2020
REGION
COL3A1 2q32.2; TNXB 6p21.32
APPLICATION
Ehlers-Danlos syndrome type III (EDSIII); type IV (EDSIV)
DOWNLOAD
MIX
P155-E1
VERSION
Vs. E1-03
DATE
12-10-2021
REGION
COL3A1 2q32.2; TNXB 6p21.32
APPLICATION
Ehlers-Danlos syndrome type III (EDSIII); type IV (EDSIV)
DOWNLOAD
MIX
P155-E1
VERSION
Vs. E1-04
DATE
01-03-2023
REGION
COL3A1 2q32.2; TNXB 6p21.32
APPLICATION
Vascular Ehlers-Danlos Syndrome (vEDS); and classic-like EDS (clEDS)
DOWNLOAD
MIX
P156-B2
VERSION
Vs. 11
DATE
14-03-2018
REGION
GALT 9p13
APPLICATION
Classic galactosemia
DOWNLOAD
MIX
P156-B3
VERSION
Vs. B3-01
DATE
23-08-2019
REGION
GALT 9p13
APPLICATION
Classic galactosemia
DOWNLOAD
MIX
P157
VERSION
Vs. 05
DATE
09-06-2008
REGION
BCL2L1, SRC, MYBL2, PTPN1, ZNF217, BCAS1, GNAS
APPLICATION
20q
DOWNLOAD
MIX
P157-B1
VERSION
Vs. 09
DATE
01-03-2013
REGION
BCL2L1, SRC, MYBL2, PTPN1, ZNF217, BCAS1, GNAS
APPLICATION
20q
DOWNLOAD
MIX
P158-C2
VERSION
Vs. 20
DATE
11-08-2017
REGION
BMPR1A 10q22, SMAD4 18q21, PTEN
APPLICATION
Juvenile polyposis syndrome (JPS)
DOWNLOAD
MIX
P158-D1
VERSION
Vs. D1-01
DATE
01-11-2018
REGION
BMPR1A 10q23, SMAD4 18q21, PTEN 10q23
APPLICATION
Juvenile polyposis syndrome (JPS)
DOWNLOAD
MIX
P158-D1
VERSION
Vs. D1-03
DATE
07-07-2021
REGION
BMPR1A 10q23.2; SMAD4 18q21.2; PTEN 10q23.31
APPLICATION
Juvenile polyposis syndrome (JPS)
DOWNLOAD
MIX
P158-D1
VERSION
Vs. D1-04
DATE
22-11-2023
REGION
BMPR1A 10q23.2; SMAD4 18q21.2; PTEN 10q23.31
APPLICATION
Juvenile polyposis syndrome (JPS)
DOWNLOAD
MIX
P159-A5
VERSION
Vs. 13
DATE
03-03-2017
REGION
GLA Xq22
APPLICATION
Fabry Disease
DOWNLOAD
MIX
P159-A5
VERSION
Vs. A5-01
DATE
19-04-2017
REGION
GLA Xq22
APPLICATION
Fabry Disease
DOWNLOAD
MIX
P159-A5
VERSION
Vs. A5-03
DATE
22-09-2020
REGION
GLA Xq22.1
APPLICATION
Fabry disease
DOWNLOAD
MIX
P159-A5
VERSION
Vs. A5-04
DATE
12-10-2021
REGION
GLA Xq22.1
APPLICATION
Fabry disease
DOWNLOAD
MIX
P159-A5
VERSION
Vs. A5-05
DATE
24-11-2022
REGION
GLA Xq22.1
APPLICATION
Fabry disease
DOWNLOAD