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
P080-C1
VERSION
Vs. 18
DATE
09-08-2017
REGION
FGFRs, TWIST, MSX2, ALX4, RUNX2
APPLICATION
Craniofacial disorders
MIX
P080-C2
VERSION
Vs. C2-02
DATE
25-03-2019
REGION
FGFR1 8p12; FGFR2 10q26.13; FGFR3 4p16.3; TWIST1 7p21.1; MSX2 5q35.2; ALX4 11p11.2; ALX3 1p13.3; ALX1 12q21.31; RUNX2 6p12.3; EFNB1 Xq13.1
APPLICATION
Craniofacial disorders; FGFR-related craniosynostosis syndromes; Saethre-Chotzen syndrome; Potocki-Shaffer syndrome; Frontonasal dysplasia; Cleidocranial dysplasia; Craniofrontonasal syndrome
MIX
P080-C2
VERSION
Vs. C2-03
DATE
02-09-2021
REGION
FGFR1 8p12; FGFR2 10q26.13; FGFR3 4p16.3; TWIST1 7p21.1; MSX2 5q35.2; ALX4 11p11.2; ALX3 1p13.3; ALX1 12q21.31; RUNX2 6p12.3; EFNB1 Xq13.1
APPLICATION
Craniofacial disorders; FGFR-related craniosynostosis syndromes; Saethre-Chotzen syndrome; Potocki-Shaffer syndrome; Frontonasal dysplasia; Cleidocranial dysplasia; Craniofrontonasal syndrom
MIX
P081-D1
VERSION
Vs. D1-03
DATE
10-04-2019
REGION
NF1 17q11.2
APPLICATION
Neurofibromatosis
MIX
P081-D1
VERSION
Vs. D1-04
DATE
22-04-2020
REGION
NF1 17q11.2
APPLICATION
Neurofibromatosis type 1 (NF1)
MIX
P081-D1
VERSION
Vs. D1-05
DATE
15-07-2021
REGION
NF1 17q11.2
APPLICATION
Neurofibromatosis type 1 (NF1)
MIX
P081-D1
VERSION
Vs. D1-06
DATE
31-01-2022
REGION
NF1 17q11.2
APPLICATION
Neurofibromatosis type 1 (NF1)
MIX
P081-D1
VERSION
Vs. D1-07
DATE
29-01-2024
REGION
NF1 17q11.2
APPLICATION
Neurofibromatosis type 1 (NF1)
MIX
P082-C2
VERSION
Vs. C2-03
DATE
10-04-2019
REGION
NF1 17q11.2
APPLICATION
Neurofibromatosis
MIX
P082-C2
VERSION
Vs. C2-04
DATE
22-04-2020
REGION
NF1 17q11.2
APPLICATION
Neurofibromatosis type 1 (NF1)
MIX
P082-C2
VERSION
Vs. C2-05
DATE
15-07-2021
REGION
NF1 17q11.2
APPLICATION
Neurofibromatosis type 1 (NF1)
MIX
P082-C2
VERSION
Vs. C2-06
DATE
31-01-2022
REGION
NF1 17q11.2
APPLICATION
Neurofibromatosis type 1 (NF1)
MIX
P082-C2
VERSION
Vs. C2-07
DATE
29-01-2024
REGION
NF1 17q11.2
APPLICATION
Neurofibromatosis type 1 (NF1)
MIX
P083-C2
VERSION
Vs. 14
DATE
21-04-2015
REGION
CDH1 16q22.1
APPLICATION
CDH1 or E-cadherin
MIX
P083-D1
VERSION
Vs. D1-01
DATE
13-09-2017
REGION
CDH1 16q22.1
APPLICATION
CDH1 or E-cadherin
MIX
P083-D2
VERSION
Vs. D2-01
DATE
27-10-2020
REGION
CDH1 16q22.1
APPLICATION
Diffuse gastric cancer, hereditary
MIX
P083-D2
VERSION
Vs. D2-02
DATE
15-02-2022
REGION
CDH1 16q22.1
APPLICATION
Diffuse gastric cancer, hereditary
MIX
P083-D2
VERSION
Vs. D2-04
DATE
21-03-2024
REGION
CDH1 16q22.1
APPLICATION
Diffuse gastric cancer, hereditary
MIX
P087-C1
VERSION
Vs. 24
DATE
15-01-2016
REGION
BRCA1
APPLICATION
Breast cancer, hereditary
MIX
P087-D1
VERSION
Vs. D1-01
DATE
04-06-2018
REGION
BRCA1 17q21.31
APPLICATION
Breast and ovarian cancer, hereditary (HBOC)
MIX
P087-D1
VERSION
Vs. D1-06
DATE
01-12-2022
REGION
BRCA1 17q21.31
APPLICATION
Breast and ovarian cancer syndrome, hereditary (HBOC)
MIX
P088-D1
VERSION
Vs. D1-01
DATE
23-04-2020
REGION
1p, 19q, IDH1 (2q33.3), IDH2 (15q26.1) and CDKN2A/2B 9p21.3
APPLICATION
Oligodendroglioma
MIX
P089-B1
VERSION
Vs. 06
DATE
04-12-2015
REGION
TK2, MPV17, DGUOK, RRM2B, SUCLA2, SUCLG1
APPLICATION
mtDNA depletion syndrome
MIX
P089-B2
VERSION
Vs. B2-01
DATE
11-04-2019
REGION
TK2 16q21; MPV17 2p23.3; DGUOK 2p13.1; RRM2B 8q22.3; SUCLA2 13q14.2; SUCLG1 2p11.2
APPLICATION
Mitochondrial DNA depletion syndromes
MIX
P090-C1
VERSION
Vs. C1-01
DATE
29-03-2019
REGION
BRCA2 13q12.3
APPLICATION
Breast cancer, hereditary
MIX
P090-C1
VERSION
Vs. C1-02
DATE
27-03-2020
REGION
BRCA2 13q13.1
APPLICATION
Breast and ovarian cancer, hereditary (HBOC)
MIX
P090-C1
VERSION
Vs. C1-03
DATE
05-07-2021
REGION
BRCA2 13q13.1
APPLICATION
Breast and ovarian cancer syndrome, hereditary (HBOC); Fanconi anemia type D1
MIX
P090-C1
VERSION
Vs. C1-04
DATE
01-12-2022
REGION
BRCA2 13q13.1
APPLICATION
Breast and ovarian cancer syndrome, hereditary (HBOC); Fanconi anemia type D1
MIX
P091-D2
VERSION
Vs. D2-02
DATE
10-07-2019
REGION
CFTR 7q31.2
APPLICATION
Cystic Fibrosis
MIX
P091-D2
VERSION
Vs. D2-03
DATE
11-05-2020
REGION
CFTR 7q31.2
APPLICATION
Cystic fibrosis; Congenital absence of the vas deferens (CAVD)
MIX
P091-D2
VERSION
Vs. D2-04
DATE
11-06-2021
REGION
CFTR 7q31.2
APPLICATION
Cystic fibrosis; Congenital absence of the vas deferens (CAVD)
MIX
P091-D2
VERSION
Vs. D2-05
DATE
17-11-2022
REGION
CFTR 7q31.2
APPLICATION
Cystic fibrosis; Congenital absence of the vas deferens (CAVD)
MIX
P092-B3
VERSION
Vs. 11
DATE
12-08-2015
REGION
ABCC6 16p13.1
APPLICATION
Pseudoxanthoma elasticum
MIX
P092-B3
VERSION
Vs. 13
DATE
10-01-2017
REGION
ABCC6 16p13.1
APPLICATION
Pseudoxanthoma elasticum
MIX
P092-C1
VERSION
Vs. C1-01
DATE
19-05-2020
REGION
ABCC6 16p13.11
APPLICATION
Pseudoxanthoma elasticum
MIX
P093-C2
VERSION
Vs. 21
DATE
15-01-2015
REGION
ENG 9q34.1, ALK1 12q13.13, BMPR2 2q33.3
APPLICATION
Hemorrhagic telangiectasia, hereditary (HHT), Primary pulmonary hypertension (PPH1)
MIX
P093-C2
VERSION
Vs. C2-01
DATE
19-12-2017
REGION
ENG 9q34.1, ALK1 12q13.13, BMPR2 2q33.3
APPLICATION
Hemorrhagic telangiectasia, hereditary (HHT), Primary pulmonary hypertension (PPH1)
MIX
P093-C2
VERSION
Vs. C2-04
DATE
23-12-2021
REGION
ENG 9q34.11; ACVRL1 12q13.3; BMPR2 2q33.1-q33.2
APPLICATION
Hemorrhagic telangiectasia, hereditary (HHT); Heritable pulmonary arterial hypertension (HPAH)
MIX
P094-B2
VERSION
Vs. 14
DATE
13-05-2015
REGION
MEFV 16p13.3
APPLICATION
Mediterranean fever, familial (MEFV)
MIX
P094-B3
VERSION
Vs. B3-01
DATE
30-08-2018
REGION
MEFV 16p13.3
APPLICATION
Mediterranean fever, familial (MEFV)
MIX
P094-B3
VERSION
Vs. B3-02
DATE
28-07-2022
REGION
MEFV 16p13.3
APPLICATION
Mediterranean fever, familial (MEFV)
MIX
P095-A3
VERSION
Vs. 21
DATE
27-11-2014
REGION
Chr. 13, 18, 21, X, Y
APPLICATION
Down syndrome, Edwards syndrome, Patau syndrome
MIX
P095-A4
VERSION
Vs. A4-01
DATE
21-09-2016
REGION
Chr. 13, 18, 21, X, Y
APPLICATION
Down syndrome, Edwards syndrome, Patau syndrome
MIX
P095-A4
VERSION
Vs. A4-03
DATE
17-06-2020
REGION
Chr. 13, 18, 21, X, Y
APPLICATION
Down syndrome; Edwards syndrome; Patau syndrome; Turner syndrome; Triple X syndrome; Klinefelter syndrome; XYY syndrome
MIX
P095-A4
VERSION
Vs. A4-05
DATE
05-04-2022
REGION
Chr. 13, 18, 21, X, Y
APPLICATION
Down syndrome; Edwards syndrome; Patau syndrome; Turner syndrome; Triple X syndrome; Klinefelter syndrome; 47,XYY syndrome
MIX
P096-A2
VERSION
Vs. 14
DATE
02-12-2012
REGION
various
APPLICATION
Mental retardation, Wolf-Hirschlorn, Cri du Chat, Langer-Giedon, WAGR, Rubinstein-Taybi, Down, Kabuki
MIX
P096-B1
VERSION
Vs. 17
DATE
16-10-2015
REGION
various
APPLICATION
Mental retardation, Wolf-Hirschlorn, Cri du Chat, Langer-Giedon, WAGR, Rubinstein-Taybi, Down, Kabuki
MIX
P098-D1
VERSION
Vs. D1-01
DATE
03-10-2018
REGION
ATP7B 13q14.3
APPLICATION
Wilson disease
MIX
P098-D1
VERSION
Vs. D1-02
DATE
16-10-2019
REGION
ATP7B 13q14.3
APPLICATION
Wilson disease
MIX
P098-E1
VERSION
Vs. E1-01
DATE
04-04-2022
REGION
ATP7B 13q14.3
APPLICATION
Wilson disease
MIX
P099-C3
VERSION
Vs. C3-01
DATE
05-07-2018
REGION
TH 11p15.5, GCH114q22, SGCE 7q21
APPLICATION
Dopa-responsive dystonia, Segawa disease; Myoclonus-dystonia syndrome
MIX
P099-C3
VERSION
Vs. C3-02
DATE
30-01-2019
REGION
TH 11p15.5, GCH114q22, SGCE 7q21
APPLICATION
Dopa-responsive dystonia, Segawa disease; Myoclonus-dystonia syndrome
MIX
P099-D1
VERSION
Vs. D1-01
DATE
21-07-2020
REGION
TH 11p15.5; GCH 14q22.2; SGCE 7q21.3; PRRT2 16p11.2
APPLICATION
Dopa-responsive dystonia, autosomal dominant; Dopa-responsive dystonia, autosomal recessive; Myoclonus-dystonia