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
P240-A5
VERSION
Vs. A5-01
DATE
23-04-2021
REGION
BRIP1 17q23.2; CHEK1 11q24.2
APPLICATION
Predisposition to develop cancer, hereditary
MIX
P241-E1
VERSION
Vs. E1-04
DATE
15-02-2018
REGION
HNF4A 20q13, GCK 7p13, HNF1A 12q24, IPF1 13q12, HNF1B 17q12, NEUROD1 2q31
APPLICATION
Maturity-Onset Diabetes of the Young (MODY)
MIX
P241-E1
VERSION
Vs. E1-05
DATE
15-06-2020
REGION
HNF4A 20q13, GCK 7p13, HNF1A 12q24, HNF1B 17q12
APPLICATION
Maturity-Onset Diabetes of the Young (MODY)
MIX
P241-E1
VERSION
Vs. E1-06
DATE
01-07-2021
REGION
HNF1A 12q24.31; HNF1B 17q12; HNF4A 20q13.12; GCK 7p13
APPLICATION
Maturity-onset diabetes of the young (MODY) type 1, 2, 3, 5; Renal cysts and diabetes syndrome (RCAD)
MIX
P241-E1
VERSION
Vs. E1-07
DATE
04-12-2023
REGION
HNF1A 12q24.31; HNF1B 17q12; HNF4A 20q13.12; GCK 7p13
APPLICATION
Maturity-onset diabetes of the young (MODY) type 1, 2, 3, 5; Renal cysts and diabetes syndrome (RCAD)
MIX
P242-B3
VERSION
Vs. B3-01
DATE
23-11-2018
REGION
PRSS1 7q34, SPINK1 5q32
APPLICATION
Hereditary Pancreatitis (HP)
MIX
P242-C1
VERSION
Vs. C1-01
DATE
10-12-2019
REGION
PRSS1 7q34; SPINK1 5q32; CTRC 1p36.21
APPLICATION
Pancreatitis, hereditary (HP)
MIX
P242-C1
VERSION
Vs. C1-02
DATE
23-02-2021
REGION
PRSS1 7q34; SPINK1 5q32; CTRC 1p36.21
APPLICATION
Pancreatitis, hereditary (HP)
MIX
P242-C1
VERSION
Vs. C1-03
DATE
03-08-2023
REGION
PRSS1 7q34; SPINK1 5q32; CTRC 1p36.21
APPLICATION
Pancreatitis, hereditary (HP)
MIX
P242-D1
VERSION
Vs. D1-01
DATE
16-07-2025
REGION
CTRC, SPINK1, PRSS1 and PRSS2 genes
APPLICATION
hereditary pancreatitis
MIX
P243-B1
VERSION
Vs. 10
DATE
07-09-2017
REGION
SERPING1 11q12.1
APPLICATION
Hereditary angioedema (HAE)
MIX
P243-B1
VERSION
Vs. B1-01
DATE
28-09-2018
REGION
SERPING1 11q12.1; F12 5q35.3
APPLICATION
Hereditary angioedema (HAE)
MIX
P243-B1
VERSION
Vs. B1-02
DATE
24-02-2022
REGION
SERPING1 11q12.1; F12 5q35.3
APPLICATION
Hereditary angioedema (HAE)
MIX
P244-C1
VERSION
Vs. 09
DATE
28-04-2016
REGION
AIP 11q13, MEN1 11q13
APPLICATION
Multiple endocrine neoplasia (MEN)
MIX
P244-D1
VERSION
Vs. D1-01
DATE
23-08-2019
REGION
AIP 11q13, MEN1 11q13
APPLICATION
Multiple endocrine neoplasia (MEN)
MIX
P244-D1
VERSION
Vs. D1-02
DATE
03-02-2021
REGION
AIP 11q13.2; MEN1 11q13.1; CDKN1B 12p13.1
APPLICATION
Multiple endocrine neoplasia (MEN) type1, 4; Pituitary adenoma predisposition syndrome
MIX
P244-D1
VERSION
Vs. D1-03
DATE
22-04-2025
REGION
AIP, MEN1 and CDKN1B genes
APPLICATION
familial isolated pituitary adenoma (FIPA), multiple endocrine neoplasia type 1 (MEN1), and multiple endocrine neoplasia type 4 (MEN4)
MIX
P245-B1
VERSION
Vs. 33
DATE
16-09-2014
REGION
various
APPLICATION
Microdeletion syndromes
MIX
P245-B1
VERSION
Vs. B1-05
DATE
31-01-2019
REGION
Various
APPLICATION
Microdeletion syndromes; Microduplication syndromes
MIX
P245-B1
VERSION
Vs. B1-07
DATE
21-08-2020
REGION
Various
APPLICATION
Microdeletion syndromes; Microduplication syndromes
MIX
P245-B1
VERSION
Vs. B1-12
DATE
04-09-2025
REGION
subset of recurrent microdeletions and microduplications
APPLICATION
developmental delay, intellectual disability and/or congenital anomalies
MIX
P247-A2
VERSION
Vs. 08
DATE
20-06-2016
REGION
CXCR4, CX3CR1, CCR5, CCR2, CD4, CD209
APPLICATION
Chemokines
MIX
P248-A2
VERSION
Vs. 12
DATE
01-03-2013
REGION
MLH1 3p21.3, MSH2 2p21
APPLICATION
Colon cancer, hereditary non-polyposis (HNPCC)
MIX
P248-B1
VERSION
Vs. 13
DATE
10-07-2015
REGION
MLH1 3p21.3, MSH2 2p21
APPLICATION
Colon cancer, hereditary non-polyposis (HNPCC)
MIX
P248-B2
VERSION
Vs. B2-02
DATE
29-10-2021
REGION
MLH1 3p22.2; MSH2 2p21
APPLICATION
Lynch syndrome
MIX
P249-B1
VERSION
Vs. 06
DATE
30-10-2011
REGION
17p, 18p, 19p, 20p
APPLICATION
Subtelomeric screening
MIX
P249-B1
VERSION
Vs. 07
DATE
17-12-2012
REGION
17p, 18p, 19p, 20p
APPLICATION
Subtelomeric screening
MIX
P250-B2
VERSION
Vs. B2-06
DATE
22-01-2021
REGION
22q11.2; 22q13; 17p; 10p; 9q; 8p; 4q
APPLICATION
DiGeorge syndrome; 22q11.2 deletion syndrome; 22q11.2 duplication syndrome; DGS type II; Disorders with phenotypic features of DGS; Cat eye syndrome (CES); Velocardiofacial syndrome (VCFS)
MIX
P250-B2
VERSION
Vs. B2-07
DATE
21-06-2023
REGION
22q11.2; 22q13; 17p; 10p; 9q; 8p; 4q
APPLICATION
DiGeorge syndrome; 22q11.2 deletion syndrome; 22q11.2 duplication syndrome; DGS type II; Disorders with phenotypic features of DGS; Cat eye syndrome (CES); Velocardiofacial syndrome (VCFS)
MIX
P250-B2
VERSION
Vs. B2-09
DATE
10-09-2024
REGION
22q11.2, 22q11.1, 22q13.3, 4q, 8p, 9q, 10p and 17p regions
APPLICATION
22q11.2 deletion/duplication syndrome (DS/DupS), cat eye syndrome (CES), DiGeorge syndrome (DGS) type II and disorders with phenotypic features of DGS
MIX
P250-B2
VERSION
Vs. B2-10
DATE
22-09-2025
REGION
22q11.2, 22q11.1, 22q13.3, 4q, 8p, 9q, 10p and 17p regions
APPLICATION
22q11.2 deletion syndrome (22q11.2 DS), 22q11.2 duplication syndrome (22q11.2 DupS), cat eye syndrome (CES), and differential diagnosis of 22q11.2 DS (8p23 deletion syndrome, DiGeorge syndrome/velocardiofacial syndrome complex 2 or HDR)
MIX
P251-C1
VERSION
Vs. 08
DATE
18-7-2011
REGION
1p36, 3p22/3p21.3 and 11q23
APPLICATION
Neuroblastoma
MIX
P251-C2
VERSION
Vs. C2-02
DATE
28-11-2018
REGION
Chr. 1; 3; 11
APPLICATION
Neuroblastoma
MIX
P252-C1
VERSION
Vs. 08
DATE
18-07-2011
REGION
2p24.1/MYCN, 2q33, 17p13/TP53, 17q
APPLICATION
Neuroblastoma
MIX
P253-B1
VERSION
Vs. 06
DATE
26-01-2009
REGION
Chromosomes 4, 7, 9, 12, 14
APPLICATION
Neuroblastoma
MIX
P253-C1
VERSION
Vs. 08
DATE
18-07-2011
REGION
Chromosomes 4, 7, 9, 12, 14
APPLICATION
Neuroblastoma
MIX
P254-B1
VERSION
Vs. 08
DATE
04-12-2015
REGION
PSEN1 14q24.2
APPLICATION
Alzheimer's disease (AD)
MIX
P254-B2
VERSION
Vs. B2-01
DATE
31-08-2018
REGION
PSEN1 14q24.2
APPLICATION
Alzheimer's disease (AD)
MIX
P255-B1
VERSION
Vs. 08
DATE
20-02-2015
REGION
ALDOB 9q21
APPLICATION
Fructose intolerance
MIX
P255-B1
VERSION
Vs. 09
DATE
02-06-2017
REGION
ALDOB 9q21
APPLICATION
Fructose intolerance
MIX
P255-B1
VERSION
Vs. B1-01
DATE
14-01-2021
REGION
ALDOB 9q31.1; FBP1 9q22.32
APPLICATION
Fructose intolerance, hereditary; Fructose-1,6-bisphosphatase deficiency
MIX
P256-B4
VERSION
Vs. B4-01
DATE
23-10-2018
REGION
FLCN 17p11.2; Smith-Magenis syndrome region
APPLICATION
Birt-Hogg-Dube syndrome
MIX
P256-C1
VERSION
Vs. C1-01
DATE
12-12-2019
REGION
FLCN 17p11.2; Smith-Magenis syndrome region
APPLICATION
Birt-Hogg-Dube syndrome
MIX
P256-C1
VERSION
Vs. C1-02
DATE
17-08-2021
REGION
FLCN 17p11.2; Smith-Magenis syndrome region
APPLICATION
Birt-Hogg-Dube syndrome
MIX
P257-A2
VERSION
Vs. 04
DATE
30-10-2011
REGION
DKC1 Xq28
APPLICATION
Dyskeratosis congenita (DC)
MIX
P257-A3
VERSION
Vs. A3-01
DATE
30-04-2018
REGION
DKC1 Xq28; TERT 5p15.33; TERC 3q26.2
APPLICATION
Dyskeratosis congenita (DC)
MIX
P257-A3
VERSION
Vs. A3-02
DATE
01-02-2022
REGION
DKC1 Xq28; TERT 5p15.33; TERC 3q26.2
APPLICATION
Dyskeratosis congenita (DC)
MIX
P258-C1
VERSION
Vs. 07
DATE
29-10-2014
REGION
SMARCB1 22q11.2
APPLICATION
Rhabdoid tumors
MIX
P258-C1
VERSION
Vs. 08
DATE
28-01-2016
REGION
SMARCB1 22q11.2
APPLICATION
Rhabdoid tumors
MIX
P258-C2
VERSION
Vs. C2-01
DATE
30-08-2019
REGION
SMARCB1 22q11.23
APPLICATION
Rhabdoid tumors predisposition syndrome
MIX
P258-C2
VERSION
Vs. C2-02
DATE
19-07-2023
REGION
SMARCB1 22q11.23
APPLICATION
Rhabdoid tumors predisposition syndrome, Coffin-Siris syndrome
MIX
P259-B2
VERSION
Vs. 06
DATE
07-02-2014
REGION
RPS6KA3 Xp22.2-p22.1, PQBP1 Xq11.2
APPLICATION
Coffin-Lowry Syndrome (CLS)
MIX
P259-B3
VERSION
Vs. 07
DATE
28-07-2017
REGION
RPS6KA3 Xp22.2-p22.1, PQBP1 Xq11.2
APPLICATION
Coffin-Lowry Syndrome (CLS)