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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
P340-A2
VERSION
Vs. 05
DATE
26-12-2012
REGION
EHMT1
APPLICATION
9q subtelomeric deletion syndrome (9qSTDS) or Kleefstra syndrome.
DOWNLOAD
MIX
P340-B1
VERSION
Vs. B1-01
DATE
23-03-2018
REGION
EHMT1
APPLICATION
9q subtelomeric deletion syndrome (9qSTDS) or Kleefstra syndrome.
DOWNLOAD
MIX
P341-B2
VERSION
Vs. 07
DATE
11-08-2015
REGION
PKHD1
APPLICATION
Polycystic kidney disease, autosomal recessive (ARPKD)
DOWNLOAD
MIX
P341-B3
VERSION
Vs. 08
DATE
28-06-2016
REGION
PKHD1
APPLICATION
Polycystic kidney disease, autosomal recessive (ARPKD)
DOWNLOAD
MIX
P341-B4
VERSION
Vs. B4-01
DATE
12-06-2020
REGION
PKHD1 6p12.2
APPLICATION
Polycystic kidney disease, autosomal recessive (ARPKD)
DOWNLOAD
MIX
P342-B2
VERSION
Vs. 07
DATE
11-08-2015
REGION
PKHD1
APPLICATION
Polycystic kidney disease, autosomal recessive (ARPKD)
DOWNLOAD
MIX
P342-B3
VERSION
Vs. 08
DATE
28-06-2016
REGION
PKHD1
APPLICATION
Polycystic kidney disease, autosomal recessive (ARPKD)
DOWNLOAD
MIX
P342-C1
VERSION
Vs. C1-01
DATE
12-06-2020
REGION
PKHD1 6p12.2
APPLICATION
Polycystic kidney disease, autosomal recessive (ARPKD)
DOWNLOAD
MIX
P343-C2
VERSION
Vs. 08
DATE
11-08-2015
REGION
15q11-13: UBE3A, GABRB3; 16p11; SHANK3 22q13
APPLICATION
Autism-1
DOWNLOAD
MIX
P343-C3
VERSION
Vs. 09
DATE
04-11-2016
REGION
15q11-13: UBE3A, GABRB3; 16p11; SHANK3 22q13
APPLICATION
Autism-1
DOWNLOAD
MIX
P347-A2
VERSION
Vs. 08
DATE
01-04-2016
REGION
HFE, SLC40A1, TFR2, HFE2, HAMP
APPLICATION
Hereditary hemochromatosis (HH)
DOWNLOAD
MIX
P347-A3
VERSION
Vs. A3-01
DATE
09-12-2019
REGION
HFE, SLC40A1, TFR2, HFE2, HAMP
APPLICATION
Hereditary hemochromatosis (HH)
DOWNLOAD
MIX
P347-A3
VERSION
Vs. A3-02
DATE
30-08-2022
REGION
HFE 6p22.1; SLC40A1 2q32.2; TFR2 7q22.1; HFE2 1q21.1; HAMP 19q13.12
APPLICATION
Hemochromatosis, hereditary (HH)
DOWNLOAD
MIX
P348-B1
VERSION
Vs. 08
DATE
07-03-2017
REGION
1q23
APPLICATION
Migraine
DOWNLOAD
MIX
P348-C1
VERSION
Vs. C1-01
DATE
04-05-2020
REGION
ATP1A2 1q23.2; CACNA1A 19p13.13; PRRT2 16p11.2
APPLICATION
Hemiplegic migraine type 1, familial (FHM1); Hemiplegic migraine type 2, familial (FHM2); Paroxysmal Kinesigenic Dyskinesia
DOWNLOAD
MIX
P350-B2
VERSION
Vs. 05
DATE
04-03-2016
REGION
CLCN1, KCNJ2
APPLICATION
Myotonia congenita, Thomsen's disease, Becker's disease, Andersen-Tawil syndrome
DOWNLOAD
MIX
P350-C1
VERSION
Vs. C1-01
DATE
18-07-2019
REGION
CLCN1, KCNJ2
APPLICATION
Myotonia congenita, Thomsen's disease, Becker's disease, Andersen-Tawil syndrome
DOWNLOAD
MIX
P350-C1
VERSION
Vs. C1-02
DATE
04-10-2022
REGION
CLCN1 7q34; KCNJ2 17q24.3
APPLICATION
Myotonia congenita; Thomsen disease; Becker disease; Andersen-Tawil syndrome
DOWNLOAD
MIX
P351-C1
VERSION
Vs. C1-01
DATE
08-03-2018
REGION
PKD1
APPLICATION
Adult polycystic kidney disease
DOWNLOAD
MIX
P351-C1
VERSION
Vs. C1-02
DATE
26-04-2019
REGION
PKD1
APPLICATION
Adult polycystic kidney disease
DOWNLOAD
MIX
P351-C1
VERSION
Vs. C1-03
DATE
03-03-2020
REGION
PKD1 16p13.3
APPLICATION
Polycystic kidney disease, autosomal dominant (ADPKD)
DOWNLOAD
MIX
P351-D1
VERSION
Vs. D1-01
DATE
24-08-2021
REGION
PKD1 16p13.3; TSC2 16p13.3
APPLICATION
Polycystic kidney disease, autosomal dominant (ADPKD); TSC2/PKD1 contiguous gene deletion syndrome
DOWNLOAD
MIX
P351-D1
VERSION
Vs. D1-02
DATE
10-03-2023
REGION
PKD1 16p13.3; TSC2 16p13.3
APPLICATION
Polycystic kidney disease, autosomal dominant (ADPKD); TSC2/PKD1 contiguous gene deletion syndrome
DOWNLOAD
MIX
P352-D1
VERSION
Vs. D1-01
DATE
08-03-2018
REGION
PKD2, PKD1
APPLICATION
Adult polycystic kidney disease
DOWNLOAD
MIX
P352-D1
VERSION
Vs. D1-02
DATE
26-04-2019
REGION
PKD2, PKD1
APPLICATION
Adult polycystic kidney disease
DOWNLOAD
MIX
P352-D1
VERSION
Vs. D1-03
DATE
03-03-2020
REGION
PKD1 16p13.3; PKD2 4q22.1
APPLICATION
Polycystic kidney disease, autosomal dominant (ADPKD)
DOWNLOAD
MIX
P352-E1
VERSION
Vs.E1-01
DATE
24-08-2021
REGION
PKD1 16p13.3; PKD2 4q22.1
APPLICATION
Polycystic kidney disease, autosomal dominant (ADPKD)
DOWNLOAD
MIX
P352-E1
VERSION
Vs.E1-02
DATE
10-03-2023
REGION
PKD1 16p13.3; PKD2 4q22.1
APPLICATION
Polycystic kidney disease, autosomal dominant (ADPKD)
DOWNLOAD
MIX
P353-A1
VERSION
Vs. 04
DATE
05-11-2015
REGION
SH3TC2, NEFL, GDAP1, EGR2, SBF2, MTMR2, PRX
APPLICATION
Charcot-Marie-Tooth neuropathy type 4 (CMT4)
DOWNLOAD
MIX
P353-A2
VERSION
Vs. A2-01
DATE
09-02-2018
REGION
SH3TC2 5q33.1; NEFL 8p21.2; GDAP1 8q21.11; EGR2 10q21.2; SBF2 11p15.4; MTMR2 11q21; PRX 19q13.2
APPLICATION
Marie-Tooth neuropathy type 4 (CMT4); Marie-Tooth neuropathy type 1F (CMT1F); Marie-Tooth neuropathy type 2E (CMT2E)
DOWNLOAD
MIX
P353-B1
VERSION
Vs. B1-01
DATE
23-04-2021
REGION
SH3TC2 5q33.1; NEFL 8p21.2; GDAP1 8q21.11; EGR2 10q21.2; SBF2 11p15.4; MTMR2 11q21; PRX 19q13.2
APPLICATION
Marie-Tooth neuropathy type 4 (CMT4); Marie-Tooth neuropathy type 1F (CMT1F); Marie-Tooth neuropathy type 2E (CMT2E)
DOWNLOAD
MIX
P354-A1
VERSION
Vs. 03
DATE
09-12-2012
REGION
KIT, SNAI2
APPLICATION
Piebaldism/KIT
DOWNLOAD
MIX
P354-A2
VERSION
Vs. 04
DATE
15-04-2015
REGION
KIT, SNAI2
APPLICATION
Piebaldism/KIT
DOWNLOAD
MIX
P355-A2
VERSION
Vs. 05
DATE
08-09-2015
REGION
MCPH1, ASPM, CDK5RAP2, CENPJ, STIL
APPLICATION
Primary Microcephaly
DOWNLOAD
MIX
P355-A2
VERSION
Vs. A2-01
DATE
25-07-2018
REGION
MCPH1, ASPM, CDK5RAP2, CENPJ, STIL
APPLICATION
Primary Microcephaly
DOWNLOAD
MIX
P355-B1
VERSION
Vs. B1-01
DATE
24-05-2022
REGION
MCPH1 8p23.1; ASPM 1q31.3; CDK5RAP2 9q33.2; CENPJ 13q12.12; STIL 1p33
APPLICATION
Microcephaly
DOWNLOAD
MIX
P356-A1
VERSION
Vs. 06
DATE
01-03-2013
REGION
22q11, 22q13
APPLICATION
Subtelomeric screening
DOWNLOAD
MIX
P356-A2
VERSION
Vs. 07
DATE
03-06-2015
REGION
22q11, 22q13
APPLICATION
Subtelomeric screening
DOWNLOAD
MIX
P357-A2
VERSION
Vs. 06
DATE
13-04-2017
REGION
MODY 4; 6-10
APPLICATION
Maturity-Onset Diabetes of the Young (MODY)
DOWNLOAD
MIX
P357-A3
VERSION
Vs. 07
DATE
13-02-2018
REGION
MODY 4; 6-10
APPLICATION
Maturity-Onset Diabetes of the Young (MODY)
DOWNLOAD
MIX
P357-A3
VERSION
Vs. A3-01
DATE
28-07-2021
REGION
PDX1 13q12.2; HNF1B 17q12; NEUROD1 2q31,3; KLF11 2p25.1; CEL 9q34.2; PAX4 7q32,1; INS 11p15.5
APPLICATION
Maturity-onset diabetes of the young (MODY) type 4-10
DOWNLOAD
MIX
P358-A1
VERSION
Vs. 05
DATE
10-12-2015
REGION
4p, 5p telomeres and 13q,14q centromere regions
APPLICATION
Subtelomeric screening
DOWNLOAD
MIX
P358-A1
VERSION
Vs. 06
DATE
12-01-2017
REGION
4p, 5p telomeres and 13q,14q centromere regions
APPLICATION
Subtelomeric screening
DOWNLOAD
MIX
P359-A2
VERSION
Vs. 04
DATE
12-07-2013
REGION
1p36.22
APPLICATION
Ehlers Danlos syndrome type VI
DOWNLOAD
MIX
P359-A3
VERSION
Vs. 05
DATE
10-02-2016
REGION
1p36.22
APPLICATION
Ehlers Danlos syndrome type VI
DOWNLOAD
MIX
P359-A3
VERSION
Vs. A3-06
DATE
12-11-2019
REGION
PLOD1 1p36.22
APPLICATION
PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome (kEDS; EDS VI)
DOWNLOAD