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
P440-A1
VERSION
Vs. 01
DATE
03-02-2014
REGION
F10-F11
APPLICATION
Factor X deficiency and Factor XI deficiency (Rosenthal syndrome)
MIX
P441-A1
VERSION
Vs. 01
DATE
19-07-2013
REGION
3q12.12
APPLICATION
ARSACS (autosomal recessive spastic ataxia of Charlevoix-Saguenay)
MIX
P443-A1
VERSION
Vs. 01
DATE
14-03-2014
REGION
17q21.31
APPLICATION
KANSL1 copy number
MIX
P444-A1
VERSION
Vs. 01
DATE
17-08-2015
REGION
2q36.3
APPLICATION
Alport Syndrome
MIX
P444-A2
VERSION
Vs. A2-01
DATE
22-02-2018
REGION
2q36.3
APPLICATION
Alport Syndrome
MIX
P445-A1
VERSION
Vs. 02
DATE
31-08-2015
REGION
Xp11.3
APPLICATION
Kabuki Syndrome Type 2 (KS2)
MIX
P445-A2
VERSION
Vs. 03
DATE
10-05-2017
REGION
Xp11.3
APPLICATION
Kabuki Syndrome Type 2 (KS2)
MIX
P446-A1
VERSION
Vs. 01
DATE
17-07-2014
REGION
14q31.3
APPLICATION
Krabbe Disease
MIX
P447-A1
VERSION
Vs. 01
DATE
02-04-2014
REGION
Xq26.1
APPLICATION
Lesch-Nyhan syndrome
MIX
P452-A1
VERSION
Vs. 01
DATE
23-06-2014
REGION
PLS3
APPLICATION
X-linked osteoporosis and fractures, osteogenesis imperfecta type I
MIX
P453-A1
VERSION
Vs. 02
DATE
07-01-2016
REGION
17q25.3
APPLICATION
Pompe Disease
MIX
P453-A2
VERSION
Vs. 04
DATE
18-07-2017
REGION
17q25.3
APPLICATION
Pompe Disease
MIX
P454-A1
VERSION
Vs. 01
DATE
29-07-2016
REGION
Xp21.1; 1q25.3; 16q24.3; 22q13.1
APPLICATION
Chronic Granulomatous Disease
MIX
P455-A1
VERSION
Vs. 01
DATE
05-02-2015
REGION
22q11.21
APPLICATION
Schwannomatosis
MIX
P456-A1
VERSION
Vs 01
DATE
06-07-2015
REGION
EVC/EVC2
APPLICATION
Ellis-van Creveld syndrome
MIX
P457-A1
VERSION
Vs. 01
DATE
19-11-2014
REGION
11q13
APPLICATION
Smith–Lemli–Opitz syndrome
MIX
P457-A2
VERSION
Vs. A2-01
DATE
23-10-2018
REGION
11q13
APPLICATION
Smith–Lemli–Opitz syndrome
MIX
P458-B1
VERSION
Vs. 05
DATE
16-01-2015
REGION
various
APPLICATION
Gastric Cancer
MIX
P459-A1
VERSION
Vs. 01
DATE
06-10-2015
REGION
14q32.13
APPLICATION
Alpha-1-antitrypsin (AAT)-deficiency
MIX
P460-A1
VERSION
Vs. 03
DATE
16-07-2015
REGION
5q13.2
APPLICATION
Spinal muscular Athrophy
MIX
P460-A1
VERSION
Vs. 04
DATE
23-10-2015
REGION
5q13.2
APPLICATION
Spinal muscular Athrophy
MIX
P461-A1
VERSION
Vs. 01
DATE
13-09-2016
REGION
15q15.3; 16p12.2
APPLICATION
Deafness Infertility Syndrome (DIS); non-syndromic hearing loss
MIX
P461-A1
VERSION
Vs. 02
DATE
15-06-2017
REGION
15q15.3; 16p12.2
APPLICATION
Deafness Infertility Syndrome (DIS); non-syndromic hearing loss
MIX
P463-A1
VERSION
Vs. 01
DATE
08-08-2016
REGION
16p11.2; 17q12; 22q11.21
APPLICATION
Mayer-Rokitansky-Küster-Hauser Syndrome
MIX
P465-A1
VERSION
Vs. 01
DATE
07-10-2015
REGION
01p31.1
APPLICATION
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
MIX
P466-A1
VERSION
Vs. 01
DATE
28-04-2015
REGION
CDC73
APPLICATION
HPT jaw tumour syndrome, famial hyperparathyroidism, parathyroid carcinoma
MIX
P469-A1
VERSION
Vs. 01
DATE
13-01-2017
REGION
F5 1q24.2
APPLICATION
Factor V deficiency
MIX
P470-A1
VERSION
Vs. 01
DATE
06-04-2016
REGION
01p34.2, 08p23.3, 11p15.4, 15q23, 16p11.2
APPLICATION
Neuronal Ceroid Lipofuscinoses/Batten Disease
MIX
P470-A1
VERSION
Vs. 02
DATE
14-03-2018
REGION
01p34.2, 08p23.3, 11p15.4, 15q23, 16p11.2
APPLICATION
Neuronal Ceroid Lipofuscinoses/Batten Disease
MIX
P471-A1
VERSION
Vs. 01
DATE
04-03-2016
REGION
01q42.13; 14q24.2; 21q21.3
APPLICATION
Early-Onset Familial Alzheimer's Disease (EOFAD)
MIX
P471-A1
VERSION
Vs. 02
DATE
15-02-2017
REGION
01q42.13; 14q24.2; 21q21.3
APPLICATION
Early-Onset Familial Alzheimer's Disease (EOFAD)
MIX
P472-A1
VERSION
Vs. 01
DATE
17-03-2017
REGION
10q24.32
APPLICATION
Familial Medulloblastoma and Meningioma
MIX
P473-A1
VERSION
Vs. 01
DATE
08-12-2016
REGION
17p13.2
APPLICATION
(Nephropathic) Cystinosis
MIX
P475-A1
VERSION
Vs. 01
DATE
20-09-2017
REGION
FOXP1 3p14.1; FOXP2 7q31.1
APPLICATION
mental retardation
MIX
P479-A1
VERSION
Vs. A1-01
DATE
01-03-2018
REGION
TCF12 15q21.3; ERF 19q13.2
APPLICATION
Craniofacial disorders