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
P381-A2
VERSION
Vs. 07
DATE
07-02-2014
REGION
COL11A1
APPLICATION
Marshall, type II Stickler syndromes
MIX
P381-A3
VERSION
Vs. 08
DATE
20-06-2017
REGION
COL11A1
APPLICATION
Marshall, type II Stickler syndromes
MIX
P381-A4
VERSION
Vs. A4-01
DATE
30-04-2021
REGION
COL11A1 1p21.1
APPLICATION
Marshall syndrome; Stickler syndrome type II
MIX
P382-A3
VERSION
Vs. 07
DATE
07-02-2014
REGION
COL11A1
APPLICATION
Marshall, type II Stickler syndromes
MIX
P382-A3
VERSION
Vs. 08
DATE
20-06-2017
REGION
COL11A1
APPLICATION
Marshall, type II Stickler syndromes
MIX
P382-B1
VERSION
Vs. B1-01
DATE
30-04-2021
REGION
COL11A1 1p21.1
APPLICATION
Marshall syndrome; Stickler syndrome type II
MIX
P383-A2
VERSION
Vs. 08
DATE
15-03-2019
REGION
various
APPLICATION
T-lineage acute lymphoblastic leukaemia (T-ALL)
MIX
P384-A1
VERSION
Vs. 01
DATE
24-06-2011
REGION
IHH, HHIP, NPPC, HMGA2, ADAMTSL3
APPLICATION
Human Height
MIX
P384-A1
VERSION
Vs. 04
DATE
01-03-2013
REGION
IHH, HHIP, NPPC, HMGA2, ADAMTSL3
APPLICATION
Human Height
MIX
P385-A3
VERSION
Vs. A3-01
DATE
12-10-2021
REGION
DOCK8 9p24.3
APPLICATION
Hyper IgE syndrome, autosomal recessive (AR-HIES)
MIX
P386-A4
VERSION
Vs. A4-01
DATE
12-10-2021
REGION
DOCK8 9p24.3; STAT3 17q21.2
APPLICATION
Hyper IgE syndrome, autosomal dominant (AD-HIES)
MIX
P387-A2
VERSION
Vs. 04
DATE
19-06-2015
REGION
NPHP1 2q13
APPLICATION
Familial juvenile nephronophthisis
MIX
P387-A3
VERSION
Vs. 05
DATE
23-06-2017
REGION
NPHP1 2q13
APPLICATION
Familial juvenile nephronophthisis
MIX
P387-A4
VERSION
Vs. A4-01
DATE
23-01-2021
REGION
NPHP1 2q13
APPLICATION
Nephronophthisis 1 (NPH1); Senior-Loken syndrome type 1 (SLSN1); Joubert syndrome type 4 (JBTS4)
MIX
P388-A2
VERSION
Vs. 03
DATE
24-06-2015
REGION
RNASEHB, C & D genes, TREX1, SAMHD1
APPLICATION
Aicardi-Goutieres Syndrome
MIX
P388-A2
VERSION
Vs. A2-01
DATE
21-02-2019
REGION
RNASEHB, C & D genes, TREX1, SAMHD1
APPLICATION
Aicardi-Goutieres Syndrome
MIX
P389-B1
VERSION
Vs. B1-01
DATE
09-01-2019
REGION
MLL2 12q13.12
APPLICATION
Kabuki syndrome
MIX
P389-B1
VERSION
Vs. B1-02
DATE
22-09-2022
REGION
MLL2 12q13.12
APPLICATION
Kabuki syndrome
MIX
P390-A1
VERSION
Vs. 02
DATE
02-12-2012
REGION
TBX4, TBX2, 17q23.1-q23.2
APPLICATION
Small Patella Syndrome
MIX
P391-A3
VERSION
Vs. A3-01
DATE
25-02-2019
REGION
LAMA2
APPLICATION
CMD, Merosin-deficient
MIX
P391-A3
VERSION
Vs. A3-02
DATE
15-08-2022
REGION
6q22.33
APPLICATION
Merosin-deficient congenital muscular dystrophy type 1A
MIX
P392-A3
VERSION
Vs.A3-01
DATE
25-02-2019
REGION
LAMA2
APPLICATION
CMD, Merosin-deficient
MIX
P392-A3
VERSION
Vs.A3-02
DATE
15-08-2022
REGION
6q22.33
APPLICATION
Merosin-deficient congenital muscular dystrophy type 1A
MIX
P393-A1
VERSION
Vs. 01
DATE
06-10-2011
REGION
SLC26A3 7q31.1
APPLICATION
Congenital Chloride Diarrhoea
MIX
P393-A1
VERSION
Vs. 02
DATE
30-11-2012
REGION
SLC26A3 7q31.1
APPLICATION
Congenital Chloride Diarrhoea
MIX
P394-A1
VERSION
Vs. 01
DATE
17-05-2011
REGION
MYO5B 18q21.1
APPLICATION
Microvillus Inclusion Disease (MVID)
MIX
P394-A1
VERSION
Vs. 03
DATE
30-11-2012
REGION
MYO5B 18q21.1
APPLICATION
Microvillus Inclusion Disease (MVID)
MIX
P395-A2
VERSION
Vs. 03
DATE
02-04-2014
REGION
MEF2C 5q14.3, FOXG1 14q12
APPLICATION
mental retardation
MIX
P395-A2
VERSION
Vs. 04
DATE
12-09-2017
REGION
MEF2C 5q14.3, FOXG1 14q12
APPLICATION
mental retardation
MIX
P395-B1
VERSION
Vs. B1-01
DATE
02-07-2021
REGION
MEF2C 5q14.3, FOXG1 14q12
APPLICATION
intellectual disability
MIX
P396-A1
VERSION
Vs. 03
DATE
30-11-2012
REGION
SHANK2 11q13.3
APPLICATION
Autism-spectrum disorder
MIX
P396-A2
VERSION
Vs. 04
DATE
11-03-2015
REGION
SHANK2 11q13.3
APPLICATION
Autism-spectrum disorder
MIX
P396-A2
VERSION
Vs. A2-01
DATE
21-11-2018
REGION
SHANK2 11q13.3
APPLICATION
Autism spectrum disorder
MIX
P397-A1
VERSION
Vs. 04
DATE
03-03-2016
REGION
CACNA1S, SCN4A
APPLICATION
nondystrophic myotonias and primary periodic paralyses
MIX
P397-A2
VERSION
Vs. 05
DATE
15-08-2016
REGION
CACNA1S, SCN4A
APPLICATION
nondystrophic myotonias and primary periodic paralyses
MIX
P397-A3
VERSION
Vs. A3-01
DATE
26-03-2020
REGION
CACNA1S 1q32.1; SCN4A 17q23.3
APPLICATION
Hypokalemic periodic paralysis (HypoPP); Nondystrophic myotonias and primary periodic paralyses
MIX
P398-A1
VERSION
Vs. 04
DATE
25-11-2015
REGION
CASK
APPLICATION
X-linked mental retardation and MICPCH
MIX
P398-A2
VERSION
Vs. A2-01
DATE
05-06-2018
REGION
CASK
APPLICATION
X-linked mental retardation and MICPCH
MIX
P398-A2
VERSION
Vs. A2-02
DATE
25-05-2022
REGION
CASK Xp11.4
APPLICATION
Intellectual disability, X-linked (XLID); Microcephaly with pontine and cerebellar hypoplasia (MICPCH)