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
P160-B1
VERSION
Vs. 08
DATE
23-07-2013
REGION
STS Xp22
APPLICATION
Steroid Sulfatase gene (STS)
MIX
P160-C1
VERSION
Vs. 09
DATE
22-09-2016
REGION
STS Xp22
APPLICATION
Steroid Sulfatase gene (STS)
MIX
P160-C1
VERSION
Vs. C1-01
DATE
20-03-2020
REGION
STS Xp22.31
APPLICATION
Ichthyosis, X-linked (XLI)
MIX
P163-E1
VERSION
Vs. E1-05
DATE
19-05-2023
REGION
GJB3 1p34.3; WFS1 4p16.1; POU3F4 region Xq21.1, 13q12 region
APPLICATION
Hearing loss; Wolfram syndrome type 1
MIX
P164-B2
VERSION
Vs. 11
DATE
28-03-2014
REGION
IDS Xq28
APPLICATION
Mucopolysaccharidosis type II, or Hunter syndrome
MIX
P164-B3
VERSION
Vs. B3-01
DATE
19-09-2019
REGION
IDS Xq28
APPLICATION
Mucopolysaccharidosis type II
MIX
P165-C2
VERSION
Vs. 24
DATE
11-11-2015
REGION
SPG3A 14q21, SPAST 2p22
APPLICATION
Spastic paraplegia, hereditary (HSP)
MIX
P165-C3
VERSION
Vs. C3-01
DATE
12-08-2019
REGION
ATL1 14q21.1; SPAST 2p22.3
APPLICATION
Spastic paraplegia 3A (SPG3A); Spastic paraplegia 4 (SPG4)
MIX
P165-C3
VERSION
Vs. C3-02
DATE
15-01-2021
REGION
ATL1 14q21.1; SPAST 2p22.3
APPLICATION
Spastic paraplegia 3A (SPG3A); Spastic paraplegia 4 (SPG4)
MIX
P165-C3
VERSION
Vs. C3-03
DATE
24-02-2023
REGION
ATL1 14q21.1; SPAST 2p22.3
APPLICATION
Spastic paraplegia 3A (SPG3A); Spastic paraplegia 4 (SPG4)
MIX
P166-C1
VERSION
Vs. 09
DATE
05-11-2015
REGION
KCNQ2 20q13.33
APPLICATION
Benign familial neonatal convulsion (BFNC)
MIX
P166-C2
VERSION
Vs. C2-01
DATE
17-07-2018
REGION
KCNQ2 20q13.33
APPLICATION
Benign familial neonatal convulsion (BFNC)
MIX
P168-C1
VERSION
Vs. 10
DATE
13-03-2015
REGION
DSP 6p24, PKP2 12q11.21
APPLICATION
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
MIX
P168-C2
VERSION
Vs. 11
DATE
25-07-2016
REGION
DSP 6p24, PKP2 12q11.21
APPLICATION
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
MIX
P168-D1
VERSION
Vs. D1-01
DATE
29-07-2020
REGION
DSP 6p24.3; PKP2 12q11.21
APPLICATION
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
MIX
P169-C1
VERSION
Vs.10
DATE
18-03-2013
REGION
RET 10q11.2, ZFHX1B 2q22.3, EDN3 20q13.3 and GDNF 5q13.2
APPLICATION
Hirschsprung disease, or Aganglionic Megacolon
MIX
P169-C2
VERSION
Vs.12
DATE
12-11-2015
REGION
RET 10q11.2, ZFHX1B 2q22.3, EDN3 20q13.3 and GDNF 5q13.2
APPLICATION
Hirschsprung disease, or Aganglionic Megacolon
MIX
P169-C2
VERSION
Vs.C2-01
DATE
15-11-2019
REGION
RET 10q11.21; ZEB2 2q22.3; EDN3 20q13.32; GDNF 5q13.2
APPLICATION
Hirschsprung disease (HSCR)
MIX
P170-C1
VERSION
Vs. 12
DATE
22-07-2015
REGION
APP 21q21.3
APPLICATION
Alzheimer disease, early-onset
MIX
P170-C2
VERSION
Vs. 13
DATE
05-02-2016
REGION
APP 21q21.3
APPLICATION
Alzheimer disease, early-onset
MIX
P170-C3
VERSION
Vs. C3-01
DATE
29-01-2020
REGION
APP 21q21.3
APPLICATION
Alzheimer disease, early-onset familial
MIX
P176-C2
VERSION
Vs. 10
DATE
02-04-2014
REGION
CAPN3 15q15.1
APPLICATION
Limb girdle muscular dystrophy 2A (LGMD2A)
MIX
P176-C3
VERSION
Vs. 11
DATE
27-06-2017
REGION
CAPN3 15q15.1
APPLICATION
Limb girdle muscular dystrophy 2A (LGMD2A)
MIX
P176-C3
VERSION
Vs. C3-01
DATE
11-12-2020
REGION
CAPN3 15q15.1
APPLICATION
Limb-girdle muscular dystrophy 2A (LGMD2A)
MIX
P177-B2
VERSION
Vs. 08
DATE
27-10-2016
REGION
CASR 3q13
APPLICATION
Hypocalciuric Hypercalcemia, familial
MIX
P177-B2
VERSION
Vs. B2-01
DATE
19-02-2019
REGION
CASR 3q13
APPLICATION
Hypocalciuric Hypercalcemia, familial
MIX
P177-B3
VERSION
Vs. B3-01
DATE
16-01-2020
REGION
CASR 3q13-q21
APPLICATION
Hypocalciuric hypercalcemia type 1, familial (HHC1)
MIX
P178-B3
VERSION
Vs. 14
DATE
04-02-2016
REGION
FVIII Xq28
APPLICATION
Haemophilia A, x-linked
MIX
P178-B4
VERSION
Vs. B4-01
DATE
13-12-2019
REGION
F8 Xq28
APPLICATION
Haemophilia A, X-linked
MIX
P179-B1
VERSION
Vs. 13
DATE
01-03-2013
REGION
GLI3 7p13, HOXD13 2q31, ROR2 9q22
APPLICATION
Limb malformations
MIX
P179-B1
VERSION
Vs. 14
DATE
15-07-2015
REGION
GLI3 7p13, HOXD13 2q31, ROR2 9q22
APPLICATION
Limb malformations
MIX
P179-B1
VERSION
Vs. B1-01
DATE
12-09-2018
REGION
GLI3 7p14.1; HOXD13 2q31.1; ROR2 9q22.31
APPLICATION
Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; ROR2-related Robinow syndrome; Synpolydactyly (SPD); Brachydactyly type E1 (BDE1); Brachydactyly type B1 (BDB1)
MIX
P179-B1
VERSION
Vs. B1-02
DATE
19-04-2022
REGION
GLI3 7p14.1; HOXD13 2q31.1; ROR2 9q22.31
APPLICATION
Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; ROR2-related Robinow syndrome; Synpolydactyly (SPD); Brachydactyly type E1 (BDE1); Brachydactyly type B1 (BDB1)