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
P200-A1
VERSION
Vs. 08
DATE
20-10-2009
REGION
Reference probes + control fragments
APPLICATION
Synthetic 'home-made' probes
MIX
P200-B1
VERSION
Vs. 15
DATE
18-03-2016
REGION
Reference probes + control fragments
APPLICATION
Synthetic 'home-made' probes
MIX
P200-B1
VERSION
Vs. B1-03
DATE
09-03-2023
REGION
Reference probes + control fragments
APPLICATION
Synthetic 'home-made' probes
MIX
P201-C3
VERSION
Vs. 12
DATE
31-08-2016
REGION
CHD7 8q12.2
APPLICATION
Charge syndrome
MIX
P201-C4
VERSION
Vs. C4-01
DATE
03-12-2019
REGION
CHD7 8q12.2
APPLICATION
Charge syndrome
MIX
P202-B2
VERSION
Vs. 08
DATE
17-08-2015
REGION
IKZF1 7p12.2
APPLICATION
Acute lymphoplastic leukemia (ALL), CML
MIX
P202-C1
VERSION
Vs. C1-02
DATE
05-02-2020
REGION
IKZF1 7p12.2; ERG 21q22.2; CDKN2A 9p21.3; CDKN2B 9p21.3; 14q32
APPLICATION
Acute lymphoblastic leukemia (ALL); Chronic myeloid leukemia (CML); Common variable immunodeficiency (CVID)
MIX
P203-B1
VERSION
Vs. 11
DATE
24-02-2016
REGION
PKLR 1q22
APPLICATION
Haemolytic Anaemia, hereditary non-spherocytic
MIX
P203-B2
VERSION
Vs. B2-01
DATE
25-07-2019
REGION
PKLR 1q22
APPLICATION
Haemolytic Anaemia, hereditary non-spherocytic
MIX
P205-B1
VERSION
Vs. 12
DATE
06-04-2016
REGION
SH2D1A Xq25
APPLICATION
Lymphoproliferative syndrome, x-linked (XLP). Duncan disease
MIX
P205-B2
VERSION
Vs. B2-01
DATE
16-10-2019
REGION
SH2D1A Xq25; XIAP Xq25; ITK 5q33.3
APPLICATION
Lymphoproliferative syndrome, x-linked (XLP), Duncan disease
MIX
P207-C3
VERSION
Vs. 11
DATE
05-02-2016
REGION
F9 Xq27.1
APPLICATION
Factor IX deficiency, Christmas disease
MIX
P207-C4
VERSION
Vs. C4-01
DATE
01-02-2019
REGION
F9 Xq27.1
APPLICATION
Factor IX deficiency, Christmas disease
MIX
P207-C4
VERSION
Vs. C4-03
DATE
05-05-2021
REGION
F9 Xq27.1
APPLICATION
Factor IX deficiency, Christmas disease
MIX
P207-D1
VERSION
Vs. D1-01
DATE
10-03-2022
REGION
F9 Xq27.1; F8 Xq28; F7 13q34
APPLICATION
Factor VII deficiency; Hemophilia A; Hemophilia B
MIX
P208-C2
VERSION
Vs. 15
DATE
22-06-2015
REGION
2p, 3p, 6p, 8p
APPLICATION
Subtelomere screening
MIX
P208-C2
VERSION
Vs. 16
DATE
07-09-2017
REGION
2p, 3p, 6p, 8p
APPLICATION
Subtelomere screening
MIX
P209-C1
VERSION
Vs. 08
DATE
21-08-2014
REGION
GLDC 9p22
APPLICATION
Glycine encephalopathy
MIX
P209-C2
VERSION
Vs. 09
DATE
06-12-2017
REGION
GLDC 9p22
APPLICATION
Glycine encephalopathy
MIX
P209-C2
VERSION
Vs. C2-01
DATE
23-09-2021
REGION
GLDC 9p24.1; AMT 3p21.31; GCSH 16q23.2
APPLICATION
Nonketotic Hyperglycinemia (NKH)
MIX
P210-A3
VERSION
Vs. 08
DATE
10-09-2011
REGION
BTK Xq21.3-q22
APPLICATION
Agammaglobulinemia
MIX
P210-B1
VERSION
Vs. 13
DATE
11-05-2017
REGION
BTK Xq21.3-q22
APPLICATION
Agammaglobulinemia
MIX
P211-B4
VERSION
Vs. 16
DATE
27-10-2016
REGION
SPAST 2p22, NIPA1 15q11
APPLICATION
Hereditary Spastic Paraplegias (HSPs) region
MIX
P211-B5
VERSION
Vs. B5-01
DATE
02-07-2019
REGION
SPAST 2p22.3, NIPA1 15q11.2
APPLICATION
Spastic paraplegia 4 (SPG4); Spastic paraplegia 6 (SPG6)
MIX
P212-C2
VERSION
Vs.14
DATE
07-09-2017
REGION
RPL11, RPL35A, RPS17, RPS19, RPS26, RPL5
APPLICATION
Diamond-Blackfan anemia (DBA)
MIX
P212-C2
VERSION
Vs.C2-01
DATE
24-01-2019
REGION
RPL11, RPL35A, RPS17, RPS19, RPS26, RPL5
APPLICATION
Diamond-Blackfan anemia (DBA)
MIX
P212-C3
VERSION
Vs.C3-01
DATE
23-03-2021
REGION
RPL11 1p36.11; RPL5 1p22.1; RPL35A 3q29; RPS26 12q13.2; RPS17 15q25.2; RPS19 19q13.2
APPLICATION
Diamond-Blackfan anemia (DBA)
MIX
P213-B2
VERSION
Vs. 16
DATE
24-06-2016
REGION
REEP1 (SPG31) 2p11.2, SPG7 16q24.3
APPLICATION
Hereditary spastic paraplegias (HSPs)
MIX
P213-B3
VERSION
Vs. B3-01
DATE
21-02-2019
REGION
REEP1 (SPG31) 2p11.2, SPG7 16q24.3
APPLICATION
Hereditary spastic paraplegias (HSPs)
MIX
P213-B3
VERSION
Vs. B3-02
DATE
15-01-2021
REGION
REEP1 2p11.2; SPG7 16q24.3
APPLICATION
Spastic paraplegia type 31 (SPG31); Spastic paraplegia type 7 (SPG7)
MIX
P214-C1
VERSION
Vs. 10
DATE
28-07-2016
REGION
COL2A1 12q13.11-q13.2
APPLICATION
Skeletal disorders, Achondrogenesis, Chondrodysplasia, Early onset familial Osteoarthritis, SED congenital, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome, Spondyloepimetaphyseal
MIX
P214-C1
VERSION
Vs. C1-01
DATE
21-11-2019
REGION
COL2A1 12q13.11
APPLICATION
Skeletal disorders, Achondrogenesis, Chondrodysplasia, Early onset familial Osteoarthritis, SED congenital, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome, Spondyloepime
MIX
P214-C2
VERSION
Vs. C2-01
DATE
10-08-2023
REGION
COL2A1 12q13.11
APPLICATION
Skeletal disorders, Achondrogenesis, Chondrodysplasia, Early onset familial Osteoarthritis, SED congenital, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome, Spondyloepime
MIX
P215-B3
VERSION
Vs. 12
DATE
18-05-2016
REGION
EXT1 8q24, EXT2 11p12
APPLICATION
Multiple Osteochondromas
MIX
P215-B4
VERSION
Vs. B4-01
DATE
07-11-2019
REGION
EXT1 8q24.11; EXT2 11p11.2
APPLICATION
Multiple osteochondromas, hereditary
MIX
P216-B1
VERSION
Vs. 13
DATE
01-08-2015
REGION
GH1, LHX4, POU1F1, HESX1, PROP1, GHRHR, LHX3
APPLICATION
Growth Hormone Deficiency (GHD)
MIX
P216-B2
VERSION
Vs. B2-01
DATE
14-08-2019
REGION
GH1, LHX4, POU1F1, HESX1, PROP1, GHRHR, LHX3
APPLICATION
Growth Hormone Deficiency (GHD)
MIX
P216-B2
VERSION
Vs. B2-02
DATE
01-06-2021
REGION
GH1, LHX4, POU1F1, HESX1, PROP1, GHRHR, LHX3
APPLICATION
Growth Hormone Deficiency (GHD)
MIX
P216-C1
VERSION
Vs. C1-01
DATE
03-08-2023
REGION
GH1, LHX4, POU1F1, HESX1, PROP1, GHRHR, LHX3
APPLICATION
Growth Hormone Deficiency (GHD)
MIX
P217-B2
VERSION
Vs. 09
DATE
31-01-2014
REGION
IGFR1, IGFBP3
APPLICATION
Insulin-like growth factor 1 receptor (IGF1R)
MIX
P217-B2
VERSION
Vs. 10
DATE
27-07-2017
REGION
IGFR1, IGFBP3
APPLICATION
Insulin-like growth factor 1 receptor (IGF1R)
MIX
P217-C1
VERSION
Vs. C1-01
DATE
06-04-2021
REGION
IGFR1 15q26.3; IGFBP3 7p12.3
APPLICATION
Insulin-like growth factor 1 receptor (IGF1R)
MIX
P218-C1
VERSION
Vs. 08
DATE
15-07-2015
REGION
LPL 8p21.3
APPLICATION
LPL deficiency
MIX
P218-C2
VERSION
Vs. 09
DATE
27-10-2015
REGION
LPL 8p21.3
APPLICATION
LPL deficiency
MIX
P218-C2
VERSION
Vs. C2-02
DATE
02-03-2022
REGION
LPL 8p21.3
APPLICATION
Lipoprotein lipase (LPL) deficiency, familial
MIX
P219-B3
VERSION
Vs. 12
DATE
13-01-2017
REGION
PAX6 11p13, SOX2 3q26, WT1, 11p13
APPLICATION
Ocular malformations, hereditary
MIX
P219-B4
VERSION
Vs. B4-01
DATE
19-09-2019
REGION
PAX6 11p13, SOX2 3q26, WT1, 11p13
APPLICATION
SOX2-related eye disorders; PAX6-related aniridia; Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome