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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
P060-B2
VERSION
Vs. B2-04
DATE
07-10-2016
REGION
SMN1, SMN2, 5q13
APPLICATION
Spinal Muscular Atrophy (SMA)
DOWNLOAD
MIX
P060-B2
VERSION
Vs. B2-05
DATE
11-04-2019
REGION
SMN1, SMN2, 5q13
APPLICATION
Spinal Muscular Atrophy (SMA)
DOWNLOAD
MIX
P060-B2
VERSION
Vs. B2-06
DATE
25-06-2020
REGION
SMN1 5q13.2; SMN2 5q13.2
APPLICATION
Spinal Muscular Atrophy (SMA)
DOWNLOAD
MIX
P060-B2
VERSION
Vs. B2-07
DATE
31-05-2021
REGION
SMN1 5q13.2; SMN2 5q13.2
APPLICATION
Spinal muscular atrophy (SMA)
DOWNLOAD
MIX
P060-B2
VERSION
Vs. B2-09
DATE
11-07-2022
REGION
SMN1 5q13.2; SMN2 5q13.2
APPLICATION
Spinal muscular atrophy (SMA)
DOWNLOAD
MIX
P061-C1
VERSION
Vs. 11
DATE
29-02-2016
REGION
LIS1, DCX, POMT1, POMGnT1, FLNA
APPLICATION
Lissencephaly
DOWNLOAD
MIX
P061-D1
VERSION
Vs. 13
DATE
31-01-2017
REGION
LIS1, DCX, POMT1, POMGnT1, FLNA
APPLICATION
Lissencephaly
DOWNLOAD
MIX
P061-D2
VERSION
Vs. D2-01
DATE
26-11-2020
REGION
PAFAH1B1, DCX, POMT1, POMGNT1, FLNA
APPLICATION
Lissencephaly
DOWNLOAD
MIX
P062-D2
VERSION
Vs. D2-02
DATE
04-05-2017
REGION
LDLR 19p13.2
APPLICATION
Hypercholesterolemia, familial
DOWNLOAD
MIX
P062-D2
VERSION
Vs. D2-03
DATE
29-01-2019
REGION
LDLR 19p13.2
APPLICATION
Hypercholesterolemia, familial
DOWNLOAD
MIX
P062-D2
VERSION
Vs. D2-04
DATE
13-08-2020
REGION
LDLR 19p13.2
APPLICATION
Hypercholesterolemia, familial
DOWNLOAD
MIX
P062-D2
VERSION
Vs. D2-05
DATE
14-09-2021
REGION
LDLR 19p13.2
APPLICATION
Hypercholesterolemia, familial
DOWNLOAD
MIX
P062-D2
VERSION
Vs. D2-06
DATE
09-02-2023
REGION
LDLR 19p13.2
APPLICATION
Hypercholesterolemia, familial
DOWNLOAD
MIX
P063-B1
VERSION
Vs. 05
DATE
04-06-2015
REGION
FHIT (3p14.2) and WWOX (16q23.1)
APPLICATION
Diverse tumour types, epileptic encephalopathy
DOWNLOAD
MIX
P063-B1
VERSION
Vs. 06
DATE
15-02-2018
REGION
FHIT (3p14.2) and WWOX (16q23.1)
APPLICATION
Diverse tumour types, epileptic encephalopathy
DOWNLOAD
MIX
P064-C1
VERSION
Vs. 22
DATE
02-04-2013
REGION
various
APPLICATION
Mental Retardation; 1p-deletion, Williams, Smith-Magenis, Miller-Dieker, DiGeorge, Prader-Willi, Alagille, Saethre-Chotzen, Sotos
DOWNLOAD
MIX
P064-C2
VERSION
Vs. C2-02
DATE
21-08-2018
REGION
various
APPLICATION
Mental Retardation; 1p-deletion, Williams, Smith-Magenis, Miller-Dieker, DiGeorge, Prader-Willi, Alagille, Saethre-Chotzen, Sotos
DOWNLOAD
MIX
P065-C1
VERSION
Vs. C1-01
DATE
05-09-2017
REGION
FBN1 15q21.1, TGFBR2 3p22
APPLICATION
Marfan syndrome
DOWNLOAD
MIX
P065-C1
VERSION
Vs. C1-02
DATE
10-01-2020
REGION
FBN1 15q21.1; TGFBR2 3p24.1
APPLICATION
Marfan syndrome; other FBN1-related disorders; other TGFBR2-related disorders
DOWNLOAD
MIX
P065-C1
VERSION
Vs. C1-03
DATE
26-04-2021
REGION
FBN1 15q21.1; TGFBR2 3p24.1
APPLICATION
Marfan syndrome; other FBN1-related disorders; TGFBR2-related disorders
DOWNLOAD
MIX
P065-C1
VERSION
Vs. C1-04
DATE
20-12-2023
REGION
FBN1 15q21.1; TGFBR2 3p24.1
APPLICATION
Marfan syndrome; other FBN1-related disorders; TGFBR2-related disorders
DOWNLOAD
MIX
P066-C1
VERSION
Vs. C1-01
DATE
05-09-2017
REGION
FBN1 15q21.1, TGFBR2 3p22
APPLICATION
Marfan syndrome
DOWNLOAD
MIX
P066-C1
VERSION
Vs. C1-02
DATE
10-01-2020
REGION
FBN1 15q21.1; TGFBR2 3p24.1
APPLICATION
Marfan syndrome; other FBN1-related disorders; other TGFBR2-related disorders
DOWNLOAD
MIX
P066-C1
VERSION
Vs. C1-03
DATE
26-04-2021
REGION
FBN1 15q21.1
APPLICATION
Marfan syndrome; other FBN1-related disorders
DOWNLOAD
MIX
P066-C1
VERSION
Vs. C1-04
DATE
20-12-2023
REGION
FBN1 15q21.1
APPLICATION
Marfan syndrome; other FBN1-related disorders
DOWNLOAD
MIX
P067-B2
VERSION
Vs. 14
DATE
27-01-2015
REGION
PTCH 9q22.3
APPLICATION
Gorlin syndrome
DOWNLOAD
MIX
P067-B3
VERSION
Vs. B3-01
DATE
30-05-2018
REGION
PTCH 9q22.3
APPLICATION
Gorlin syndrome
DOWNLOAD
MIX
P067-B3
VERSION
Vs. B3-02
DATE
30-11-2022
REGION
PTCH1 9q22.3
APPLICATION
Gorlin syndrome; 9q22.3 Microdeletion
DOWNLOAD
MIX
P068
VERSION
Vs. 02
DATE
21-05-2008
REGION
HMGSC2 1p13
APPLICATION
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (mHMGS)
DOWNLOAD
MIX
P068-B1
VERSION
Vs. 05
DATE
17-02-2012
REGION
HMGSC2 1p13
APPLICATION
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (mHMGS)
DOWNLOAD
MIX
P069-A2
VERSION
Vs. 20
DATE
09-05-2010
REGION
all subtelomeres
APPLICATION
Broad subtelomeric screening
DOWNLOAD
MIX
P069-A2
VERSION
Vs. 22
DATE
16-02-2012
REGION
all subtelomeres
APPLICATION
Broad subtelomeric screening
DOWNLOAD
MIX
P070-B2
VERSION
Vs. 37
DATE
01-03-2013
REGION
all subtelomeres
APPLICATION
Broad subtelomeric screening
DOWNLOAD
MIX
P070-B3
VERSION
Vs. 38
DATE
14-11-2015
REGION
all subtelomeres
APPLICATION
Broad subtelomeric screening
DOWNLOAD
MIX
P071-B1
VERSION
Vs. 09
DATE
31-03-2016
REGION
LMNB1 5q23.2, PLP1 Xq22.2, NOTCH3 19p13.12
APPLICATION
Leukodystrophy
DOWNLOAD
MIX
P071-B2
VERSION
Vs. B2-01
DATE
07-08-2019
REGION
LMNB1 5q23.2, PLP1 Xq22.2, NOTCH3 19p13.12
APPLICATION
Leukodystrophy
DOWNLOAD
MIX
P071-B2
VERSION
Vs. B2-02
DATE
22-09-2022
REGION
LMNB1 5q23.2; PLP1 Xq22.2; NOTCH3 19p13.12
APPLICATION
Leukodystrophy with autonomic disease, autosomal dominant (ADLD); Pelizaeus-Merzbacher disease; Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CA
DOWNLOAD
MIX
P072-D1
VERSION
Vs. D1-01
DATE
07-11-2018
REGION
MSH6 2p16
APPLICATION
Hereditary nonpolyposis colon cancer (HNPCC)
DOWNLOAD
MIX
P072-D1
VERSION
Vs. D1-02
DATE
15-06-2020
REGION
MSH6, MUTYH
APPLICATION
Hereditary nonpolyposis colon cancer (HNPCC)
DOWNLOAD
MIX
P072-D1
VERSION
Vs. D1-03
DATE
26-07-2021
REGION
MSH6 2p16.3; MUTYH 1p34.1; EPCAM 2p21
APPLICATION
Lynch syndrome; MUTYH-associated polyposis (MAP)
DOWNLOAD
MIX
P072-D1
VERSION
Vs. D1-04
DATE
11-10-2022
REGION
MSH6 2p16.3; MUTYH 1p34.1; EPCAM 2p21
APPLICATION
Lynch syndrome; MUTYH-associated polyposis (MAP)
DOWNLOAD
MIX
P073-A1
VERSION
Vs. 01
DATE
29-01-2016
REGION
Xq28; IKBKG, NEMO, IKBKGP
APPLICATION
Incontinentia Pigmenti
DOWNLOAD
MIX
P073-A1
VERSION
Vs. A1-02
DATE
07-04-2022
REGION
IKBKG Xq28; IKBKGP Xq28; G6PD Xq28; CTAG1A Xq28
APPLICATION
Incontinentia pigmenti
DOWNLOAD
MIX
P074-A3
VERSION
Vs. 07
DATE
07-01-2015
REGION
AR Xq12
APPLICATION
Androgen insensitivity syndrome (AIS)
DOWNLOAD
MIX
P074-A3
VERSION
Vs. A3-01
DATE
19-04-2018
REGION
AR Xq12
APPLICATION
Androgen insensitivity syndrome (AIS)
DOWNLOAD
MIX
P074-A4
VERSION
Vs. A4-01
DATE
25-03-2020
REGION
AR Xq12
APPLICATION
Androgen insensitivity syndrome (AIS); Spinal and bulbar muscular atrophy (SBMA)
DOWNLOAD
MIX
P074-A4
VERSION
Vs. A4-02
DATE
07-03-2022
REGION
AR Xq12
APPLICATION
Androgen insensitivity syndrome (AIS); Spinal and bulbar muscular atrophy (SBMA)
DOWNLOAD
MIX
P075-B1
VERSION
Vs. 08
DATE
04-07-2014
REGION
TCF4, FOXG1
APPLICATION
Pitt-Hopkins syndrome, Congential variant of Rett syndrome
DOWNLOAD
MIX
P075-B2
VERSION
Vs. B2-01
DATE
21-02-2018
REGION
TCF4, FOXG1
APPLICATION
Pitt-Hopkins syndrome, Congential variant of Rett syndrome
DOWNLOAD
MIX
P075-B2
VERSION
Vs. B2-02
DATE
10-11-2021
REGION
TCF4 18q21.2; FOXG1 14q12
APPLICATION
Pitt-Hopkins syndrome (PTHS); RETT syndrome, congenital variant
DOWNLOAD
MIX
P076-B1
VERSION
Vs. 05
DATE
21-12-2012
REGION
ACADVL, SLC22A5
APPLICATION
VLCAD/Primary Carnitine
DOWNLOAD
MIX
P076-B2
VERSION
Vs. 08
DATE
07-03-2018
REGION
ACADVL, SLC22A5
APPLICATION
VLCAD/Primary Carnitine
DOWNLOAD
MIX
P076-B3
VERSION
Vs. B3-01
DATE
24-09-2021
REGION
ACADVL 17p13.1; SLC22A5 5q31.1
APPLICATION
Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCAD deficiency); Systemic primary carnitine deficiency (CDSP)
DOWNLOAD
MIX
P077-B1
VERSION
Vs. 01
DATE
15-09-2017
REGION
BRCA2
APPLICATION
Breast cancer, hereditary
DOWNLOAD
MIX
P077-B1
VERSION
Vs. B1-03
DATE
13-05-2019
REGION
BRCA2
APPLICATION
Breast cancer, hereditary
DOWNLOAD
MIX
P078-C1
VERSION
Vs. 05
DATE
02-12-2012
REGION
various
APPLICATION
Breast tumour
DOWNLOAD
MIX
P079-A2
VERSION
Vs. 10
DATE
01-03-2013
REGION
OTC Xp21.1
APPLICATION
Ornithine cabamoyltransferase (OTC)
DOWNLOAD
MIX
P079-A3
VERSION
Vs. 12
DATE
27-11-2015
REGION
OTC Xp21.1
APPLICATION
Ornithine cabamoyltransferase (OTC)
DOWNLOAD
MIX
P079-A3
VERSION
Vs. 13
DATE
02-11-2017
REGION
OTC Xp11.4
APPLICATION
Ornithine transcarbamylase deficiency (OTC deficiency)
DOWNLOAD
MIX
P079-A4
VERSION
Vs. A4-01
DATE
03-05-2021
REGION
OTC Xp11.4
APPLICATION
Ornithine transcarbamylase deficiency (OTC deficiency)
DOWNLOAD