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
P405-A1
VERSION
Vs. A1-02
DATE
20-12-2018
REGION
CMT/HNPP region at 17p12
APPLICATION
Charcot Marie Tooth Disease
MIX
P405-A1
VERSION
Vs. A1-03
DATE
25-04-2019
REGION
CMT/HNPP region at 17p12
APPLICATION
Charcot Marie Tooth Disease
MIX
P405-B1
VERSION
Vs. B1-01
DATE
19-06-2020
REGION
CMT/HNPP region 17p12; MPZ 1q23.3; GJB1 Xq13.1
APPLICATION
Charcot-Marie-Tooth neuropathy (CMT); Neuropathy with liability to pressure palsies, hereditary (HNPP)
MIX
P405-B1
VERSION
Vs. B1-02
DATE
06-05-2021
REGION
CMT/HNPP region 17p12; MPZ 1q23.3; GJB1 Xq13.1
APPLICATION
Charcot-Marie-Tooth neuropathy (CMT); Neuropathy with liability to pressure palsies, hereditary (HNPP)
MIX
P405-B1
VERSION
Vs. B1-03
DATE
27-01-2023
REGION
CMT/HNPP region 17p12; MPZ 1q23.3; GJB1 Xq13.1
APPLICATION
Charcot-Marie-Tooth neuropathy (CMT); Neuropathy with liability to pressure palsies, hereditary (HNPP)
MIX
P406-A2
VERSION
Vs. A2-01
DATE
21-02-2019
REGION
RAB7A 3q21.3; GARS 7p15.1; HSPB1 7q11.23; HSPB8 12q24.23; SPTLC1 9q22.31
APPLICATION
Charcot-Marie-Tooth neuropathy type 2B (CMT2B); type 2D (CMT2D); type 2F (CMT2F); type 2L (CMT2L); Sensory neuropathy type IA, hereditary
MIX
P408-A1
VERSION
Vs. 05
DATE
20-11-2015
REGION
ADAM22, GPR98, KCNA1, KCNA4, KCNAB1, LGI1, PDYN
APPLICATION
Autosomal Dominant Lateral Temporal Lobe Epilepsy, ADLTE
MIX
P408-A2
VERSION
Vs. A2-01
DATE
15-03-2018
REGION
ADAM22, GPR98, KCNA1, KCNA4, KCNAB1, LGI1, PDYN
APPLICATION
Autosomal Dominant Lateral Temporal Lobe Epilepsy, ADLTE
MIX
P409-A1
VERSION
Vs. 04
DATE
10-12-2015
REGION
RASA1 5q14.3
APPLICATION
capillary malformations, Parkes Weber syndrome
MIX
P409-B1
VERSION
Vs. B1-01
DATE
30-11-2018
REGION
RASA1 5q14.3
APPLICATION
capillary malformations, Parkes Weber syndrome
MIX
P409-B1
VERSION
Vs. B1-02
DATE
20-09-2022
REGION
RASA1 5q14.3; EPHB4 7q22.1
APPLICATION
Capillary malformations; Parkes Weber syndrome
MIX
P410-A1
VERSION
Vs. 04
DATE
11-12-2015
REGION
16p13.2 GRIN2A, 12p13.1 GRIN2B
APPLICATION
epilepsy, mental retardation
MIX
P410-A1
VERSION
Vs. A1-01
DATE
17-04-2019
REGION
16p13.2 GRIN2A, 12p13.1 GRIN2B
APPLICATION
GRIN2A-related speech disorders and epilepsy; GRIN2B-related neurodevelopmental disorder
MIX
P410-A2
VERSION
Vs. A2-01
DATE
10-08-2022
REGION
GRIN2A 16p13.2; GRIN2B 12p13.1
APPLICATION
GRIN2A-related speech disorders and epilepsy; GRIN2B-related neurodevelopmental disorder
MIX
P411-B2
VERSION
Vs. B2-01
DATE
19-05-2020
REGION
ALAD 9q32; HMBS 11q23.3; PPOX 1q23.3
APPLICATION
Porphyrias
MIX
P411-B3
VERSION
Vs. B3-01
DATE
13-12-2022
REGION
ALAD 9q32; HMBS 11q23.3; PPOX 1q23.3
APPLICATION
Porphyrias
MIX
P412-A1
VERSION
Vs. 02
DATE
30-11-2012
REGION
FECH, UROS, UROD, CPOX
APPLICATION
Porphyrias
MIX
P412-A2
VERSION
Vs. 04
DATE
24-03-2016
REGION
FECH, UROS, UROD, CPOX
APPLICATION
Porphyrias
MIX
P412-A3
VERSION
Vs. A3-01
DATE
11-06-2020
REGION
FECH 18q21.31; UROS 10q26.2; UROD 1p34.1; CPOX 3q11.2
APPLICATION
Porphyrias
MIX
P414-A1
VERSION
Vs. 03
DATE
12-09-2013
REGION
various
APPLICATION
Myelodysplastic syndrome
MIX
P414-B1
VERSION
Vs. 06
DATE
05-08-2016
REGION
various
APPLICATION
Myelodysplastic syndrome
MIX
P414-C1
VERSION
Vs. C1-02
DATE
03-06-2020
REGION
various
APPLICATION
Myelodysplastic syndrome (MDS)
MIX
P415-A1
VERSION
Vs. 01
DATE
14-03-2014
REGION
3p21.31 COL7A1, 12q13.13 KRT5
APPLICATION
Epidermolysis Bullosa Hereditaria
MIX
P415-B1
VERSION
Vs. 02
DATE
14-03-2017
REGION
3p21.31 COL7A1, 12q13.13 KRT5
APPLICATION
Epidermolysis Bullosa Hereditaria
MIX
P416-A1
VERSION
Vs. 01
DATE
04-05-2016
REGION
17q21.2 KRT14; 18q11.2 LAMA3; 1q32.2 LAMB3; 1q25.3 LAMC2
APPLICATION
Epidermolysis Bullosa Hereditaria
MIX
P417-B2
VERSION
Vs. 06
DATE
23-12-2016
REGION
BAP1, 3p21.1
APPLICATION
Melanocytic tumours, mesothelioma
MIX
P417-B3
VERSION
Vs. B3-01
DATE
26-03-2020
REGION
BAP1 3p21.1
APPLICATION
BAP1 tumour predisposition syndrome
MIX
P418-B1
VERSION
Vs. 05
DATE
24-06-2016
REGION
MYH7 14q11.2
APPLICATION
Hypertrophic cardiomyopathy
MIX
P418-B2
VERSION
Vs. B2-01
DATE
04-05-2020
REGION
MYH7 14q11
APPLICATION
Hypertrophic Cardiomyopathy (HCM)
MIX
P419-B1
VERSION
Vs. B1-01
DATE
17-12-2018
REGION
CDKN2A, CDKN2B, CDK4, MITF E318K
APPLICATION
Familial melanoma
MIX
P419-B1
VERSION
Vs. B1-02
DATE
07-06-2019
REGION
CDKN2A 9p21.3; CDKN2B 9p21.3; CDK4 12q14.1; MITF E318K 3p14.1
APPLICATION
Cutaneous melanoma, familial; Pancreatic cancer syndromes
MIX
P419-B1
VERSION
Vs. B1-04
DATE
31-01-2023
REGION
CDKN2A 9p21.3; CDKN2B 9p21.3; CDK4 12q14.1; MITF E318K 3p14.1
APPLICATION
Cutaneous melanoma, familial; Pancreatic cancer syndromes