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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
P300-A2
VERSION
Vs. 11
DATE
10-12-2012
REGION
Reference probes + control fragments
APPLICATION
Synthetic 'home-made' probes
DOWNLOAD
MIX
P300-B1
VERSION
Vs. 14
DATE
04-09-2015
REGION
Reference probes + control fragments
APPLICATION
Synthetic 'home-made' probes
DOWNLOAD
MIX
P301-A1
VERSION
Vs. 05
DATE
01-03-2013
REGION
Chr. 6, Chr. 14, Chr. 16, Chr. 17.
APPLICATION
Medulloblastoma
DOWNLOAD
MIX
P301-A2
VERSION
Vs. 06
DATE
27-09-2013
REGION
Chr. 6, Chr. 14, Chr. 16, Chr. 17.
APPLICATION
Medulloblastoma
DOWNLOAD
MIX
P302-A2
VERSION
Vs. 06
DATE
27-09-2013
REGION
Chr. 2, Chr. 3, Chr. 7, Chr. 9
APPLICATION
Medulloblastoma
DOWNLOAD
MIX
P302-A3
VERSION
Vs. A3-01
DATE
24-09-2020
REGION
Chromosomes 2, 3, 7 and 9
APPLICATION
Medulloblastoma
DOWNLOAD
MIX
P303-A2
VERSION
Vs. 06
DATE
27-09-2013
REGION
Chr. 1, Chr. 4, Chr. 5, Chr. 8, Chr. 10, Chr. 20
APPLICATION
Medulloblastoma
DOWNLOAD
MIX
P303-A3
VERSION
Vs. A3-03
DATE
01-04-2022
REGION
Chromosomes 1, 4q, 5q, 8, 10 and 20
APPLICATION
Medulloblastoma
DOWNLOAD
MIX
P304-A1
VERSION
Vs. 05
DATE
18-12-2012
REGION
IRF6 1q32.2
APPLICATION
Van der Woude syndrome (VWS)
DOWNLOAD
MIX
P304-B1
VERSION
Vs. 07
DATE
10-02-2016
REGION
IRF6 1q32.2
APPLICATION
Van der Woude syndrome (VWS)
DOWNLOAD
MIX
P305-B2
VERSION
Vs. 10
DATE
03-04-2014
REGION
AGXT, GRHPR
APPLICATION
Primary hyperoxaluria, type 1 (PH1) & type 2 (PH2)
DOWNLOAD
MIX
P305-B2
VERSION
Vs. 11
DATE
12-10-2016
REGION
AGXT, GRHPR
APPLICATION
Primary hyperoxaluria, type 1 (PH1) & type 2 (PH2)
DOWNLOAD
MIX
P305-B2
VERSION
Vs. B2-01
DATE
20-10-2020
REGION
AGXT2q37.3; GRHPR 9p13.2
APPLICATION
Primary hyperoxaluria type 1 (PH1); Primary hyperoxaluria type 2 (PH2)
DOWNLOAD
MIX
P305-B3
VERSION
Vs. B3-01
DATE
24-05-2022
REGION
AGXT 2q37.3; GRHPR 9p13.2
APPLICATION
Primary hyperoxaluria type 1 (PH1); Primary hyperoxaluria type 2 (PH2)
DOWNLOAD
MIX
P306-B1
VERSION
Vs. 09
DATE
09-09-2015
REGION
SPG11 or KIAA1840 15q21.1
APPLICATION
Hereditary spastic paraplegia (HSP or SPG)
DOWNLOAD
MIX
P306-B2
VERSION
Vs. 10
DATE
01-12-2017
REGION
SPG11 or KIAA1840 15q21.1
APPLICATION
Hereditary spastic paraplegia (HSP or SPG)
DOWNLOAD
MIX
P306-B2
VERSION
Vs. B2-01
DATE
24-11-2021
REGION
SPG11 15q21.1
APPLICATION
Spastic paraplegia 11 (SPG11)
DOWNLOAD
MIX
P307-B2
VERSION
Vs. 07
DATE
22-04-2015
REGION
SEPT9 17q25.3
APPLICATION
Hereditary neuralgic amyotrophy (HNA)
DOWNLOAD
MIX
P307-B3
VERSION
Vs. B3-01
DATE
18-12-2018
REGION
SEPT9 17q25.3
APPLICATION
Neuralgic amyotrophy, hereditary (HNA)
DOWNLOAD
MIX
P307-B4
VERSION
Vs. B4-01
DATE
22-07-2022
REGION
SEPT9 17q25.3
APPLICATION
Neuralgic amyotrophy, hereditary (HNA)
DOWNLOAD
MIX
P308-B1
VERSION
Vs. 02
DATE
07-08-2015
REGION
MET 7q31, PTEN 10q23.31, LRRK2 12q12
APPLICATION
Papillary renal carcinoma, various cancers
DOWNLOAD
MIX
P308-B2
VERSION
Vs. B2-01
DATE
07-08-2020
REGION
MET (7q31.2), PTEN (10q23.31) and LRRK2 (12q12)
APPLICATION
Papillary renal carcinoma; Other cancer types
DOWNLOAD
MIX
P309-B1
VERSION
Vs. 05
DATE
02-12-2013
REGION
MTM1 Xq28, MTMR1 Xq28
APPLICATION
Myotubular myopathy, x-linked (XLMTM)
DOWNLOAD
MIX
P309-B1
VERSION
Vs. 07
DATE
20-01-2017
REGION
MTM1 Xq28, MTMR1 Xq28
APPLICATION
Myotubular myopathy, x-linked (XLMTM)
DOWNLOAD
MIX
P309-B2
VERSION
Vs. B2-01
DATE
21-07-2020
REGION
MTM1 Xq28; MTMR1 Xq28
APPLICATION
Myotubular myopathy, X-linked (XLMTM)
DOWNLOAD
MIX
P310-B2
VERSION
Vs. 11
DATE
20-11-2015
REGION
TCOF1
APPLICATION
Treacher Collins-Franceschetti 1
DOWNLOAD
MIX
P310-B3
VERSION
Vs. 12
DATE
25-10-2017
REGION
TCOF1
APPLICATION
Treacher Collins-Franceschetti 1
DOWNLOAD
MIX
P310-B3
VERSION
Vs. 13
DATE
10-11-2020
REGION
TCOF1 5q32-q33.1
APPLICATION
Treacher Collins-Franceschetti syndrome
DOWNLOAD
MIX
P310-B4
VERSION
Vs. B4-02
DATE
10-08-2021
REGION
TCOF1 5q32-q33.1
APPLICATION
Treacher Collins-Franceschetti syndrome
DOWNLOAD
MIX
P311-B1
VERSION
Vs. 07
DATE
29-07-2016
REGION
GATA4 8p23, NKX2-5 5q35, TBX5 12q24, BMP4 14q22, CRELD1 3p25
APPLICATION
Congenital Heart Disease (CHD)
DOWNLOAD
MIX
P311-B2
VERSION
Vs. B2-01
DATE
24-04-2019
REGION
GATA4 8p23, NKX2-5 5q35, TBX5 12q24, BMP4 14q22, CRELD1 3p25
APPLICATION
Congenital Heart Disease (CHD)
DOWNLOAD
MIX
P311-B2
VERSION
Vs. B2-02
DATE
24-05-2022
REGION
GATA4 8p23, NKX2-5 5q35, TBX5 12q24, BMP4 14q22, CRELD1 3p25
APPLICATION
Congenital Heart Disease (CHD)
DOWNLOAD
MIX
P312-B2
VERSION
Vs. 07
DATE
13-08-2013
REGION
P450 oxireductase gene (POR)
APPLICATION
Congenital adrenal hyperplasia (CAH)
DOWNLOAD
MIX
P312-B2
VERSION
Vs. 08
DATE
18-10-2016
REGION
P450 oxireductase gene (POR)
APPLICATION
Congenital adrenal hyperplasia (CAH)
DOWNLOAD
MIX
P312-B3
VERSION
Vs. B3-01
DATE
30-04-2020
REGION
POR 7q11.23
APPLICATION
Congenital adrenal hyperplasia (CAH); Cytochrome P450 oxidoreductase deficiency
DOWNLOAD
MIX
P313-B2
VERSION
Vs. 11
DATE
21-10-2016
REGION
CREBBP 16p13.3
APPLICATION
Rubinstein–Taybi syndrome (RSTS)
DOWNLOAD
MIX
P313-B3
VERSION
Vs. B3-01
DATE
09-01-2020
REGION
CREBBP 16p13.3
APPLICATION
Rubinstein–Taybi syndrome (RSTS)
DOWNLOAD
MIX
P314-A1
VERSION
Vs. A1-01
DATE
14-08-2019
REGION
ABCA3 16p13.3; SFTPC 8p21.3
APPLICATION
Surfactant Metabolism Dysfunction Pulmonary 2 and 3
DOWNLOAD
MIX
P315-B1
VERSION
Vs. 08
DATE
22-06-2016
REGION
EGFR 7p11
APPLICATION
Tumours, solid
DOWNLOAD
MIX
P315-C1
VERSION
Vs. C1-01
DATE
29-05-2019
REGION
EGFR 7p11.2
APPLICATION
Tumours, solid
DOWNLOAD
MIX
P315-C2
VERSION
Vs. C2-01
DATE
31-01-2023
REGION
EGFR 7p11.2
APPLICATION
Tumours, solid
DOWNLOAD
MIX
P316-B2
VERSION
Vs. 12
DATE
26-09-2016
REGION
SETX 9p34.13, APTX 9p13.3, FXN 9p13
APPLICATION
Recessive Ataxias
DOWNLOAD
MIX
P316-B3
VERSION
Vs. B3-01
DATE
30-04-2018
REGION
SETX 9p34.13, APTX 9p13.3, FXN 9p13
APPLICATION
Recessive Ataxias
DOWNLOAD
MIX
P316-B4
VERSION
Vs. B4-01
DATE
27-09-2021
REGION
SETX 9q34.13; APTX 9p13.3; FXN 9p21.11
APPLICATION
Ataxia with oculomotor apraxia type 1 (AOA1); Ataxia with oculomotor apraxia type 2 (AOA2); Friedreich ataxia (FRDA)
DOWNLOAD
MIX
P318-A2
VERSION
Vs. 04
DATE
18-07-2014
REGION
PHOX2B, GFRA3, GFRA2, GFRA1, EDNRB, NRTN, PSPN, SOX10
APPLICATION
Hirschsprung disease
DOWNLOAD
MIX
P318-B1
VERSION
Vs. 06
DATE
28-09-2017
REGION
PHOX2B, GFRA3, GFRA2, GFRA1, EDNRB, NRTN, PSPN, SOX10
APPLICATION
Hirschsprung disease
DOWNLOAD
MIX
P318-B2
VERSION
Vs. B2-01
DATE
14-10-2021
REGION
PHOX2B 4p13; GFRA3 5q31.2; GFRA2 8p21.3; GFRA1 10q25.3; EDNRB 13q22.3; NRTN 19p13.3; PSPN 19p13.3; SOX10 22q13.1
APPLICATION
Hirschsprung disease (HSCR)
DOWNLOAD
MIX
P319-A2
VERSION
Vs. 07
DATE
03-03-2017
REGION
TPO, PAX8, FOXE1, NKX2-1, TSHR
APPLICATION
Thyroid dysgenesis
DOWNLOAD
MIX
P319-B1
VERSION
Vs. B1-01
DATE
27-09-2018
REGION
TPO, PAX8, FOXE1, NKX2-1, TSHR
APPLICATION
Thyroid dysgenesis
DOWNLOAD
MIX
P319-B2
VERSION
Vs. B2-01
DATE
05-07-2022
REGION
TPO 2p25.3; PAX8 2q13; FOXE1 9q22.33; NKX2-1 14q13.3; TSHR 14q31.1
APPLICATION
Thyroid dysgenesis; Hypothyroidism, congenital; Thyroid dyshormonogenesis 2A; NKX2-1-related disorders; Susceptibility to nonmedullary thyroid cancer-4 (NMTC4); Bamforth-Lazarus syndrome
DOWNLOAD