MLPA probe mixes

Purchase of specific sets of probe mixes via the LGTC

MLPA: Multiplex Ligation-dependent Probe Amplification is a technology designed to detect copy number changes (deletions and duplications) in genomic DNA.

Available probe mixes

The LGTC distributes MLPA-probe mixes to screen several disease-related genes for deletion and duplication mutations. The probe mixes have been validated on series of known exonic deletion / duplication mutation carriers and accurately detected all known rearrangements in these samples. There are several probe mixes available for 50 or 100 reactions for screening of several gene clusters.

  • Alpha- and Beta-globin probe mix=> Thalassemia and HPFH syndromes (HBA and HBB gene clusters)
  • CREBBP probe mix=> Rubinstein-Taybi Syndrome
  • EP300 probe mix=> Rubinstein-Taybi Syndrome
  • EXT1 / EXT2 probe mix=> Hereditary Multiple Exostoses

The probe mixes contain enough probes for 50 or 100 reactions.

Probe mixes information

  • Alpha- and Beta-globin probe mix=> Thalassemia and HPFH syndromes: Deletion and duplication mutations involving the human alpha- (HBA) and beta-globin (HBB) gene clusters have been implicated in alpha- and beta thalassemia and Hereditary Persistence of Fetal Hemoglobin (HPFH) syndromes (HBA: OMIM 141800; HBB / HPFH: OMIM 141900). The HBA MLPA-probe mix contains 35 probes covering a 700 kb region of the alpha-globin gene cluster. Screening 38 selected patient samples for rearrangements involving the alpha-globin gene cluster revealed deletions in 19 (six previously undescribed, including two de novo deletions) (reference 6). The HBA MLPA-probe mix was used successfully by Gergia Lahr et al., University Children’s Hospital, Ulm, Germany (reference 7). The HBB MLPA-probe mix contains 50 probes covering a 500 kb region of the beta-globin gene cluster. Screening 51 selected patient samples for rearrangements involving the beta-globin gene cluster revealed deletions in 31 (three previously undescribed)(reference 6) and excluded their presence in 20.
  • CREBBP probe mix=> Rubinstein-Taybi Syndrome: Mutations in the human CREBBP gene have been shown to cause Rubinstein-Taybi syndrome (RSTS, OMIM 180849). When used to screen 92 RSTS-patients it identified a total of 36 deletion / duplication mutations (reference 5). Compared to FISH analysis using a cosmid probe set (reference 4), the MLPA probe mix revealed several hitherto undetected small deletions as well as a duplication (reference 5).
  • EP300 probe mix=> Rubinstein-Taybi Syndrome: According to Roelfsema et al (reference 5), deletions in the EP300 gene can be associated with Rubinstein-Taybi syndrome (RSTS, OMIM602700).
  • EXT1 / EXT2 probe mix=> Hereditary Multiple Exostoses: Mutations in the human EXT1 and EXT2 genes have been implicated in the inherited bone disorder, Hereditary Multiple Exostoses (EXT1: OMIM 608177; EXT2: OMIM 608210). Screening of 18 patients without detectable point mutations in the EXT1 and EXT2 genes revealed five cases with deletions of one or more exons: four in EXT1 and one in EXT2 (reference 2). The EXT1/EXT2 MLPA probe mix was used successfully by Signori et al. (reference 8).


  1. Schouten JP et al. (2002). Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucl.Acids Res. 30: e57.
  2. White SJ et al. (2004). Two-colour MLPA; detecting genomic rearrangements in hereditary multiple exostoses. Hum.Mutat. 24: 86.
  3. White SJ et al. (2003). An alternative to FISH: detecting deletion and duplication carriers within 24 hours. J.Med.Genet. 40: e113.
  4. Giles RH et al. (1997). Construction of a 1.2-Mb contig surrounding, and molecular analysis of, the human CREB-binding protein (CBP/CREBBP) gene on chromosome 16p13.3. Genomics 42: 96.
  5. Roelfsema JH et al. (2005). Genetic heterogeneity in Rubinstein-Taybi Syndrome: mutations in both the CREBBP and EP300 genes cause disease. Am.J.Hum.Genet. 76: 572.
  6. Harteveld CL et al. (2005). Nine unknown rearrangements in 16p13.3 and 11p15.4 causing {alpha}- and {beta}-thalassemia characterised by high resolution multiplex ligation-dependent probe amplification. J Med Genet. May 13; [Epub ahead of print]. PMID: 15894596 .
  7. Jahr et al. (2007). Codon 104(-G), a dominant ß0-thalassemia-like phenotype in a German Caucasian family is associated with mild chronic hemolytic anemia but influenced in severity by co-inherited genetic factors. Haematologica, Vol 92, Issue 9, 1264-1265.
  8. Signori et al. (2007). A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients. Genes Chromosomes Cancer. 2007 May;46(5):470-7.

Prices and orders

Please register at the LGTC order system as a new client.  Once your account has been activated, contact the LGTC at to receive a quotation. We will only be able to distribute the probe mixes after receipt of a signed quotation.  You will receive your order as soon as possible (usually within four weeks) after receipt of the signed quotation.


All instructions (storage, expiration date and protocols) are included in the probe mix. It also includes instructions about other necessary items to be ordered separately.