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SALSA MLPA Probemix P250 DiGeorge

SALSA® MLPA® Probemix P250 DiGeorge detects copy number variations in the 22q11.2, 22q11.1, 22q13.3, 4q, 8p, 9q, 10p and 17p regions.

Specifications

Contents: 48 MLPA probes, including 29 probes for the 22q11.2 region, 1 probe for the 22q11.1 region, 17 probes for the 4q, 8p, 9q, 10p, 17p regions and 2 probes for the 22q13 region.

Tissue: genomic DNA isolated from human peripheral whole blood, buccal swabs or specified prenatal samples (see Intended Purpose)

Application: 22q11.2 deletion/duplication syndrome (DS/DupS), cat eye syndrome (CES), DiGeorge syndrome (DGS) type II and disorders with phenotypic features of DGS.

CE-marked and registered for in vitro diagnostic (IVD) use in selected territories.

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Key related products

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Intended purpose

The SALSA MLPA Probemix P250 DiGeorge is an in vitro diagnostic (IVD) or a research use only (RUO) semi-quantitative assay for the detection of deletions or duplications in the human 22q11.2 region in genomic DNA isolated from human peripheral whole blood specimens, buccal swabs, (un)cultured amniotic fluid obtained in week 16 of the pregnancy or later and free from blood contamination, (un)cultured chorionic villi free from maternal contamination, or fetal blood. P250 DiGeorge is intended to confirm a potential cause for and clinical diagnosis of 22q11.2 Deletion/Duplication Syndrome or Cat Eye Syndrome (CES). It further contains probes for the detection of copy number status on 4q, 8p, 9q, 10p, and 17p regions to confirm a potential cause for and clinical diagnosis of DiGeorge (DGS) type II or disorders with phenotypic features of DGS. This assay is suitable for initial detection of deletions or duplications of above-mentioned regions or for confirmation of results obtained with a different (MLPA) assay.

For the full intended purpose, see the product description.

Clinical background

One of the most common genetic disorders causing learning disabilities and mild intellectual disability is 22q11.2 Deletion Syndrome (DS). 22q11.2 DS is an autosomal dominant contiguous gene deletion syndrome with a live birth prevalence estimated between 1:3,000 and 1:6,000 among the general population. Cardiac abnormalities are present in ~75% of 22q11.2 DS patients and are the major cause of mortality. Developmental delay, facial dysmorphia, palatal dysfunction, and feeding difficulties are also observed in most individuals with this syndrome. It is now recognized that 22q11.2 DS encompasses the phenotypes previously described as DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), conotruncal anomaly face syndrome (CTAF), and Cayler cardiofacial syndrome (asymmetric crying facies), (GeneReview: https://www.ncbi.nlm.nih.gov/books/NBK1523/).

22q11.2 Duplication syndrome (DupS) is a condition caused by an extra copy of a part of chromosome 22 (~3 Mb). The features of this condition vary widely, even among members of the same family (intrafamilial variability). Affected individuals may have intellectual or learning disability, developmental delay, slow growth leading to short stature, and hypotonia. Many individuals with a 22q11.2 duplication have no apparent physical or intellectual phenotype (Draaken et al. 2010, Sedghi et al. 2015). 22q11.2 DupS is much rarer than 22q11.2 DS, and its prevalence remains undetermined.

Cat Eye Syndrome (CES) has a large phenotypic variability, ranging from near normal to severe physical malformations, predominately affecting the eyes. CES is caused by the presence of an extra 22q11.2 copy between the DGS region and centromere, which usually presents as a small extra chromosome, frequently having two centromeres (https://www.omim.org/entry/115470). In many cases this chromosomal abnormality is mosaic.

The relatively high frequency of 22q11.2 copy number changes is prompted by low-copy number repeat (LCR22) sequences situated in this region. The span of the 22q11.2 deletions is variable, although the most common one (~85%) extends from the first (LCR22-A) until the fourth (LCR22-D) repeat (see Table 2 in the product description), leading to the typical 2.54 Mb deletion. In this P250 DiGeorge probemix, 14 probes target this repeat region. Two other deletions, the proximal nested 1.5-Mb (LCR22A–LCR22B) and 2-Mb (LCR22A–LCR22C) have a combined relative frequency of 5–10%. The distal nested (LCR22B–LCR22D and LCR22C–LCR22D) and other more distal deletions flanked by LCRs C–E; D–E; D–F; E–F; F–G are rare, and combined they only explain about 2% of cases (Lima et al. 2010; Michaelovsky et al. 2012; McDonald-McGinn et al. 2015). Haploinsufficiency of the TBX1 gene, situated between LCR22A and -B, is particularly responsible for most of the physical phenotype observed in 22q11.2 DS. Point mutations in TBX1 have also been observed in individuals with DGS-like phenotypes. Although the majority of DGS cases are explained by 22q11.2 deletions, chromosome defects on 4q, 8p, 9q, 10p, and 17p have also been associated with DiGeorge-like symptoms (see Table 2 in the product description for more information).

Regulatory status

SALSA MLPA Probemix P250 DiGeorge is CE-marked for in vitro diagnostic (IVD) use. This assay has also been registered for IVD use in Colombia and Israel.

This assay is for research use only (RUO) in all other territories.

Product documentation

Version B2

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P250-025R
SALSA MLPA Probemix P250 DiGeorge – 25 rxn
MLPA
€ 281.00
P250-050R
SALSA MLPA Probemix P250 DiGeorge – 50 rxn
MLPA
€ 550.00
P250-100R
SALSA MLPA Probemix P250 DiGeorge – 100 rxn
MLPA
€ 1075.00

Required reagents

A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM (6 vials)
MLPA MS-MLPA
€ 341.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 341.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1571.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1571.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6037.00

Price details & ordering

The prices above are list prices for direct orders from MRC Holland. Contact us for a quote that takes discounts and additional costs (such as shipping costs) into account. Different prices apply for orders through one of our sales partners; contact your local supplier for a quote.

More information about ordering & prices

Positive samples

Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.

The commercially available positive samples below have been tested with the current (B2) version of this product and have been shown to produce useful results.

4q

  • Coriell NA00501: Heterozygous duplication affecting the probes for SLC25A4 and KLKB1.
  • Coriell NA03013: Heterozygous deletion affecting the probes for SLC25A4 and KLKB1.
  • Coriell NA10313: Heterozygous duplication affecting the probes for SLC25A4 and KLKB1.

8p

  • Coriell NA02030: Heterozygous duplication affecting the probes for PPP1R3B, MSRA and GATA4.
  • Coriell NA03255: Heterozygous duplication affecting the probes for PPP1R3B, MSRA and GATA4.
  • Coriell NA12721: Heterozygous deletion affecting the probes for PPP1R3B, MSRA and GATA4.

9q

10p

  • Coriell NA06936: Heterozygous deletion affecting the probes for GATA3, TCEB1P3 and CELF2.

17p

  • Coriell NA06047: Heterozygous deletion affecting the probes for RPH3AL, GEMIN4 and YWHAE.
  • Coriell NA09208: Heterozygous deletion affecting the probes for RPH3AL, GEMIN4 and YWHAE.

22q

  • Coriell NA02944: Heterozygous deletion affecting the probes in the Cat Eye Syndrome region, and LCR-A to LCR-B region.
  • Coriell NA05401: Heterozygous deletion affecting the probes in the Cat Eye Syndrome region, and LCR-A to LCR-B region with the exception of the probe for DGCR8.
  • Coriell NA07106: Heterozygous duplication affecting the probes targeting chromosome 22.
  • Coriell NA07215: Heterozygous deletion affecting the probes in the LCR-A to LCR-D region.
  • Coriell NA10382: Heterozygous deletion affecting the probes in the LCR-A to LCR-D region.
  • Coriell NA13284: Heterozygous deletion affecting the probes for ARSA and SHANK3.
  • Coriell NA17942: Heterozygous deletion affecting the probes in the LCR-A to LCR-D region.

Resources

General MLPA resources

MLPA education

Publications

References

  • Draaken M et al. (2010). Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy. Eur J Med Genet. 53:55-60.
  • Lima K et al. (2010). Age-dependent clinical problems in a Norwegian national survey of patients with the 22q11.2 deletion syndrome. Eur J Pediatr. 169:983-9.
  • McDonald-McGinn DM et al. (2015). 22q11.2 deletion syndrome. Nat Rev Dis Primers. 1:15071.
  • Michaelovsky E et al. (2012). Genotype-phenotype correlation in 22q11.2 deletion syndrome. BMC Med Genet. 13:122.
  • Sedghi M et al. (2015). Identification of Proximal and Distal 22q11.2 Microduplications among Patients with Cleft Lip and/or Palate: A Novel Inherited Atypical 0.6 Mb Duplication. Genet Res Int. 2015:398063.
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CE

CE-marked products are for In Vitro Diagnostic (IVD) use only in EU (candidate) member states and members of the European Free Trade Association (EFTA), and the UK.

CO

IVD-registered in Colombia.

IL

IVD-registered in Israel.