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SALSA MLPA Probemix P324 22q11

22q11

Region: 22q11

General information: The SALSA MLPA Probemix P324 22q11 is a research use only (RUO) assay for the detection of deletions or duplications in the 22q11 chromosomal region. Microdeletions/-duplications in the 22q11.2 region cause a variety of disorders, including the 22q11.2 distal deletion syndrome (MIM 611867), the 22q11.2 microduplication syndrome (MIM 608363), DiGeorge syndrome (DGS; MIM 188400), velocardiofacial syndrome (VCFS; MIM 192430) and cat eye syndrome (CES; MIM 115470). We recommend the use of the SALSA MLPA Probemix P250 DiGeorge as a primary screening for DiGeorge syndrome.

The high frequency of 22q11.2 copy number changes is due to the presence of several low copy repeats (LCRs), labelled A-H, which facilitate misalignment. The overall birth prevalence of 22q11.2 deletions appears to be approximately 1 in 4,000. The 22q11.2 deletion syndrome is inherited in an autosomal dominant manner, with about 93% of probands having a de novo deletion, whereas the remaining 7% of probands have inherited the 22q11.2 deletion from a parent. The 22q11.2 deletion syndrome, which includes DGS and VCFS, most often (85%) results from a 3 Mb deletion on the 22q11.2 region. This 3 Mb deleted region is flanked by LCR-A and LCR-D, and includes the TBX1 gene. The remaining 15% of affected individuals have smaller, atypical deletions, which can include LCR A-B, B-D or C-D deletions. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations. Point mutations in this gene have also been observed in individuals with DGS. The phenotype of individuals with 22q11.2 deletion syndrome is characterised by palatal anomalies, congenital heart problems and distinct facial features. More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1523/.

The 22q11.2 microduplication syndrome is inherited in an autosomal dominant manner. Most individuals with a 22q11.2 duplication have inherited the duplication from a parent, but de novo 22q11.2 duplications also occur. The penetrance of 22q11.2 duplication is incomplete. The phenotype is generally mild and highly variable. It is characterised by intellectual disability, delayed psychomotor development, growth retardation and/or hypotonia. More information is available at https://www.ncbi.nlm.nih.gov/books/NBK3823/.

CES has a large clinical variability, ranging from marginally affected individuals to those with the full pattern of malformations and a lethal outcome. The eyes are predominantly affected. CES is caused by a small, dicentric, supernumerary chromosome 22 representing an inv dup (22)(q11). In many cases this chromosomal abnormality is mosaic.

Probemix content: The SALSA MLPA Probemix P324-B1 22q11 contains 40 MLPA probes with amplification products between 130 and 463 nucleotides (nt). This includes 28 probes for the 22q11 chromosomal region, among which seven probes for the TBX1 gene, and one probe for the 22q12.1 chromosomal region. In addition, 11 reference probes are included, detecting several different autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes is available online (www.mlpa.com).

This Probemix contains nine quality control fragments generating amplification products between 64 and 121 nt: four DNA Quantity Fragments (Q-fragments), two DNA Denaturation Fragments (D-fragments), one Benchmark Fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at www.mlpa.com.

Order Items

Probemix

Item no.
Description
Technology
Price
P324-025R
SALSA MLPA Probemix P324 22q11 – 25 rxn
€ 243.00
P324-050R
SALSA MLPA Probemix P324 22q11 – 50 rxn
€ 486.00
P324-100R
SALSA MLPA Probemix P324 22q11 – 100 rxn
€ 972.00

Required Reagents

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA EK1 reagent kit – 100 rxn – FAM
€ 300.00
EK1-Cy5
SALSA MLPA EK1 reagent kit – 100 rxn – Cy5
€ 300.00
EK5-FAM
SALSA MLPA EK5 reagent kit – 500 rxn – FAM
€ 1380.00
EK5-Cy5
SALSA MLPA EK5 reagent kit – 500 rxn – Cy5
€ 1380.00
EK20-FAM
SALSA MLPA EK20 reagent kit – 2000 rxn – FAM
€ 5295.00

Related Products

SALSA MLPA Probemix P064 Microdeletion Syndromes-1B

Contains probes for the 22q11 DiGeorge region.

SALSA MLPA Probemix P245 Microdeletion Syndromes-1A

Contains probes for the 22q11 DiGeorge region.

SALSA MLPA Probemix P250 DiGeorge

Primary screening of the DiGeorge region.

SALSA MLPA Probemix P258 SMARCB1

Contains probes for the SMARCB1 gene at 22q11.23, associated with rhabdoid tumours.

SALSA MLPA Probemix P455 LZTR1

Contains probes for the LZTR1 gene at 22q11.21, associated with schwannomatosis.

SALSA MLPA Probemix P463 MRKH

Contains probes for the TBX1 gene at 22q11.21, associated with Mayer-Rokitansky-Küster-Hauser syndrome.

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