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SALSA MLPA Probemix P188 22q13

Phelan-Mcdermid syndrome

Region: 22q13.3; SHANK3 22q13.33; ACR 22q13.33; RABL2B 22q13.33

General information: The SALSA MLPA Probemix P188 22q13 is a research use only (RUO) assay for the detection of deletions or duplications in the 22q12 and 22q13 chromosomal regions. A partial 22q13 deletion is associated with the Phelan-McDermid syndrome (22q13.3 deletion syndrome).

The Phelan-McDermid syndrome (PHMDS; OMIM 606232) is characterised by severe expressive language delay and mild mental retardation. Most patients display hypotonia and normal to accelerated growth. PHMDS, caused by a deletion of 22q13.3 that includes at least part of SHANK3 or a pathogenic variant in SHANK3, is inherited in an autosomal dominant manner. Most cases are however not inherited, but occur de novo. Haploinsufficiency of the SHANK3 gene is very likely the cause of the major neurological features associated with PHMDS. Deletion of additional genes probably causes more complex phenotypes in individuals with larger deletions. The most common cause of PHMDS are terminal chromosomal deletions (including SHANK3), which are extremely variable in size: ranging from <50 kb to >9 Mb. Interstitial deletions, intragenic deletions/pathogenic variants in SHANK3, ring chromosomes, and unbalanced translocations have also been described as causes of PHMDS.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1198/.

Probemix content:
The SALSA MLPA Probemix P188-C1 22q13 contains 46 MLPA probes with amplification products between 130 and 500 nucleotides (nt). This includes 30 probes for the 22q13 chromosomal region and four probes for the 22q12 chromosomal region. Four of the 22q13 probes detect sequences in the SHANK3 gene. In addition, 12 reference probes are included which detect 12 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 105 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
P188-025R
SALSA MLPA Probemix P188 22q13 – 25 rxn
€ 243.00
P188-050R
SALSA MLPA Probemix P188 22q13 – 50 rxn
€ 486.00
P188-100R
SALSA MLPA Probemix P188 22q13 – 100 rxn
€ 972.00

Required Reagents (Sold Separately)

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 P245 Microdeletion Syndromes-1A

Contains a probe for the SHANK3 and RABL2B gene (22q13.33).

SALSA MLPA Probemix P250 DiGeorge

Contains a probe for the ARSA and SHANK3 gene (22q13.33).

SALSA MLPA Probemix P339 SHANK3

Contains probes for the SHANK3 gene (22q13.33) and some flanking probes.

SALSA MLPA Probemix P343 Autism-1

Contains a few probes for the SHANK3 gene (22q13.33).

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