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SALSA MLPA Probemix P257 TERT-DKC1

Dyskeratosis congenita (DC)

Region: DKC1 Xq28; TERT 5p15.33; TERC 3q26.2

General information
The SALSA MLPA Probemix P257 TERT-DKC1 is a research use only (RUO) assay for the detection of deletions or duplications in the DKC1, TERT and TERC genes, which are associated with dyskeratosis congenita.

Dyskeratosis congenita (DC) is characterised by multiple features including mucocutaneous abnormalities, bone marrow failure and an increased predisposition to cancer (Dokal 2011). While DC exhibits marked clinical and genetic heterogeneity, the wide range of disease manifestations caused by this syndrome have a defective telomere maintenance in common. DC is caused by mutations is several genes, three of which are covered by the P257 TERT-DKC1 probemix, with the mode of inheritance varying by gene. X-linked recessive DC (~25% of DC) is characterized by mutations in the DKC1 gene (Dokal et al. 2015), which encodes dyskerin, a component of H/ACA small nucleolar ribonucleoprotein (snoRNP) particles (Dokal 2011). Mutations in TERC, the RNA component, and TERT, the enzymatic component of telomerase, each constitute ~5% of all DC cases (Dokal et al. 2015). Whereas TERC mutations lead to autosomal dominant DC, TERT mutations can lead to either autosomal dominant or autosomal recessive DC. DC has a prevalence of 1 in a million, and 90% of all mutations leading to this syndrome come from single nucleotide variants, although deletions (4.8%) and duplications (2%) have also been observed (AlSabbagh 2020).

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK22301/.

This SALSA MLPA probemix is not CE/FDA registered for use in diagnostic procedures. Purchase of this product includes a limited license for research purposes.

Probemix content
The SALSA MLPA Probemix P257-A3 TERT-DKC1 contains 47 MLPA probes with amplification products between 130 and 490 nucleotides (nt). This includes at least one probe for each of the 15 exons of the DKC1 gene. This probemix also contains at least one probe for each exon of the TERT gene, with the exception of exon 1. Finally, two probes for the single TERC exon and two probes flanking the TERC gene are present. In addition, eleven reference probes are included that detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available online (www.mrcholland.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.mrcholland.com.

Order Items

Probemix

Item no.
Description
Technology
Price
P257-025R
SALSA MLPA Probemix P257 TERT-DKC1 – 25 rxn
€ 281.00
P257-050R
SALSA MLPA Probemix P257 TERT-DKC1 – 50 rxn
€ 550.00
P257-100R
SALSA MLPA Probemix P257 TERT-DKC1 – 100 rxn
€ 1075.00

Required Reagents (Sold Separately)

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

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