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SALSA MLPA Probemix P461 STRC-CATSPER2-OTOA

SALSA® MLPA® Probemix P461 STRC-CATSPER2-OTOA detects copy number variations of the STRC, CATSPER2 and OTOA genes as well as gene conversions between STRC and its pseudogene STRCP1.

Specifications

Contents: 45 MLPA probes, including 7 probes for STRC, 5 probes for CATSPER2, 10 probes for OTOA, 4 probes for STRCP1 and 8 flanking probes.

Tissue: genomic DNA isolated from human peripheral whole blood.

Application: deafness-infertility syndrome (DIS), autosomal recessive deafness 16 (DFNB16) or autosomal recessive deafness 22 (DFNB22).

CE-marked for in vitro diagnostic (IVD) use.

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Intended purpose

The SALSA MLPA Probemix P461 STRC-CATSPER2-OTOA is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative assay for the detection of deletions or duplications in the STRC, CATSPER2 and OTOA genes, as well as gene conversions between STRC and its pseudogene STRCP1, in genomic DNA isolated from human peripheral whole blood specimens. P461 STRC-CATSPER2-OTOA is intended to confirm a potential cause for and clinical diagnosis of Deafness-infertility syndrome (STRC and CATSPER2), Autosomal recessive deafness 16 (STRC) and Autosomal recessive deafness 22 (OTOA) and for molecular genetic testing of at-risk family members.

For the full intended purpose, see the product description.

Clinical background

Deafness-infertility syndrome (DIS; OMIM # 611102) is characterized by early-onset deafness in males and females and infertility exclusively in males. The hearing loss in DIS patients is non-progressive and the vestibular function is normal. Furthermore, the degree of hearing loss is moderate to severe. DIS is inherited in an autosomal recessive manner, as a contiguous gene deletion syndrome resulting from a homozygous deletion of the STRC-CATSPER2 genes.

The STRC gene has also been associated to autosomal recessive deafness 16 (DFNB16; OMIM # 603720), a nonsyndromic hearing loss, with prelingual onset. The auditory phenotype in DFNB16 is similar to the auditory phenotype in DIS, where the hearing loss is moderate to severe. DFNB16 is caused by homozygous or compound heterozygous mutations, small indels, multi-exon or complete STRC deletions, as well as gene conversions between the STRC gene and its pseudogene (STRCP1) which are located less than 100 kb from each other (Moteki et al. 2016; Vona et al. 2015).

CNVs are a common cause of nonsyndromic hearing loss, STRC CNVs are the most common followed by CNVs in OTOA and GJB6 (Shearer et al. 2014). Homozygous or compound heterozygous missense, splice site mutations or complete OTOA deletions cause autosomal recessive deafness 22 (DFNB22; OMIM # 607039). DFNB22 has a prelingual onset, and the degree of hearing loss has been reported as moderate to severe and severe to profound.

More information is available at:

DIS: https://www.omim.org/entry/611102; https://www.ncbi.nlm.nih.gov/books/NBK598310/;

Hereditary hearing loss and deafness: https://www.ncbi.nlm.nih.gov/books/NBK1434/;

DFNB16: https://www.omim.org/entry/603720;

DFNB22: https://www.omim.org/entry/607039.

Regulatory status

SALSA MLPA Probemix P461 STRC-CATSPER2-OTOA is CE-marked for in vitro diagnostic (IVD) use.

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

Product documentation

Version B1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P461-025R
SALSA MLPA Probemix P461 STRC-CATSPER2-OTOA – 25 rxn
MLPA
€ 281.00
P461-050R
SALSA MLPA Probemix P461 STRC-CATSPER2-OTOA – 50 rxn
MLPA
€ 550.00
P461-100R
SALSA MLPA Probemix P461 STRC-CATSPER2-OTOA – 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
How to Order

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.

See this support article for commercially available positive samples that have been tested with this product.

Resources

General resources

Learning

Publications

References

  • Moteki H et al. (2016). Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization. Ann Otol Rhinol Laryngol. 125:918-23.
  • Shearer AE et al. (2014). Copy number variants are a common cause of non-syndromic hearing loss. Genome Med. 6:37.
  • Vona B et al. (2015). DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics. Clin Genet. 87:49-55.
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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.