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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), and autosomal recessive deafness 22 (DFNB22).

IVDR certified for in vitro diagnostic (IVD) use.

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MRC Holland has recently obtained the In Vitro Diagnostic Regulation (IVDR; EU 2017/746) certification for this product. The CE-IVDR version will be sold latest Q2 of 2026, and will be accompanied by changes in the intended purpose. The probes targeting STRC will be limited to the detection of deletions and gene conversions between STRC and its pseudogene STRCP1. In addition, the probes targeting CATSPER2 and OTOA will be limited to the detection of deletions. The composition of this product remains unchanged.

Intended purpose

The SALSA MLPA Probemix P461 STRC-CATSPER2-OTOA is an in vitro diagnostic (IVD) semi-quantitative manual assay to be used with genomic DNA isolated from human peripheral blood. The probemix is intended for the detection of deletions in the STRC gene, as well as gene conversions between STRC and its pseudogene STRCP1 to confirm a potential cause for and establish a clinical diagnosis of Autosomal recessive deafness 16 (DFNB16). Moreover, this assay can detect deletions of STRC and CATSPER2 genes, to confirm a potential cause for and establish a clinical diagnosis of STRC-related autosomal recessive hearing loss, including Deafness-infertility syndrome (DIS). Lastly, P461 STRC-CATSPER2-OTOA allows for the detection of deletions in the OTOA gene to confirm a potential cause for and establish a clinical diagnosis of Autosomal recessive deafness 22 (DFNB22). The probemix can also be used 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:

Regulatory status

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

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

Product documentation

Version B1

Other versions

Contact us for earlier versions.

Translations and Summary of Safety and Performance

Translations of the product description in selected European languages are available upon request. Please contact us or one of our local sales partners. Translations of the MLPA General Protocol in selected languages are available here.

The Summary of Safety and Performance (SSP) is also available upon request.

List prices

Product

Item no.
Description
Technology
Price
P461-025R
SALSA MLPA Probemix P461 STRC-CATSPER2-OTOA – 25 rxn
MLPA
€ 296.00
P461-050R
SALSA MLPA Probemix P461 STRC-CATSPER2-OTOA – 50 rxn
MLPA
€ 580.00
P461-100R
SALSA MLPA Probemix P461 STRC-CATSPER2-OTOA – 100 rxn
MLPA
€ 1135.00

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
€ 361.00
EK1-CY5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 361.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK5-CY5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6373.00

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 can be used with the current (B1) version of this product.

  • Coriell NA03184: Heterozygous duplication affecting the probes for PPIP5K1, CKMT1B, STRC, CATSPER2, CKMT1A, STRCP1 and PDIA3 on chromosome 15q.
  • Coriell NA08039: Heterozygous duplication affecting the probes for METTL9, OTOA and UQCRC2 on chromosome 16q.
  • Coriell NA13031: Heterozygous deletion affecting the probes for METTL9 and OTOA on chromosome 16q.
  • Coriell NA20317: Heterozygous duplication affecting the probes for STRC and CKMT1A on chromosome 15q. Heterozygous deletion affecting the probes for STRCP1 and CKMT1B on chromosome 15q.
  • Coriell NA20511: Heterozygous deletion affecting the probes for CKMT1B, STRC and CATSPER2 on chromosome 15q.

Resources

General MLPA resources

MLPA education

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.

CE2797

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.