QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletions

Eszter Jávorszky, Vincent Morinière, Andrea Kerti, Eszter Balogh, Henriett Pikó, Sophie Saunier, Veronika Karcagi, Corinne Antignac, Kálmán Tory
  • Clinical Chemistry and Laboratory Medicine (CCLM), June 2017, De Gruyter
  • DOI: 10.1515/cclm-2016-0819

Detection of NPHP1 heterozygous deletion by QMPSF

What is it about?

The cost- and time-effective method of QMPSF – as validated by MLPA – is perfectly sensitive and specific in the diagnosis of NPHP1 heterozygous (or homozygous) deletion. It is crucially important to perform segregation analysis in clinical practice as – in contrast the vast majority of the mutation in autosomal recessive disorders – the NPHP1 deletion is not a founder mutation but results from frequent de novo events.

Why is it important?

This QMPSF method can definitely simplify the genetic evaluation of NPHP1 deletions.

Perspectives

Eszter Jávorszky

I think that this manuscript provides important data for the genetic diagnosis and counselling of NPHP1 deletion.

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http://dx.doi.org/10.1515/cclm-2016-0819

The following have contributed to this page: Eszter Jávorszky

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