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.
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Why is it important?
This QMPSF method can definitely simplify the genetic evaluation of NPHP1 deletions.
Perspectives
I think that this manuscript provides important data for the genetic diagnosis and counselling of NPHP1 deletion.
Eszter Jávorszky
Read the Original
This page is a summary of: QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletions, Clinical Chemistry and Laboratory Medicine (CCLM), June 2017, De Gruyter,
DOI: 10.1515/cclm-2016-0819.
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