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.
The following have contributed to this page: Eszter Jávorszky
In partnership with: