Inherited Disease Panel

When it comes to diagnosis of inherited diseases in newborns, speed and accuracy make all the difference. Thanks to our Inherited Disease Panel, the diagnose may be faster and more effective than it was ever before.

Inherited disease presentations are often undifferentiated at birth what causes difficulties in diagnosis and sometimes neonatal mortality. Clinical testing is available  only for some of inherited diseases  Therefore, there is a great need to provide improved molecular diagnosis in infants.. The progress of the disease is very rapid and specific for each of the cases, because of which diagnosis must be adequate and given as early as posible,  

That is why the DNA Research Center has introduced a multi-gene test that will help to diagnose inherited diseases using next generation DNA sequencing. The DNA Research Centeris a world-class research facility that will revolutionize diagnostic of inherited diseases in one assay. Our Inherited Disease Panel targets  over 8 800 exons, spanning 552 genes of interest linked specifically to a wide spectrum of inherited diseases. It includes coding exons, intron-exon boundaries and regions known to harbor pathogenic mutations.

Inherited Disease Panel consists of a 448 disease panels designed for preconception carrier testing for severe, recessive -pediatric diseases published by Dr. Kingsmore and team in Science Translational Medicine¹, ultra-rate diseases revised by Dr. Saunders, FACMG, at CMH (following ACMG guidelines for testing ultra-rare genetic diseases) and intellectual disability genes.

Statistics

Taken individually, Mendelian recessive disorders appear to be uncommon, but when reviewed as a group, these diseases appear within a significant portion of the population. In fact, Mendelian diseases collectively account for ~20% of infant mortalities and ~18% of pediatric hospitalizations². Molecular tests are currently available for a little over 25% of these disorders, contributing to a decline of their appearance. To continue this trend, it is imperative to research screening methods for other recessive inherited disorders. Many of the severe, recessive, pediatric-onset Mendelian disorders are due to pathogenic mutations found in coding exons and intron-exon boundaries.

Application

A newly developed test could also screen would-be parents for hundreds of different disease genes, to make sure they are not passed on to any future children. This test is relevant to everyone  considering having a child.

Already, a couple of companies offer a routine preconception screening test for couples. But these currently available tests screen for far fewer diseases and can detect only known mutations — and for many rare disorders, the mutations are yet not described . That is why, sequencing of parents or affected siblings will expedite the identification of disease genes in prospective cases. Thus, rapid Inherited Disease Panel offered by the DNA Research Center can potentially broaden and foreshorten differential diagnosis, resulting in fewer empirical treatments and faster progression to genetic and prognostic counseling.

Genes captured:

References:

1. Saunders CJ, Miller NA, Soden SE, Dinwiddie DL, Noll A, et al. (2012) Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Sci Transl Med. 4: 154ra135.  

2. Kingsmore S. (2012): Comprehensive Carrier Screening and Molecular Diagnostic Testing for Recessive Childhood Diseases. PLOS Curr. 10.1371/4f9877ab8ffa9