Mendelian diseases, also known as monogenic diseases, represent a class of disorders associated with genetic variation in one gene. Their inheritance follows classic Mendelian laws, and the phenotype could be expressed in either a dominant or recessive way. Currently, over three thousands genes have been associated with Mendelian diseases including cystic fibrosis, cancer predisposition, epilepsy, and deafness among others.

From the discovery of the linkage between genetic variations and inherited diseases, scientists and clinicians have striven to identify them in routine ways to confirm diagnosis, provide better genetic counselling, and select proper treatment. Originally, Sanger sequencing was used, but advances in next-generation sequencing (NGS) have offered excellent improvement to the speed and efficiency for molecular diagnostic of monogenic diseases. There are three different qualitative and quantitative NGS approaches for the screening of genetic variations: whole genome sequencing (WGS), whole exome sequencing (WES) and comprehensive gene panel sequencing.  Each of these methods has distinctive advantages and disadvantages which define their applications in research and diagnostics of monogenic diseases. WGS and WES are expensive, laborious, and lack complete and deep coverage of target(s) of interest. However, these methods provide the most complex information. On the other hand, when phenotype or family history of the patient is known, the using of comprehensive gene panels targeting only selected genes is the most economical and straightforward solution.

Comprehensive gene panels composed of candidate disease genes provide complete and deep coverage of a target region in a quick, simple assay suitable for both research and diagnostic laboratory settings.

Bioo Scientific introduced the first in a series of comprehensive panels for Mendelian diseases by launching the NEXTflex™ BRCA1 & BRCA2 Amplicon Panel for identification of variations in BRCA1 and BRCA2 breast cancer predisposition genes. This quick and easy-to-perform panel with 100% coverage and uniformity will be followed by a series of twenty other panels for detection of variations associated with the most common inherited clinical conditions.

 

Jamuar SS, Tan EC. 2015 Clinical application of next-generation sequencing for Mendelian diseases. Hum Genomics.

Saudi Mendeliome Group. Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases. 2015. Genome Biology 16:134

Easton, D. F. 2015. Gene-Panel sequencing and the prediction of breast-cancer risk. 2015. N. Engl. J. Med. 372: 372:23