Many of these disorders have an underlying genetic basis that can be diagnosed using Clinical Next Generation Sequencing. Sengenics GenoMAX and ExoMAX services are the first in the world that integrate genotype frequency information from the GalaxC database of Middle-Eastern and Asian disease mutations.
Genome vs Exome
GenoMAX – WHOLE GENOME
• Guarantees 100% coverage of all exons
• Uniform coverage of the genome
• Complete coverage of entire genes
• Detect all deletions and amplifications
ExoMAX – WHOLE EXOME
• Exon coverage not 100%
• Non-uniform coverage
• Small deletions & amplifications missed
• No coverage in introns or UTRs
Who should get tested?
1) Couples who are first cousins or close relatives
2) Couples who already have a child with a genetic disorder
3) Women who have a baby after the age of 35
4) Women who have had multiple miscarriages
5) Individuals with a family history of a genetic disorder
What can we offer?
The frequency of autosomal recessive, autosomal dominant and X-linked disorders in Middle-Eastern and Asian populations is much higher than in Western countries. This is due to the higher incidence of inbreeding and consanguineous marriages.