Diagnosed Genetic Mutations:

Gene A Rations provides guidance and referrals for people struggling with known genetic mutations , and to newly identified mutations to appropriate diagnostic labs, genetic counselors,  to preform :

  • Carrier status screening
  • Reproductive genetics
  • Pediatric genetics
  • Disease susceptibility screening
  • Cancer genetics
  • Pre-implantation genetic testing
  • Chorionic villus sampling (CVS) and other prenatal testing

Undiagnosed Rare Disease Program:

For families affected by undiagnosed genetic diseases, we offer a range of services to help identify the underlying cause of the illness, medically characterize the disease, and test various genetic approaches to determine a way to move forward with the conception of a healthy baby. The technologies we use include:

  • Sanger sequencing
  • Real-time PCR (qPCR)
  • Exome and genome sequencing
  • RNA-seq
  • SNP microarrays