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Case Study:Medical Exome

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Medical Exome (MedExomSure) Testing helped to identify rare genetic disorder in baby  

The Baby of Payal (name changed) is 3 days old male, born to a consanguineous couple; he presented with hypotonia, cryptorchidism, dislocation of major joints, knee flexion and contractures. Radiology findings and other diagnostic tests were unable to give any conclusive answer to the baby's medical condition. Due to the ambiguity in diagnosis, the parents faced considerable psychosocial stress.

After a detailed discussion between the pediatrician and the genetic counselor of Eurofins Clinical Genetics India, it was recommended to proceed with the medical exome test which covers 17000 genes. Child’s peripheral blood sample was sent to Eurofins Clinical Genetics India for medical exome testing.  Analysis of child’s medical exome by Eurofins genome analysts and clinical scientists identified homozygous frameshift mutation in the PIEZO2 gene which is responsible for Arthrogryposis. Sanger sequencing for particular mutation in PIEZO2 gene in the child’s parents was recommended for segregation analysis. Sanger sequencing of the child's parents performed by Eurofins Scientists identified them to be the carriers for this mutation.

Later, the couple decided to have another child, but before that, they consulted the pediatrician to know about the recurrence of this disease in the next child.  Given a 25% risk of recurrence, the couple was counseled for prenatal testing which would help them make an informed decision. In the following pregnancy, Eurofins scientists performed prenatal testing by taking Chorionic villus sampling of the fetus and Sanger sequenced the specific mutation. Sanger sequencing didn’t detect the mutation in the fetus and the family happily continued the pregnancy. The medical exome test not only helped this family to arrive at the diagnosis for their child who was affected but also helped them to assess the recurrence in their next child. Counseling and molecular prenatal testing at the right time helped in identifying and preventing the recurrence of the same.

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