Clinical Application 1.0

Brief examples of some of the clinical applications of RNA Sequencing

1. Next Generation Sequencing Clinical Examples 1.0 In this tutorial we’re going to briefly go through some of the Clinical applications of Next Generation Sequencing and how it can be useful in determining inheritance patterns, distinguishing diagnosis between patients, and assessing the risks of an illness reoccurring.

2. Next Generation Sequencing can be used in a variety of places ranging from the clinical setting to a laboratory setting.

3. Clinical Example So in this first clinical example is one of [Read Slide]. In this case the 2 brothers have a healthy brother and sister are wondering what the risk is of their own children inheriting the disability. NGS, specifically Exome Sequencing, was used to determine risk of recurrence in the family 22 and 24 year old brothers: Intellectual Disability Severe self-injurious behaviors, autistic features Spastic Diplegia

4. Their molecular, cytogenetic, and biochemical conditions were tested and were concluded to be normal . Molecular/Cytogenetic: Karyotype Fragile X SNP Chromosome Microarray Mitochondrial DNA Sequencing XLMR Panels (>90 genes) Biochemical: Amino acids, organic acids Lactate, pyruvate Lysosomal enzyme panel 7-Dehydrocholesterol Very long fatty acids All Results Normal

5. Exome Sequence Results

6. Results of Diagnosis Clinicians were able to: D etermine the inheritance pattern of the disorder Autosomal recessive trait, not an X-linked trait Determine risk of recurring in healthy siblings Sister carries the genes, Healthy brother does not. So it is possible that there could be a recurrence in the family.

7. Works Cited