Can I read Final Report STRAN 2025 82065 Whole Exome Extended TAT on EtoBox?
Final Report STRAN 2025 82065 Whole Exome Extended TAT by Rajen Mondal is a document available to read on EtoBox.
What is Final Report STRAN 2025 82065 Whole Exome Extended TAT about?
The report details a Whole Exome Test conducted on a 1-year-old female patient, Ritika Ruidas, who has a history of recurrent acute respiratory infections and cyclical neutropenia syndrome. A heterozygous variant of uncertain significance (VUS) was identified in the SAMD9 gene, but no significant disease-causing variants were detected. Recommendations include genetic counseling, confirmation of the variant, and potential reanalysis of the data annually.
- Author
- Rajen Mondal
- Language
- EN