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The genetic report for Mr. Ronak Agarwal indicates no pathogenic variants related to his phenotype, but identifies a heterozygous pathogenic variant in the HBB gene associated with beta-thalassemia and an uncertain significance variant in the RUNX2 gene. A deletion on chromosome 17q12 affecting 20 genes is also noted as pathogenic. Recommendations include genetic counseling and further testing to confirm the presence of variants.

Author

khushiagarwal75683

Language

EN