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Reece O Hubbard, a 20-year-old diagnosed with autism spectrum disorder, underwent genetic counseling where results indicated homozygous pathogenic variants in the HFE gene, increasing the risk for hereditary hemochromatosis, and a heterozygous variant in the RYR1 gene, indicating susceptibility to malignant hyperthermia. Recommendations include ongoing management for hemochromatosis and a follow-up genetic counseling appointment in two years for potential re-analysis of exome data. Reece

Author

embysgarage

Language

EN