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LHON Genetic Testing

LHON Genetic Testing. Speakers: Lissa Poincenot & Dr. Nancy Newman June 28, 2019. What LHON Genetic Tests Are There?. Single, Targeted Mutation Panel of LHON Mutations Mitochondrial Genome Sequencing. Targeted Mutation Testing. What: Tests for one specific mutation When Used:

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LHON Genetic Testing

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  1. LHON Genetic Testing Speakers: Lissa Poincenot & Dr. Nancy Newman June 28, 2019

  2. What LHON Genetic Tests Are There? • Single, Targeted Mutation • Panel of LHON Mutations • Mitochondrial Genome Sequencing

  3. Targeted Mutation Testing • What: • Tests for one specific mutation • When Used: • To confirm a maternal relative • To quickly determine if eligible for a clinical trial • Benefits: • Lowest cost • Fastest turnaround • Drawbacks: • Additional testing required if results are not positive to achieve a diagnosis

  4. Panel of Mutations • What: • Tests for the most common LHON mutations • When Used: • To confirm a clinical diagnosis of LHON, when no specific mutation in the family is known • Benefits: • Commonly used; doctors are familiar with it • Drawbacks: • Additional testing may be required to achieve a diagnosis if results are negative

  5. Example-Panel Test: Positive

  6. Example-Panel Test: Negative

  7. Mitochondrial Genome Sequencing • What: • Tests the entire mitochondrial genome • When Used: • To confirm a clinical diagnosis of LHON • Benefits: • Identifies common and rare mutations • Drawbacks: • Could identify non-LHON variants • Could be more expensive than a panel test, though costs have declined

  8. Homoplasmy and Heteroplasmy

  9. Homoplasmy Report Example

  10. Evaluate Lab Options • Cost • Your insurance • The lab’s Financial Assistance options • Time • Turnaround times vary widely • How is the Sample Obtained? • FedEx’d kit for buccal swab • Blood draw • Does the lab report Heteroplasmy level?

  11. Athena Diagnostics • Panel (11778, 14484, 3460) • Blood draw • 2-3 week turnaround • Athena Alliance Program (financial assistance)

  12. Carver Lab • Panel (11778, 14484, 3460) • Blood draw • 6-8 week turnaround • $140(a non-profit lab)

  13. EGL Genetics • Mitochondrial Genome Sequencing • Blood draw • 8-week turnaround

  14. Gene Dx • Blood draw or Buccal swab • No-interest, no-fee payment plans; Self payoption • Target Variant Test • 2-3 week turnaround • Panel with Common and Rare LHON mutations • 3-4 week turnaround • Mitochondrial Genome Sequencing • 4-week turnaround

  15. MNG • Target Variant / Known Familial Variant Test • Blood draw or Buccal swab • 2-4 week turnaround • Mitochondrial Genome Sequencing • Blood draw or Buccal swab • 2-4 week turnaround

  16. Who Can Order the Test? • Neuro-ophthalmologist/Ophthalmologist • Primary Care Physician • Genetic Counselor

  17. LHON Genetic Testing Speakers: Lissa Poincenot & Dr. Nancy Newman June 28, 2019

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