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Understanding LHON Genetic Testing: Options, Benefits, and Drawbacks

Learn about LHON genetic testing options including targeted mutation, panel of mutations, and mitochondrial genome sequencing. Discover the benefits, drawbacks, and examples of positive and negative results for each test type.

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Understanding LHON Genetic Testing: Options, Benefits, and Drawbacks

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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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