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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 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: • 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
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
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
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?
Athena Diagnostics • Panel (11778, 14484, 3460) • Blood draw • 2-3 week turnaround • Athena Alliance Program (financial assistance)
Carver Lab • Panel (11778, 14484, 3460) • Blood draw • 6-8 week turnaround • $140(a non-profit lab)
EGL Genetics • Mitochondrial Genome Sequencing • Blood draw • 8-week turnaround
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
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
Who Can Order the Test? • Neuro-ophthalmologist/Ophthalmologist • Primary Care Physician • Genetic Counselor
LHON Genetic Testing Speakers: Lissa Poincenot & Dr. Nancy Newman June 28, 2019