LHON Genetic Testing Speakers Lissa Poincenot Dr Nancy

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

Example-Panel Test: Positive

Example-Panel Test: 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

Homoplasmy and Heteroplasmy

Homoplasmy Report Example

Evaluate Lab Options • Cost • Your insurance • The lab’s Financial Assistance options • Time • Turnaround times vary widely • How is the Sample Obtained? • Fed. Ex’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 pay option • 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