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

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

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

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