Laboratory Test Information Guide

Details for Leber's Hereditary Optic Neuropathy

Test Name: Leber's Hereditary Optic Neuropathy
Alternate Name(s): LHON
Laboratory: Molecular Diagnostics
Specimen Type: Whole blood-2 x 4 mL Lavender EDTA top Vacutainer tube
Collection Information: Blood samples must be maintained at room temperature.
Test Schedule: As Required
Monday - Friday
0800 - 1600 h
Turnaround time from when specimen
is received in testing laboratory:
6 weeks
Reference Range: See report
Effective Date:  
Revised Date: 2021-05-14
Critical Value: N/A
Interpretive Comments: Please note that these samples will be subjected to direct mutational analysis which may not account for all cases of the disease diagnosed.

Further information will be supplied with the test result.

Lebers hereditary optic neuropathy (LHON), is a maternally inherited disease resulting in optic nerve degeneration and cardiac dysrhythmia1. Three mitochondrial DNA point mutations (nt.#3460G>A, nt.#11778G>A and nt.#14484T>C) in the gene coding for subunits ND#1, ND#4 and ND#6 respectively of NADH-CoQ oxidoreductase, are thought to account for the greatest proportion (60-80%) of Leber's cases 1,2,3,4. Further, less common mutations associated with LHON can be found in segments of the mitochondrial genome coding for both cyt b and the subunits ND#1,#2,#5, and #63,4. The decision as to whether other mutations should be screened if the 3460, 11778 and 14484 mutations are absent is dependent on the clinical situation.


1. Wallace et al. Science (1988) 242:1427-1430.
2. Newman et al. Am. J. Opthalmol. (1991) III:750-762
3. Wallace et al. Science (1992) 256:628-632
4. Shoffner et al. Am. J. Hum. Genet. (1992) 51:1179-1186
Special Processing:  
Comments: For more information click on:
Molecular Diagnostic Laboratory
Method of Analysis: PCR and restriction digest
Critical Information Required: Pedigree required.
Storage & Shipment: Must be received within 5 days of collection, shipped at room temperature by courier/overnight delivery.
System Codes: 
Referred To:  

Questions? Comments? Contact Laura Gopaul