Test Code LHON Leber's Hereditary Optic Neuropathy (LHON)
Laboratory Code
LAB3040467
Specimen Requirements
Specimen Type: Whole Blood
Container/Tube: Lavender Top (EDTA)
Specimen Volume: 3.0 mL
Specimen Stability
7 days, ambient or refrigerated
Methodology
Polymerase Chain Reaction, DNA Sequencing
Days and Times Performed
TAT 25 days
Reference Interval
An interpretative report will be provided.
Testing Laboratory
National University Hospital
Molecular Diagnosis Centre, 67724384
Useful For
For detection of the three commonest point mutations in the ND1, ND4 and ND6 genes of the mitochondria DNA that cause Leber’s Hereditary Optic Neuropathy (LHON).
Service Code
1035056
Update
Last updated 20/03/2025
Test Info
(a) This test was developed by NUH Laboratory Medicine.
(b) This laboratory test has undergone in-house evaluation with appropriate quality assurance and control measures in line with laboratory best practice and accreditation requirements.