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Test Code LHON Leber's Hereditary Optic Neuropathy (LHON)

Important Note

Completion of General Consent Form is required for this test. Please submit the completed form along with the sample request form.

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.