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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.

Specimen Requirements

Specimen Type: Whole blood
Container/Tube: Lavender top (EDTA)
Specimen Volume: 3mL

Days and Times Performed

Bimonthly, TAT 21 working days.

Methodology

Polymerase Chain Reaction, DNA Sequencing

Service Code

1035056

Update

Last updated 25/02/2020

Specimen Stability

7 days, ambient or refrigerated

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).

Reference

An interpretative report will be provided.