Pathology Handbook

Recent changes for LHON Mutation Analysis
Date	Field	Changed From	Changed To
13th November 2024	Alternative names		MT-ND1 m.3460G>A, MT-ND4 m.11778G>A, MT-ND6 m.14484T>C, Leber Hereditary Optic Neuropathy
	Volume (Adults)		4 mL
	Minimum/Paediatric Volume		3 mL
	Preferred Container Type	EDTA 10 mL	EDTA 10 mL EDTA 4 mL
	Collection & Request Instructions		If use 4mL EDTA tubes, use 2 tubes ie 2X 4mL EDTA

Alternative Names:

MT-ND1 m.3460G>A
MT-ND4 m.11778G>A
MT-ND6 m.14484T>C
Leber Hereditary Optic Neuropathy

Laboratory:

Human Molecular

Test Code:

MS LHON

Specimen Types:

Blood

Container Types:

EDTA 10 mL
EDTA 4 mL

Adults Volume or Mass:

4 mL

Minimum/Paediatric Volume or Mass:

3 mL

Collection & Request Instructions:

If use 4mL EDTA tubes, use 2 tubes ie 2X 4mL EDTA

Transport Instructions between Sites and/or Laboratories:

Room Temperature

At room temperature or 4C

External Laboratory:

St.Vincents-MAND laboratory

Additional Notes:

MAND = Mitochondrial and Autoimmune Neurological Disorders

Department of Clinical Neurosciences and Neurological Research.