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Leber Hereditary Optic Neuropathy (LHON)

Collection Requirements

Source: blood
Container: EDTA lavender
Volume:

  • Preferred: 3 mL in vacutainer
  • Minimum: 1 mL in vacutainer

Turn Around Time

14 days

Availability

Routine

Lab Processing Instructions

Specimen: whole blood
Room temperature or refrigerate

Performing Laboratory

Adele Hall

Adele Hall Lab Section

Molecular Genetics

Instrumentation/Methodology

PCR amplification of the mitochondrial ND1, ND4, and ND6 genes followed by Sanger sequencing with alignment to the reference mitochondrial genome sequence (GRCh37)

Additional Information

Leber Hereditary Optic Neuropathy (LHON) is a mitochondrially-inherited degenerative disease characterized by bilateral, painless, subacute visual failure that develops during young adult life.

Reference Ranges

See interpretive report

CPT

81401