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Test Code LHON Leber Hereditary Optic Neuropathy (aka LHON)

Clinical Indications

N/a

Additional Test Codes

Epic Order Name: LEBER HEREDITARY OPTIC NEUROPATHY (aka LHON)
Sunquest Order Code: LHON
Epic Px Code: LAB3030

Specimen Collection Type

EDTA whole blood

Minimum Collection Volume

1 mL

Reference Range

Negative for common mitochondrial DNA variants associated with LHON.

Critical Value

N/A

Interpretation

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

Rejection Criteria

Specimens other than EDTA whole blood stored ambient or refrigerated, specimens more than 3 days old.

Specimen Availability for Add-on Testing

Not available for add on testing.

Specimen Stability

Ambient: 3 days
Refrigerated: 3 days
Frozen: Unacceptable

Performing Lab - Department

TUKHS-BH-Mail Outs

CPT Code

81401

LOINC Code

N/A

Test Alias

N/A

Additional Information / Notes

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