Leber Hereditary Optic Neuropathy - Cancel and reorder as LSMISC - LG3836


Sunquest Code:LHON  
Epic Code:LAB3585Epic Name:Leber Hereditary Optic Neuropathy
Order Instructions:Cancel LHON and reorder as LSMISC.
Synonyms:LHON mDNA Evaluation
Methodology:Polymerase chain reaction/Restriction Fragment Length Polymorphism
CPT Code:81401
Turnaround Time:Specimens are sent to reference laboratory Mon-Fri; results are reported within 6-8 weeks.
Special Instructions:A signed informed consent in the patient's medical record is required; the consent should not be sent to the laboratory. The link to the Genetic Testing Consent Form is provided as a convenience for the providers and genetic counselors.
Associated Links:

Genetic Testing Consent Form



Collection Instructions

Specimen:Blood
Optimal Volume:8 mL (adult); 3 mL (pediatric)
Minimum\Peds Volume:6 mL (adult); 3 mL (pediatric)
Causes for Rejection:Frozen specimen; consent not provided; Genetic counselor will notify referring physician of any missing requirements.


Processing and Shipping

Specimen Processing:Whole blood. Do not centrifuge. Store at room temperature or refrigerated.
Shipping Instructions:Ship at room temperature.
Test Performed at or Referral Lab Lab Sendouts  (John and Marcia Carver Genetic Testing, University of Iowa)


Interpretive

Reference Range:No mutation detected.
Use:Detection of point mutations in mitochrondrial genes: a G to A at base pair 11778 in the ND4 gene; a T to C at base pair 14484 in the ND6 gene; a G to A at base pair 15257 in the CYT B gene; and a G to A at base pair 3460 in the ND1 gene.


Click HERE to Report test errors or omissions.
*If no email program is associated with this computer, please contact:
systemlabguide@fairview.org for TestID: 3836"