Leber Hereditary Optic Neuropathy - Cancel and reorder as LSMISC - LG3836
| Sunquest Code: | LHON | ||
| Epic Code: | LAB3585 | Epic 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: | |||
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. |
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