Collect

Whole blood
One 5.0 mL Lavender Top Tube, Blood or ACD (yellow top tube).


.

Specimen Preparation

Do not spin.  Test requires whole blood.

Storage/Transport Temperature

Whole blood: Room temperature
 

Stability (from collection to initiation)

Whole blood: Room temperature: 8 days, Refrigerated: 8 days, Frozen: 1 month
 

Performed

Testing performed at Prevention Genetics.  Refer to reference lab website for testing schedule.

Ordering Recommendations

LHON, a maternally-inherited disorder, is caused by pathogenic variants in the mitochondrial genome, with three specific missense variants accounting for ~90% of cases worldwide (Mackey et al. 1996. PubMed ID: 8755941; Yu-Wai-Man and Chinnery. 2021. PubMed ID: 20301353): MT-ND1 m.3460G>A (p.Ala52Thr), MT-ND4 m.11778G>A (p.Arg340His), and MT-ND6 m.14484T>C (p.Met64Val). These three variants are located in three different genes that encode for subunits of the mitochondrial complex I (Kirches et al. 2011. PubMed ID: 21886454).

Performed

Testing performed at Prevention Genetics.  Refer to reference lab website for testing schedule.

Methodology

Senger Sequencing - LHON Targeted Mitochondrial Variants

Reported

4 weeks on average

Section

Referrals

Medicare Regulated Tests

No

Reference Lab Notes

Emory patients and providers only.
Order on ARUP Connect for Prevention Genetics test name:  Leber Hereditary Optic Neuropathy (LHON) - Targeted Testing for 3 Common Pathogenic Variants / test code 15667

 

Reference Interval

No mutations detected

CPT Codes

MOLDX® RECOMMENDED CPT® CODE:  81401
Prevention Genetics Gene CPT Codes: 81401x 2, 81479
Prevention Genetics Panel CPT Code: 81479
 
Collection

Collect

Whole blood
One 5.0 mL Lavender Top Tube, Blood or ACD (yellow top tube).


.

Specimen Preparation

Do not spin.  Test requires whole blood.

Storage/Transport Temperature

Whole blood: Room temperature
 

Stability (from collection to initiation)

Whole blood: Room temperature: 8 days, Refrigerated: 8 days, Frozen: 1 month
 

Performed

Testing performed at Prevention Genetics.  Refer to reference lab website for testing schedule.
Ordering

Ordering Recommendations

LHON, a maternally-inherited disorder, is caused by pathogenic variants in the mitochondrial genome, with three specific missense variants accounting for ~90% of cases worldwide (Mackey et al. 1996. PubMed ID: 8755941; Yu-Wai-Man and Chinnery. 2021. PubMed ID: 20301353): MT-ND1 m.3460G>A (p.Ala52Thr), MT-ND4 m.11778G>A (p.Arg340His), and MT-ND6 m.14484T>C (p.Met64Val). These three variants are located in three different genes that encode for subunits of the mitochondrial complex I (Kirches et al. 2011. PubMed ID: 21886454).

Performed

Testing performed at Prevention Genetics.  Refer to reference lab website for testing schedule.

Methodology

Senger Sequencing - LHON Targeted Mitochondrial Variants

Reported

4 weeks on average

Section

Referrals

Medicare Regulated Tests

No

Reference Lab Notes

Emory patients and providers only.
Order on ARUP Connect for Prevention Genetics test name:  Leber Hereditary Optic Neuropathy (LHON) - Targeted Testing for 3 Common Pathogenic Variants / test code 15667

 

Result Interpretation

Reference Interval

No mutations detected
Administrative

CPT Codes

MOLDX® RECOMMENDED CPT® CODE:  81401
Prevention Genetics Gene CPT Codes: 81401x 2, 81479
Prevention Genetics Panel CPT Code: 81479
 

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