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Optic Atrophy and Neuropathy Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
ACO2 81479,81479
AFG3L2 81479,81479
ALPK1 81479,81479
ATG7 81479,81479
ATP1A3 81479,81479
AUH 81479,81479
C19orf12 81479,81479
CISD2 81479,81479
DNAJC19 81479,81479
DNAJC30 81479,81479
DNM1L 81479,81479
EPRS1 81479,81479
FDX2 81479,81479
FDXR 81479,81479
HSD17B10 81479,81479
ISCA2 81479,81479
KLC2 81479,81479
LETM1 81479,81479
LHX2 81479,81479
MAG 81479,81479
MCAT 81479,81479
MECR 81479,81479
MFF 81479,81479
MFN2 81406,81479
MGME1 81479,81479
MTFMT 81479,81479
MTO1 81479,81479
MTPAP 81479,81479
MTRFR 81479,81479
NARS2 81479,81479
NBAS 81479,81479
NDUFA12 81479,81479
NDUFAF3 81479,81479
NDUFAF5 81479,81479
NDUFS1 81406,81479
NDUFS2 81479,81479
NR2F1 81479,81479
OPA1 81407,81406
OPA3 81479,81479
PDHX 81406,81479
PDSS1 81479,81479
PDXK 81479,81479
POLG 81406,81479
POLG2 81479,81479
RNASEH1 81479,81479
RRM2B 81405,81479
RTN4IP1 81479,81479
SLC19A2 81479,81479
SLC19A3 81479,81479
SLC25A46 81479,81479
SLC44A1 81479,81479
SLC52A2 81479,81479
SPG7 81406,81405
SSBP1 81479,81479
SUCLA2 81479,81479
TACO1 81404,81479
TFG 81479,81479
TIMM8A 81479,81479
TK2 81405,81479
TMEM126A 81479,81479
TSFM 81479,81479
TWNK 81404,81479
TYMP 81405,81479
UCHL1 81479,81479
VARS2 81479,81479
WFS1 81479,81479
YME1L1 81479,81479
ZNHIT3 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10331Genes x (68)81479 81404(x2), 81405(x4), 81406(x6), 81407(x1), 81479(x123) $990 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our Custom Panel tool.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.


Genetic Counselors


  • Dana Talsness, PhD

Clinical Features and Genetics

Clinical Features

Optic Atrophy (OA) is the most prevalent inherited optic neuropathy besides Leber’s hereditary optic neuropathy (LHON). Both share a common pathological hallmark, the preferential loss of retinal ganglion cells (RGCs) (Carelli et al. 2009; Yu-Wai-Man et al. 2010). OA is clinically characterized by bilateral reduction in visual acuity that progresses insidiously from early childhood onwards (Yu-Wai-Man et al. 2011). Other symptoms include central or near central scotomas, tritanopia, variable degree of ptosis, central visual field defects and/or ophthalmalgia and optic nerve pallor. The most common OA is inherited in an autosomal dominant mode (DOA). Phenotype-genotype studies found that 20% of DOA patients develop a more severe phenotype called “DOA plus” (DOA+), which is characterized by extraocular multi-systemic features, including neurosensory hearing loss, or less commonly chronic progressive external ophthalmoplegia, myopathy, peripheral neuropathy, multiple sclerosis-like illness, spastic paraplegia or cataracts (Yu-Wai-Man et al. 2010; Amati-Bonneau et al. 2009). Disease prevalence is estimated as ~1/30,000 in most populations in the world, but in Denmark it can reach to 1/10,000 due to a founder effect (Kjer et al. 1996; Thiselton et al. 2001; Lenaers et al. 2012).


Although heterogeneous, the majority of suspected hereditary optic neuropathy patients (>60%) harbor pathogenic variants within OPA1, and ~3% have OPA3 pathogenic variants (Ferre et al. 2009). Optic nerve degeneration or optic atrophy is present in many disorders where mitochondrial impairment is the underlying cause for the RGC pathophysiology (Yu-Wai-Man et al. 2011). Examples are Wolfram’s syndrome, Mohr-Tranebjaerg syndrome or other neuropathies associated with neurological diseases such as spinocerebellar ataxias, Friedreich’s syndrome, Charcot Marie-Tooth type 2 and 6, Deafness-Dystonia-Optic Neuropathy syndromes etc. (Lenaers et al. 2012).

Causative variants in NR2F1 (Bosch et al. 2014) and OPA1 are inherited in an autosomal dominant (AD) manner. Causative variants in AUH (Wortmann et al. 2010), C12orf65 (Tucci et al. 2014), NDUFS1 (Martín et al. 2005), TMEM126A (Hanein et al. 2009), ACO2 (Spiegel et al. 2012) and MTPAP (Crosby et al. 2010) are inherited in an autosomal recessive (AR) manner, whereas pathogenic variants in TIMM8A (DDP) (Tranebjaerg et al. 2000) are inherited in X-linked manner. Causative variants in CISD2 (WFS2) (Amr et al. 2007), MFN2 (Rouzier et al. 2012), OPA3 (Yu-Wai-Man et al. 2011) POLG (Milone et al. 2011) and SPG7 (Klebe et al. 2012) have been shown to cause AD and AR phenotypes. Causative variants in WFS1 are implicated in autosomal recessive WS (Rendtorff et al. 2011) and autosomal dominant low frequency sensorineural hearing impairment. However, a few cases of autosomal dominant WFS1 - associated WS also had been reported (Eiberg et al. 2006; Valéro et al. 2008).

See individual gene test descriptions for information on molecular biology of gene products.

Clinical Sensitivity - Sequencing with CNV PGxome

In a molecular screening of 980 cases of suspected hereditary optic neuropathy, molecular defects were identified in 440. Among these 440 patients, 295 (67%) had OPA1 pathogenic variants, 131 (30%) had mtDNA pathogenic variants, and 14 patients (3%) had OPA3 pathogenic variants (Ferre et al. 2009). In another study done with ADOA patients, 75% of the patients had OPA1 pathogenic variants, whereas 1% of patients had OPA3 pathogenic variants (Lenaers et al. 2012). Clinical sensitivity for other genes is currently unknown.

AUH, MFN2, NDUFS1, NR2F1, OPA1, POLG, SPG7, WFS1 and TIMM8A have been reported to have large pathogenic deletions or insertions (Human Gene Mutation Database).

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel typically provides 99.3% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Patients with symptoms suggestive of inherited optic neuropathy are candidates.


Name Inheritance OMIM ID
2-Methyl-3-Hydroxybutyric Aciduria XL 300438
3-Methylglutaconic Aciduria AR 250950
3-Methylglutaconic Aciduria Type V AR 610198
Alternating Hemiplegia of Childhood 2 AD 614820
Auditory neuropathy and optic atrophy AR 617717
Basal Ganglia Disease, Biotin-Responsive AR 607483
Bosch-Boonstra-Schaaf optic atrophy syndrome AD 615722
Brown-Vialetto-Van Laere syndrome 2 AR 614707
CAPOS syndrome AD 601338
Cataract 41 AD 116400
Charcot-Marie-Tooth Disease, Type 2A2 AD,AR 609260
Coenzyme Q10 Deficiency, Primary, 2 AR 614651
Combined Oxidative Phosphorylation Deficiency 10 AR 614702
Combined Oxidative Phosphorylation Deficiency 15 AR 614947
Combined Oxidative Phosphorylation Deficiency 20 AR 615917
Combined Oxidative Phosphorylation Deficiency 24 AR 616239
Combined Oxidative Phosphorylation Deficiency 3 AR 610505
Combined Oxidative Phosphorylation Deficiency 7 AR 613559
Deafness, Autosomal Dominant 6 AD 600965
Deafness, autosomal recessive 94 AR 618434
Developmental and epileptic encephalopathy 99 AD 619606
Diabetes Mellitus And Insipidus With Optic Atrophy And Deafness AR 222300
Diabetes Mellitus, Noninsulin-Dependent AD 125853
Dominant Hereditary Optic Atrophy AD 165500
Dystonia 12 AD 128235
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities AR 617282
Encephalopathy due to defective mitochondrial and peroxisomal fission 2 AR 617086
Encephalopathy, Lethal, Due To Defective Mitochondrial And Peroxisomal Fission AR 614388
Infantile cerebellar-retinal degeneration AR 614559
Infantile Liver Failure Syndrome 2 AR 616483
Jensen Syndrome XL 311150
Leber-like hereditary optic neuropathy, autosomal recessive 1 AR 619382
Leber-like hereditary optic neuropathy, autosomal recessive 2 AR 620569
Leukodystrophy, hypomyelinating, 15 AR 617951
Mitochondrial Complex I Deficiency AR 252010
Mitochondrial complex I deficiency, nuclear type 16 AR 618238
Mitochondrial complex I deficiency, nuclear type 18 AR 618240
Mitochondrial complex I deficiency, nuclear type 23 AR 618244
Mitochondrial complex I deficiency, nuclear type 27 AR 618248
Mitochondrial complex I deficiency, nuclear type 6 AR 618228
Mitochondrial complex IV deficiency, nuclear type 8 AR 619052
Mitochondrial DNA depletion syndrome 11 AR 615084
Mitochondrial DNA depletion syndrome 16 (hepatic type) AR 618528
Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type) AR 619425
Mitochondrial DNA Depletion Syndrome 2 (Myopathic Type) AR 609560
Mitochondrial DNA Depletion Syndrome 5 (Encephalomyopathic with or without Methylmalonic Aciduria) AR 612073
Mitochondrial DNA Depletion Syndrome 7 AR 271245
Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, With Renal Tubulopathy AR 612075
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy AR 251900
Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome AR 603041
Mohr-Tranebjaerg Syndrome XL 304700
Multiple Mitochondrial Dysfunctions Syndrome 4 AR 616370
Neurodegeneration With Brain Iron Accumulation 4 AR 614298
Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline AR 618868
Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction AR 620089
Neuropathy, Hereditary Motor and Sensory, Okinawa Type AD 604484
Neuropathy, Hereditary Motor and Sensory, Type VIA AD 601152
Neuropathy, Hereditary Motor and Sensory, Type VIB AR 616505
Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy AR 618511
Optic Atrophy 10 with or without Ataxia, Mental Retardation, and Seizures AR 616732
Optic atrophy 11 AR 617302
Optic atrophy 12 AD 618977
Optic atrophy 13 with retinal and foveal abnormalities AD 165510
Optic atrophy 15 AR 620583
Optic atrophy 16 AR 620629
Optic atrophy 5 AD 610708
Optic Atrophy 7 AR 612989
Optic Atrophy And Cataract, Autosomal Dominant AD 165300
Optic Atrophy Type 1 AD 125250
Parkinson Disease 5 AD 613643
PEHO syndrome AR 260565
Perrault Syndrome 5 AR 616138
Pontocerebellar hypoplasia, type 1E AR 619303
Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Dominant, 3 AD 609286
Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Dominant, 4 AD 610131
Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Dominant, 5 AD 613077
Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Recessive AR 258450
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 2 AR 616479
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 AR 617069
Progressive Sclerosing Poliodystrophy AR 203700
Pyruvate Dehydrogenase E3-Binding Protein Deficiency AR 245349
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction AR 268315
ROSAH syndrome AD 614979
Short stature, Optic nerve atrophy, and Pelger-Huet anomaly AR 614800
Spastic Ataxia 4, Autosomal Recessive AR 613672
Spastic ataxia 5, autosomal recessive AR 614487
Spastic Paraplegia 43 AR 615043
Spastic Paraplegia 57 AR 615658
Spastic Paraplegia 7 AD,AR 607259
Spastic Paraplegia 75 AR 616680
Spastic Paraplegia 79 AR 615491
Spastic paraplegia 79A, autosomal dominant AD 620221
Spastic paraplegia, optic atrophy, and neuropathy AR 609541
Spinocerebellar Ataxia 28 AD 610246
Spinocerebellar ataxia, autosomal recessive 31 AR 619422
Thiamine Responsive Megaloblastic Anemia Syndrome AR 249270
Wolfram Syndrome 2 AR 604928
Wolfram-Like Syndrome, Autosomal Dominant AD 614296

Related Test



  • Amati-Bonneau P. et al. 2009. The International Journal of Biochemistry & Cell Biology. 41: 1855-65. PubMed ID: 19389487
  • Amr S. et al. 2007. American Journal of Human Genetics. 81: 673-83. PubMed ID: 17846994
  • Bosch DG. et al. 2014. American Journal of Human Genetics. 94: 303-9. PubMed ID: 24462372
  • Carelli V. et al. 2009. Biochimica Et Biophysica Acta. 1787: 518-28. PubMed ID: 19268652
  • Crosby A.H. et al. 2010. American Journal of Human Genetics. 87: 655-60. PubMed ID: 20970105
  • Eiberg H. et al. 2006. Journal of Medical Genetics. 43: 435-40. PubMed ID: 16648378
  • Ferré M. et al. 2009. Human Mutation. 30: E692-705. PubMed ID: 19319978
  • Hanein S. et al. 2009. American Journal of Human Genetics. 84: 493-8. PubMed ID: 19327736
  • Human Gene Mutation Database (HGMD).
  • Kjer B. et al. 1996. Acta Ophthalmologica Scandinavica. 74: 3-7. PubMed ID: 8689476
  • Klebe S. et al. 2012. Brain : a Journal of Neurology. 135: 2980-93. PubMed ID: 23065789
  • Lenaers G. et al. 2012. Orphanet Journal of Rare Diseases. 7: 46. PubMed ID: 22776096
  • Martín M.A. et al. 2005. Archives of Neurology. 62: 659-61. PubMed ID: 15824269
  • Milone M. et al. 2011. Archives of Neurology. 68: 806-11. PubMed ID: 21670405
  • Rendtorff N.D. et al. 2011. American Journal of Medical Genetics. Part A. 155A: 1298-313. PubMed ID: 21538838
  • Rouzier C. et al. 2012. Brain : a Journal of Neurology. 135: 23-34. PubMed ID: 22189565
  • Spiegel R. et al. 2012. American Journal of Human Genetics. 90: 518-23. PubMed ID: 22405087
  • Thiselton DL. et al. 2001. Human Genetics. 109: 498-502. PubMed ID: 11735024
  • Tranebjaerg L. et al. 2000. European Journal of Human Genetics : Ejhg. 8: 464-7. PubMed ID: 10878669
  • Tucci A. et al. 2014. Journal of Neurology, Neurosurgery & Psychiatry. 85: 486–92. PubMed ID: 24198383
  • Valéro R. et al. 2008. Diabetic Medicine : a Journal of the British Diabetic Association. 25: 657-61. PubMed ID: 18544103
  • Wortmann S.B. et al. 2010. Neurology. 75: 1079-83. PubMed ID: 20855850
  • Yu-Wai-Man P. et al. 2010. Ophthalmology. 117: 1538-46, 1546.e1. PubMed ID: 20417570
  • Yu-Wai-Man P. et al. 2011. Ophthalmology. 118: 558-63. PubMed ID: 21036400


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We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

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Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

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