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Optic Atrophy Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
10331 ACO2 81479,81479 Order Options and Pricing
AUH 81479,81479
CISD2 81479,81479
MFN2 81406,81479
MTPAP 81479,81479
MTRFR 81479,81479
NDUFS1 81406,81479
NR2F1 81479,81479
OPA1 81407,81406
OPA3 81479,81479
POLG 81406,81479
SLC24A1 81479,81479
SPG7 81406,81405
TIMM8A 81479,81479
TMEM126A 81479,81479
WFS1 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10331Genes x (16)81479 81405(x1), 81406(x5), 81407(x1), 81479(x25) $890 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 backbone).

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

Turnaround Time

18 days on average for standard orders or 13 days 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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • 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).

Genetics

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), SLC24A1 (Sharon et al. 2002), 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, SLC24A1, 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.

Genes

Official Gene Symbol OMIM ID
ACO2 100850
AUH 600529
CISD2 611507
MFN2 608507
MTPAP 613669
MTRFR 613541
NDUFS1 157655
NR2F1 132890
OPA1 605290
OPA3 606580
POLG 174763
SLC24A1 603617
SPG7 602783
TIMM8A 300356
TMEM126A 612988
WFS1 606201
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test

Name
PGxome®

Citations

  • 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
  • Sharon D. et al. 2002. Investigative Ophthalmology & Visual Science. 43: 1971-9. PubMed ID: 12037007
  • 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

Ordering/Specimens

Ordering Options

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.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
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