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Amyotrophic Lateral Sclerosis via the OPTN Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
OPTN 81406 81406,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
6929OPTN81406 81406,81479 $990 Order Options and Pricing

Pricing Comments

Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.

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

This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.

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


  • Sali Farhan, PhD

Clinical Features and Genetics

Clinical Features

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by a selective loss of motor neurons in the motor cortex, brain steam, and spinal cord (Tandan, R. and Bradley, W.G. Ann Neurol 18(3):271-280, 1985). The dysfunction and loss of these neurons results in rapid progressive muscle weakness, atrophy and ultimately paralysis of limb, bulbar and respiratory muscles. The mean age of onset of symptoms is about 55 years of age; most cases begin between 40 and 70 years of age. The annual incidence of ALS is 1-2 per 100,000 (Cleveland, D.W. and Rothstein, J.D. Nat Rev Neurosci 2(11):806-819, 2001). The most common symptoms include twitching and cramping of muscles of the hands and feet, loss of motor control in the hands and arms, weakness and fatigue, tripping and falling. Symptoms usually begin with asymmetric involvement of the muscles. As the disease progresses, symptoms may include difficulty in talking, breathing and swallowing, shortness of breath, and paralysis. Cognitive impairment has not been initially associated with ALS. However, frontotemporal dementia (FTD) has been reported in several cases. Dementia has been documented in patients with ALS from different ethnic groups and affects both males and females (Wikström, J. et al. Arch Neurol 39(11):681-683, 1982; Lipton, A.M. et al. Acta Neuropathol 108(5):379-385, 2004; Mitsuyama, Y. and Inoue, T. Neuropathology 29(6):649-654, 2009).


About 10% of ALS cases are familial (Emery, A.E. and Holloway, S. Adv Neurol 36:139-147, 1982). In most of these families, ALS is inherited in an autosomal dominant manner (AD-ALS) and is age-dependent with high penetrance. In rare families, the disease is transmitted in an autosomal recessive or dominant X-linked pattern. About 90% of patients with ALS are sporadic cases (SALS) with no known affected relatives. It is unclear how many of the apparently sporadic cases are inherited with low penetrance. The clinical presentations of familial ALS (FALS) and sporadic ALS (SALS) are similar. However, the onset of symptoms in FALS is usually earlier compared to that of SALS (Kinsley and Siddique. GeneReviews, 2012). Autosomal Dominant ALS (AD-ALS) is a clinically and genetically heterogeneous disorder that affects all ethnic groups. At least twelve genetic loci have been reported. Several genes have been identified and include C9orf72, SOD1, FUS, TARDBP, ANG and OPTN. Over 20 different pathogenic variants in the OPTN gene have been reported in patients with ALS including AD-ALS, SALS and AR-ALS. Initially, both recessive and dominant OPTN mutations were found in Japanese cases of ALS (Maruyama, H. et al. Nature 465(7295):223-226, 2010). Subsequently, dominant mutations were found in European cases including Italian (Del Bo, R. et al. J Neurol Neurosurg Psychiatry 82(11):1239-1243, 2011), Danish (Tümer, Z. et al. Neurobiol Aging 33(1):208.e1-5, 2012), and Canadian (Belzil, W. et al. Neurobiol Aging 32(3):555.e13-4, 2011). Although most mutations are missense, other types were also reported including nonsense, splicing, small deletions or insertions, indels, and large deletions. OPTN mutations account for up to 1.2% of AD-ALS and 3.5% of SALS cases of European descent (Del Bo, R. et al., 2011). To date, recessive mutations were reported in Japanese cases only (Maruyama, H. et al., 2010; Iida, A. et al. Neurobiol Aging 33(8):1843.e19-24, 2012; Iida, A. et al. J Neurol Neurosurg Psychiatry 83(2):233-235, 2012). Of note, based on current data, the OPTN gene does not appear to be involved in FTD or ALS-FTD. Prior to their involvement with ALS, OPTN mutations have been reported in patients with primary open-angle glaucoma and ataxia (POAG) (Rezaie, T. et al. Science 295(5557):1077-1079, 2002). The OTPN gene encodes optineurin protein, which has several roles including transcription activation and membrane trafficking.

Clinical Sensitivity - Sequencing with CNV PG-Select

OPTN mutations account for up to 1.2% of AD-ALS and 3.5% of SALS cases of European descent (Del Bo, R. et al. J Neurol Neurosurg Psychiatry 82(11):1239-1243, 2011).

Large pathogenic deletions in the OPTN gene have been reported in Japanese ALS cases (Maruyama, H. et al. Nature 465(7295):223-226, 2010; Iida, A. et al. Neurobiol Aging 33(8):1843.e19-24, 2012; Iida, A. et al. J Neurol Neurosurg Psychiatry 83(2):233-235, 2012). However, the proportion of patients with such deletions is unknown at this time.

Testing Strategy

This test provides full coverage of all coding exons of the OPTN gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Patients with symptoms suggestive of AD-ALS, SALS, or AR-ALS and no mutations in the genes most commonly associated with ALS. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in OPTN.


Official Gene Symbol OMIM ID
OPTN 602432
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Tests

Amyotrophic Lateral Sclerosis (ALS) via the hnRNPA1 Gene
Amyotrophic Lateral Sclerosis / Motor Neuron Disease via the FUS Gene
Amyotrophic Lateral Sclerosis via the ANG Gene
Amyotrophic Lateral Sclerosis/Motor Neuron Disease via the PFN1 Gene
Amyotrophic Lateral Sclerosis/Motor Neuron Disease via the TARDBP Gene


  • Belzil, W. et al. (2011). "Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis." Neurobiol Aging 32(3):555.e13-14. PubMed ID: 21074290
  • Cleveland, D.W. and Rothstein, J.D. (2001). "From Charcot to Lou Gehrig: deciphering selective motor neuron death in ALS." Nat Rev Neurosci 2(11): 806-819. PubMed ID: 11715057
  • Del Bo, R. et al. (2011). "Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis." J Neurol Neurosurg Psychiatry 82(11):1239-1243. PubMed ID: 21613650
  • Emery A.E., Holloway S. 1982. Advances in Neurology. 36: 139-47. PubMed ID: 7180680
  • Iida A, Hosono N, Sano M, Kamei T, Oshima S, Tokuda T, Kubo M, Nakamura Y, Ikegawa S. 2012. Optineurin mutations in Japanese amyotrophic lateral sclerosis. J. Neurol. Neurosurg. Psychiatr. 83: 233–235. PubMed ID: 21217154
  • Iida A, Hosono N, Sano M, Kamei T, Oshima S, Tokuda T, Nakajima M, Kubo M, Nakamura Y, Ikegawa S. 2012. Novel deletion mutations of OPTN in amyotrophic lateral sclerosis in Japanese. Neurobiology of Aging 33: 1843.e19–1843.e24. PubMed ID: 22402017
  • Kinsley L, Siddique T. 2015 Amyotrophic Lateral Sclerosis Overview. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301623
  • Lipton, A.M. et al. (2004). "Frontotemporal lobar degeneration with motor neuron disease-type inclusions predominates in 76 cases of frontotemporal degeneration". Acta Neuropathol 108(5):379-385. PubMed ID: 15351890
  • Maruyama H, Morino H, Ito H, Izumi Y, Kato H, Watanabe Y, Kinoshita Y, Kamada M, Nodera H, Suzuki H, Komure O, Matsuura S,Kobatake K, Morimoto N, Abe K, Suzuki N, Aoki M, Kawata A, Hirai T, Kato T, Ogasawara K, Hirano A, Takumi T, Kusaka H, Hagiwara K, Kaji R, Kawakami H. 2010. Mutations of optineurin in amyotrophic lateral sclerosis. Nature 465: 223–226. PubMed ID: 20428114
  • Mitsuyama, Y. and Inoue, T. (2009). "Clinical entity of frontotemporal dementia with motor neuron disease". Neuropathology 29(6):649-654. PubMed ID: 19780984
  • Rezaie T, Child A, Hitchings R, Brice G, Miller L, Coca-Prados M, Héon E, Krupin T, Ritch R, Kreutzer D, Crick RP, Sarfarazi M. 2002. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science 295: 1077–1079. PubMed ID: 11834836
  • Tümer, Z. et al. (2012). "Novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS." Neurobiol Aging 33(1):208.e1-5. PubMed ID: 21852022
  • Tandan, R. and Bradley, WG. (1985). "Amyotrophic lateral sclerosis: Part 1. Clinical features, pathology, and ethical issues in management." Ann Neurol 18(3): 271-280. PubMed ID: 4051456
  • Wikström J. et al. (1982). "Classic amyotrophic lateral sclerosis with dementia". Arch Neurol 39(11):681-683 PubMed ID: 7125994


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

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

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