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Amyotrophic Lateral Sclerosis via the UBQLN2 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
8951 UBQLN2 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8951UBQLN281479 81479,81479 $890 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.

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).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

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

  • Luke Drury, PhD

Clinical Features and Genetics

Clinical Features

Amyotrophic lateral sclerosis (ALS, OMIM 105400), is a neurodegenerative disease characterized by a selective loss of motor neurons in the motor cortex, brain stem, and spinal cord (Tandan and Bradley, Ann Neurol 18:271-280, 1985). The dysfunction and loss of these neurons result 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 and Rothstein, Nat Rev Neurosci 2:806-819, 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, fatigue, tripping, and falling. Although cognitive impairment is not usually associated with ALS, frontal lobe dementia has been reported in rare cases. Dementia in ALS cases occurs in patients from different ethnic groups and affects both males and females (Wikström et al. Arch Neurol 39:681-683, 1982; Lipton et al. Acta Neuropathol 108:379-385, 2004; Mitsuyama and Inoue Neuropathology 29:649-654, 2009). 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.

Genetics

About 10% of ALS cases are familial (Emery and Holloway Adv Neurol 36:139-147, 1982). In most of these families, ALS is inherited in an autosomal dominant (AD-ALS) manner. In rare families, the disease is transmitted with an autosomal recessive pattern (AR-ALS). 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. Five genes have been previously associated with the typical from of ALS, including AD-ALS and SALS (SOD1, FUS, TARDBP, ANG, and OPTN) and two genes with AR-ALS (ALS2 and OPTN). Recently, five UBQLN2 missense variants were reported in five unrelated ALS families with or without dementia. In these families, the disease is inherited in an X-linked dominant manner. Onset of symptoms varies between 16 and 71 years of age, with an earlier onset in male patients. Dementia is not present in all related patients with the same UBQLN2 variant (Deng et al. Nature 477:211-215, 2011). The ubiquilin 2 protein is a member of the ubiquitin-like protein family, which is involved in in vivo protein degradation in the proteasome.

Clinical Sensitivity - Sequencing with CNV PGxome

Unknown at this time.

Testing Strategy

This test provides full coverage of all coding exons of the UBQLN2 gene 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 full 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 X-linked dominant ALS or SALS and no variants in the genes most commonly associated with ALS.

Gene

Official Gene Symbol OMIM ID
UBQLN2 300264
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Amyotrophic Lateral Sclerosis Type 15 XL 300857

Citations

  • 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
  • Deng et al. Nature 477:211-215, 2011 PubMed ID: 21857683
  • Emery A.E., Holloway S. 1982. Advances in Neurology. 36: 139-47. PubMed ID: 7180680
  • 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
  • Mitsuyama, Y. and Inoue, T. (2009). "Clinical entity of frontotemporal dementia with motor neuron disease". Neuropathology 29(6):649-654. PubMed ID: 19780984
  • 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, Paetau A, Palo J, Sulkava R, Haltia M. Classic amyotrophic lateral sclerosis with dementia. Arch Neurol 39:681-3, 1982. PubMed ID: 7125994

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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