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SELENON-Related Diseases via the SELENON/SEPN1 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
SELENON 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11659SELENON81479 81479,81479 $990 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 platform).

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

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

For Sanger Sequencing click here.

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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Angela Gruber, PhD

Clinical Features and Genetics

Clinical Features

Variants in the SELENON/SEPN1 gene (OMIM 606210) cause a clinically heterogeneous group of myopathic conditions in which muscle fibers show areas of diminished oxidative staining due to lack of mitochondria (minicores), or fiber-type disproportion in which type 1 muscle fibers are smaller than type 2 fibers. Both minicores and fiber-type disproportion can be observed in the muscle of the same patient (Tajsharghi et al. Neuromuscul Disord 15:299-302, 2005). Approximately 75% of all cases of multiminicore disease (MmD) fall into the classic form with onset at birth or in early childhood (Beggs and Agrawal. GeneReviews, 2008). Clinical findings include hypotonia, delayed motor development, and axial and proximal weakness. Severe, life-threatening scoliosis and respiratory complications develop secondary to axial weakness. Cardiomyopathy and right ventricular failure often develop following respiratory symptoms. Ambulation is seen in classic MmD patients, because limb muscles are spared. It is now established that rigid spine muscular dystrophy (RSMD1; OMIM 602771, Moghadaszadeh et al. Nature Genet 29:17-18, 2001) and severe classic form of MmD are the same entity (Ferreiro et al. Am J Hum Genet 71:739-749, 2002). Other forms of MmD are the moderate form with hand involvement, the antenatal form with arthrogryposis multiplex congenital (OMIM 607552), and the ophthalmologic form (OMIM 255320), which resembles the classic form but has external ophthalmoplegia. Each of these forms represents less than 10% of the total number of cases of MmD. There is evidence that some cases of the mild form with hand involvement result from RYR1 gene variants (Ferreiro et al. Ann Neurol 51:750-759, 2002). Congenital fiber-type disproportion (CFTD, OMIM 255310) is a genetically heterogeneous congenital myopathy sometimes caused by SELENON variants (Taylor-DeChene et al. GeneReviews, 2008). Clinical features of CFTD are similar to rigid spine muscular dystrophy (Clarke et al. Ann Neurol 59:546-552, 2006).

Genetics

SELENON codes for selenoprotein N, a selenocysteine-containing protein involved in selenium metabolism. The SELENON-related disorders are inherited as autosomal recessive conditions. Variants are distributed throughout the gene with most causing amino acid substitutions. Other forms of variants include nonsense, splicing, frameshift, and gross deletions (www.dmd.nl). One patient with rigid spine muscular dystrophy has been reported with a homozygous variant of the selenocysteine insertion sequence located in the 3’ UTR (Allamand et al. EMBO Rep 7:450-454, 2006).

Clinical Sensitivity - Sequencing with CNV PGxome

SELENON variants account for approximately 30% of all MmD and 40% of rigid spine muscular dystrophy. Mild cases of MmD with hand involvement may have RYR1 gene variants. Evaluation of other genes associated with congenital fiber-type disproportion (TPM3, ACTA1, RYR1, and TPM2) may increase the overall clinical sensitivity.

Testing Strategy

This test provides full coverage of all coding exons of the SELENON 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

Individuals with clinical symptoms consistent with multiminicore disease (MmD) or rigid spine muscular dystrophy (RSMD1) with minicores in a large proportion of muscle fibers and stable or slowly progressive weakness. Patients with congenital myopathy with fiber-type disproportion who have had TPM3, ACTA1, and RYR1 variants ruled-out. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in SELENON.

Gene

Official Gene Symbol OMIM ID
SELENON 606210
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Citations

  • Allamand V, Richard P, Lescure A, Ledeuil C, Desjardin D, Petit N, Gartioux C, Ferreiro A, Krol A, Pellegrini N, Urtizberea JA, Guicheney P. 2006. A single homozygous point mutation in a 3?untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy. EMBO Rep 7: 450–454. PubMed ID: 16498447
  • Beggs AH, Agrawal PB. 2013. Multiminicore Disease. 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: 20301467
  • Clarke NF, Kidson W, Quijano-Roy S, Estournet B, Ferreiro A, Guicheney P, Manson JI, Kornberg AJ, Shield LK, North KN. 2006. SEPN1: associated with congenital fiber-type disproportion and insulin resistance. Ann. Neurol. 59: 546–552. PubMed ID: 16365872
  • DeChene ET, Kang PB, Beggs AH. 2013. Congenital Fiber-Type Disproportion. 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: 20301436
  • Ferreiro, A., et.al. (2000). PubMed ID: 11079538
  • Moghadaszadeh B, Petit N, Jaillard C, Brockington M, Quijano Roy S, Merlini L, Romero N, Estournet B, Desguerre I, Chaigne D, Muntoni F, Topaloglu H, et al. 2001. Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Nat. Genet. 29: 17–18. PubMed ID: 11528383
  • Tajsharghi H, Darin N, Tulinius M, Oldfors A. 2005. Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1). Neuromuscul. Disord. 15: 299–302. PubMed ID: 15792869

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

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.


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

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2) Select Additional Test Options

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