DITRA via the IL36RN 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
11391 IL36RN 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11391IL36RN81479 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.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View 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

Clinical Features and Genetics

Clinical Features

Deficiency of Interleukin 36 Receptor Antagonist Deficiency (DITRA) is an autoinflammatory disease with patients developing recurrent erythematous rashes and fevers with onset typically occurring between birth and 10 years of age. Secondary skin infections, diarrhea, dysphagia, asthenia and failure to thrive have also been reported (Sanchez et al. 2013; Marrakchi et al. 2011). Genetic testing is helpful in the differential diagnosis of DITRA from other psoriasis conditions including CARD14 mediated psoriasis (CAMPS) as well as other periodic fever syndromes. Treatment for patients with DITRA includes IL1 receptor antagonists such as anakinra and IL17 inhibition (Rossi-Semerano et. al. 2013; Sanchez et al. 2013).

Genetics

DITRA is inherited in an autosomal recessive manner through pathogenic variants in the IL36RN gene. The majority of pathogenic variants to date are missense and occur throughout the coding region. Small deletions, splice site, and nonsense changes have also been reported (Farooq et al. 2013; Hussain et al. 2015). A p.Leu27Pro change has been reported as a founder variant found within Tunisian populations (Marrakchi et al. 2011). The IL36RN gene encodes the interleukin 36 receptor antagonist and is responsible for regulating inflammatory responses. Missense changes, such as p.Leu27Pro, have been shown to result in unregulated secretion of proinflammatory cytokines such as IL8 in keratinocytes leading to pustular psoriasis (Marrakchi et al. 2011).

Clinical Sensitivity - Sequencing with CNV PGxome

Clinical sensitivity cannot be estimated because only a small number of cases have been reported to date. Analytical sensitivity should be high as all pathogenic variants reported to date are detectable by sequencing.

Testing Strategy

This test provides full coverage of all coding exons of the IL36RN 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

Candidates for testing present with recurrent pustular psoriasis, high fevers, asthenia, increased c-reactive protein and leukocytosis. Patients also present with elevated proinflammatory cytokines due to impaired of IL36 receptor antagonist function (Sanchez et al. 2013). This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in IL36RN.

Gene

Official Gene Symbol OMIM ID
IL36RN 605507
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Interleukin 36 Receptor Antagonist Deficiency AR 614204

Citations

  • Farooq M. et al. 2013. Human Mutation. 34: 176-83. PubMed ID: 22903787
  • Human Gene Mutation Database (Bio-base).
  • Hussain S. et al. 2015. The Journal of Allergy and Clinical Immunology. 135: 1067-70.e9. PubMed ID: 25458002
  • Marrakchi S. et al. 2011. The New England Journal of Medicine. 365: 620-8. PubMed ID: 21848462
  • Rossi-Semerano L. et al. 2013. Pediatrics. 132: e1043-7. PubMed ID: 24019411
  • Sanchez G.A. et al. 2013. Rheumatic Diseases Clinics of North America. 39: 701-34. PubMed ID: 24182851

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

loading Loading... ×

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: $
×
Copy Text to Clipboard
×