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IL-12 Receptor B1 Deficiency via the IL12RB1 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
IL12RB1 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8045IL12RB181479 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.


Genetic Counselors


  • Megan Piazza, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Interleukin 12 receptor B1 (IL12RB1) deficiency is the most prevalent type of Mendelian susceptibility to mycobacterial disease (MSMD) and immunodeficiency syndrome. Affected patients display infection with poorly virulent bacteria nontuberculous Mycobacteria, nontyphoidal Salmonella and Candida albicans with symptom onset occurring around 3 years of age (Elloumi-Zghal et al. 2002). In a study of 132 patients with IL12RB1 deficiency, Bacille Calmette-Guerin disease occurred in 75% of individuals vaccinated with the bacterium and several developed disseminated disease. Salmonella and Candida albicans infections occurred in 43% and 24% of individuals. In 15% of cases, disseminated infections were fatal with average age of death being 8 years old. Interestingly, patients display broad resistance to other infectious agents beyond Mycobacterium and Salmonella (de Beaucoudrey et al. 2010). Genetic testing is helpful in the differential diagnosis of IL12RB1 deficiency from other MSMDs including interferon gamma receptor deficiencies, ectodermal dysplasia with immunodeficiency, and STAT1 deficiency (Bustamante et al. 2014).


IL12RB1 deficiency is inherited in an autosomal recessive manner through pathogenic variants in the IL12RB1 gene. The majority of pathogenic variants reported to date result in loss of IL12RB1 surface expression. In a few cases, nonfunctional IL12RB1 surface receptors have been found (Fieschi et al. 2004). Splice site, missense, nonsense, and small insertions/deletions account for 27%, 24%, 20%, and 26% of pathogenic variants in the IL12RB1 gene. Pathogenic variants occur throughout the entire gene except exons 16 and 17 near the c-terminal end (van de Vosse et al. 2013; de Beaucoudrey et al. 2010). Gross deletions are reported in about 3% of cases. Penetrance is not complete with about 12% of individuals being asymptomatic (van de Vosse et al. 2013). The IL12RB1 gene encodes the IL12 receptor B2 chain which is a subunit of both the IL12 and IL23 receptors. Upon binding their respective cytokines, IL12 and IL23 signaling activate Interferon gamma expression to ward off infection (Altare et al. 1998).

Clinical Sensitivity - Sequencing with CNV PGxome

In a study of 141 patients with IL12RB1 deficiency, pathogenic variants in the IL12RB1 gene were found in 94% of cases. Analytical sensitivity is >95% as gross deletions have only been reported in a few cases (van de Vosse et al. 2013; de Beaucoudrey et al. 2010).

Testing Strategy

This test provides full coverage of all coding exons of the IL12RB1 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 include individuals with BCM disease, nontyphoidal Salmonellosis, or Candida albicans infections. Affected individuals exhibit decreased interferon gamma secretion in response to infection to these select pathogens. Ideal candidates have flow cytometry displaying loss of IL12RB1 receptor expression (de Beaucoudrey et al. 2010; van de Vosse et al. 2013). This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in IL12RB1.


Official Gene Symbol OMIM ID
IL12RB1 601604
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
IL12RB1 Deficiency AR 614891


  • Altare F, Durandy A, Lammas D, Emile J-F, Lamhamedi S, Deist F Le, Drysdale P, Jouanguy E, Döffinger R, Bernaudin F, Jeppsson O, Gollob JA, Meinl E, Segal AW, Fischer A, Kumararatne D, Casanova JL. 1998. Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency. Science 280: 1432–1435. PubMed ID: 9603732
  • Bustamante J, Boisson-Dupuis S, Abel L, Casanova J-L. 2014. Mendelian susceptibility to mycobacterial disease: Genetic, immunological, and clinical features of inborn errors of IFN-? immunity. Seminars in Immunology 26: 454–470. PubMed ID: 25453225
  • de Beaucoudrey L, Samarina A, Bustamante J, Cobat A, Boisson-Dupuis S, Feinberg J, Muhsen S Al-, Jannière L, Rose Y, Suremain M de, Kong X-F, Filipe-Santos O, Chapgier A, Picard C, Fischer A, Dogu F, Ikinciogullari A, Tanir G, Al-Hajjar S, Al-Jumaah S, Frayha HH, AlSum Z, Al-Ajaji S, Alangari A, Al-Ghonaium A, Adimi P, Mansouri D, Ben-Mustapha I, Yancoski J, Garty BZ, Rodriguez-Gallego C, Caragol I, Kutukculer N, Kumararatne DS, Patel S, Doffinger R, Exley A, Jeppsson O, Reichenbach J, Nadal D, Boyko Y, Pietrucha B, Anderson S, Levin M, Schandené L, Schepers K, Efira A, Mascart F, Matsuoka M, Sakai T, Siegrist CA, Frecerova K, Blüetters-Sawatzki R, Bernhöft J, Freihorst J, Baumann U, Richter D, Haerynck F, De Baets F, Novelli V, Lammas D, Vermylen C, Tuerlinckx D, Nieuwhof C, Pac M, Haas WH, Müller-Fleckenstein I, Fleckenstein B, Levy J, Raj R, Cohen AC, Lewis DB, Holland SM, Yang KD, Wang X, Wang X, Jiang L, Yang X, Zhu C, Xie Y, Lee PP, Chan KW, Chen TX, Castro G, Natera I, Codoceo A, King A, Bezrodnik L, Di Giovani D, Gaillard MI, de Moraes-Vasconcelos D, Grumach AS, da Silva Duarte AJ, Aldana R, Espinosa-Rosales FJ, Bejaoui M, Bousfiha AA, Baghdadi JE, Ozbek N, Aksu G, Keser M, Somer A, Hatipoglu N, Aydogmus C, Asilsoy S, Camcioglu Y, Gülle S, Ozgur TT, Ozen M, Oleastro M, Bernasconi A, Mamishi S, Parvaneh N, Rosenzweig S, Barbouche R, Pedraza S, Lau YL, Ehlayel MS, Fieschi C, Abel L, Sanal O, Casanova JL. 2010. Revisiting Human IL-12R?1 Deficiency: A Survey of 141 Patients From 30 Countries. Medicine 89: 381–402. PubMed ID: 21057261
  • Elloumi-Zghal H, Barbouche MR, Chemli J, Béjaoui M, Harbi A, Snoussi N, Abdelhak S, Dellagi K. 2002. Clinical and genetic heterogeneity of inherited autosomal recessive susceptibility to disseminated Mycobacterium bovis bacille calmette-guerin infection. Journal of Infectious Diseases 185: 1468–1475. PubMed ID: 11992283
  • Fieschi C. 2004. A novel form of complete IL-12/IL-23 receptor 1 deficiency with cell surface-expressed nonfunctional receptors. Blood 104: 2095–2101. PubMed ID: 15178580
  • van de Vosse E, Haverkamp MH, Ramirez-Alejo N, Martinez-Gallo M, Blancas-Galicia L, Metin A, Garty BZ, Sun-Tan Ç, Broides A, Paus RA de, Keskin Ö, Çagdas D, Tezcan I, Lopez-Ruzafa E, Aróstegui JI, Levy J, Espinosa-Rosales FJ, Sanal Ö, Santos-Argumedo L, Casanova JL, Boisson-Dupuis S, van Dissel JT, Bustamante J. 2013. IL-12R?1 Deficiency: Mutation Update and Description of the IL12RB1 Variation Database. Human Mutation 34: 1329–1339. PubMed ID: 23864330


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