• Test code: 08140
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
  • Sample requirements
  • Request a sample kit

Invitae Chronic Mucocutaneous Candidiasis Panel

Test description

The Invitae Chronic Mucocutaneous Candidiasis Panel analyzes up to 11 genes that are associated with an increased susceptibility to candidal infections. Testing of these genes may confirm a diagnosis or help guide treatment and management decisions. Identification of a disease-causing variant would also guide testing and diagnosis of at-risk relatives. This test would not be appropriate for an individual who has acquired chronic mucocutaneous candidiasis (CMC) as a result of an acquired T-cell deficiency.

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Primary panel (4 genes)
Add-on Syndromic Chronic Mucocutaneous Candidiasis Genes (7 genes)

Patients with syndromic CMC will have Candida infections in addition to other clinical and infectious phenotypes. Given that Candida infections can be a presenting feature of these disorders, analyzing the genes associated with syndromic CMC may be appropriate. These genes can be included at no additional charge.


Alternative tests to consider

For a broader analysis of genetics of primary immunodeficiencies:

Gene Disorder Protein name Protein symbol
IL17F IL-17F deficiency interleukin-17F IL-17F
IL17RA IL-17RA deficiency interleukin-17 receptor alpha IL-17RA
IL17RC IL-17RC deficiency interleukin-17 receptor like protein IL-17RC
TRAF3IP2 ACT1 deficiency nuclear factor kappa-b activator 1 ACT1

Chronic mucocutaneous candidiasis (CMC) is characterized by recurrent or persistent infections due to Candida species, most often Candida albicans. Patients with CMC can have candidal infections of the nails, skin, oral, digestive, and genital mucosae, but typically have no other clinical symptoms or persistent infections from other organisms. Patients are considered to have CMC disease when CMC is the hallmark feature without other prominent clinical signs or genetic etiologies such as severe combined immunodeficiency (SCID) and combined immunodeficiency (CID), where CMC is a component of the entire clinical picture.

The clinical sensitivity for this test is unknown. The percentage of patients with CMC and a pathogenic variant(s) in one of the genes offered in this panel has not been determined.

The inheritance of CMC is dependant on the underlying genetic etiology:

Gene Inheritance
IL17F Autosomal dominant
IL17RA Autosomal recessive
IL17RC Autosomal recessive
TRAF3IP2 Autosomal recessive

The exact prevalence of CMC is unknown, although it is thought to be rare.

This panel may be appropriate for patients:

  • with frequent or persistent Candida infections
  • without infections caused by additional organisms
  • without other clinical features

  1. Lanternier, F, et al. Deep dermatophytosis and inherited CARD9 deficiency. N. Engl. J. Med. 2013; 369(18):1704-14. PMID: 24131138
  2. Alves, de, Medeiros, AK, et al. Chronic and Invasive Fungal Infections in a Family with CARD9 Deficiency. J. Clin. Immunol. 2016; 36(3):204-9. PMID: 26961233
  3. Glocker, EO, et al. A homozygous CARD9 mutation in a family with susceptibility to fungal infections. N. Engl. J. Med. 2009; 361(18):1727-35. PMID: 19864672
  4. Lanternier, F, et al. Inherited CARD9 deficiency in otherwise healthy children and adults with Candida species-induced meningoencephalitis, colitis, or both. J. Allergy Clin. Immunol. 2015; 135(6):1558-68.e2. PMID: 25702837
  5. Toubiana, J, et al. Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype: an international survey of 274 patients from 167 kindreds. Blood. 2016; :None. PMID: 27114460
  6. Uzel, G, et al. Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome. J. Allergy Clin. Immunol. 2013; 131(6):1611-23. PMID: 23534974
  7. Sampaio, EP, et al. Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis. J. Allergy Clin. Immunol. 2013; 131(6):1624-34. PMID: 23541320
  8. Kisand, K, Peterson, P. Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy. J. Clin. Immunol. 2015; 35(5):463-78. PMID: 26141571
  9. Oftedal, BE, et al. Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases. Immunity. 2015; 42(6):1185-96. PMID: 26084028
  10. Okada, S, et al. Chronic mucocutaneous candidiasis disease associated with inborn errors of IL-17 immunity. Clin Transl Immunology. 2016; 5(12):e114. PMID: 28090315
  11. Lanternier, F, et al. Primary immunodeficiencies underlying fungal infections. Curr. Opin. Pediatr. 2013; 25(6):736-47. PMID: 24240293

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
AIRE NM_000383.3
CARD9 NM_052813.4
IL12B NM_002187.2
IL12RB1 NM_005535.2
IL17F NM_052872.3
IL17RA NM_014339.6
IL17RC NM_153461.3
RORC NM_005060.3
STAT1 NM_007315.3
STAT3 NM_139276.2
TRAF3IP2 NM_147686.3