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Chronic Granulomatous Disease via the NCF4 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
11509 NCF4 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11509NCF481479 81479,81479 $890 Order Options and Pricing

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).

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

  • Megan Piazza, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Chronic granulomatous disease (CGD) is an inherited immunodeficiency characterized by repeated infections with bacterial and fungal pathogens and formation of granulomas. CGD immunodeficiency is due to an impairment of the NADPH oxidase complex resulting in an inability to generate superoxide in phagocytic cells to lyse pathogens (Song et al. 2011). Common pathogens include Staphylococcus aureus, Pseudomonas species, Candida albicans, Aspergillus species, and Nocardia species. Pneumonia, granuloma formation within gastrointestinal and genitourinary tracts, and failure to thrive are hallmark symptoms of the disorder.

CGD via pathogenic variants in the NCF4 gene has only been reported in one case to date. The patient was a 3 year old boy with granulomatous colitis. Other symptoms included recurrent episodes of croup, eczema, sinusitis, non-hemorrhagic diarrhea, intermittent abdominal pain and a low grade fever (Matute et al. 2009).

Genetics

CGD is primarily inherited in an X-linked manner through pathogenic variants in the CYBB gene. Autosomal recessive forms of CGD also occur through pathogenic variants in the CYBA, NCF1, NCF2, and NCF4 genes (Roos and de Boer 2014). To date, only two variants, c.143_152dup10 (p.Lys52Argfsx79) and c.314G>A (p.Arg105Gln) have been reported in the NCF4 gene in a compound heterozygous individual (Matute et al. 2009). The NCF4 gene encodes the p40 phox protein which is a subunit of the NAPDH oxidase enzyme. This complex is essential for the production of superoxide which is central for intracellular killing of pathogens in phagocytes (Song et al. 2011).

Clinical Sensitivity - Sequencing with CNV PGxome

Clinical sensitivity cannot be estimated because only one patient has been reported to date. Analytical sensitivity may be high as all pathogenic variants in the NCF4 gene reported are detectable by sequencing.

Testing Strategy

This test provides full coverage of all coding exons of the NCF4 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

Oxidative burst test (Nitroblue tetrazolium or dihydrorhodamine) indicating impaired superoxide production, recurrent fungal and bacterial infections are characteristic of CGD. Patients may also present with elevated acute phase reactants, such as erythrocyte sedimentation rate (ESR) or C reactive protein (CRP) (Song et al. 2011). This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in NCF4.

Gene

Official Gene Symbol OMIM ID
NCF4 601488
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Citations

  • Matute JD. et al. 2009. Blood. 114: 3309-15. PubMed ID: 19692703
  • Roos D., de Boer M. 2014. Clinical and experimental immunology. 175: 139-49. PubMed ID: 24016250
  • Song E. et al. 2011. Clinical and molecular allergy : CMA. 9: 10. PubMed ID: 21624140

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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