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Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via the DUOX2 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
11271 DUOX2 81479 81479,81479 $1070 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11271DUOX281479 81479,81479 $1070 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

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


  • Greg Fischer, PhD

Clinical Features and Genetics

Clinical Features

Congenital hypothyroidism (CH) is the most common congenital endocrine disorder. It occurs in one of every 3,000-4,000 newborns and is twice as common in females as in males. Without early and adequate treatment, CH is characterized by growth failure, developmental delay, and permanent intellectual disability. Current newborn screening primarily detects the elevated thyroid stimulating hormone (TSH) level at birth in response to decreased or absent thyroid hormone production and can identify over 90% of CH cases. Most CH patients grow and develop normally after treatment with thyroxine (Park and Chatterjee 2005; Rose et al. 2006).

CH is usually a sporadic disorder, but growing evidence confirms several genetic mechanisms together account for at least 5% of cases. The majority of CH cases (~80%) are due to developmental defects of the thyroid gland known as thyroid dysgenesis, including thyroid agenesis, hypoplasia, and ectopy. The remaining ~15% are caused by defects in one of the steps of thyroid hormone biosynthesis (thyroid dyshormonogenesis). Other less common causes are central hypothyroidism (impaired hypothalamic-pituitary-thyroid axis), thyroid hormone transporter defects, and thyroid hormone resistance (Péter and Muzsnai 2011; Nettore et al. 2013; Weber et al. 2013).


DUOX2-related CH due to a partial iodide organification defect presents with either dominant or recessive patterns of inheritance. A single inactivating mutation in DUOX2 is usually associated with transient CH as the result of DUOX2 haploinsufficiency (Moreno et al. 2002). In patients with biallelic DUOX2 defects, CH can be either permanent or transient (Maruo et al. 2008; Muzza et al. 2014). Hydrogen peroxide is required for the iodination and coupling reaction during thyroid hormone synthesis. The DUOX2 gene encodes one of the dual oxidases which produce hydrogen peroxide in thyroid follicular cells (Grasberger and Refetoff 2011). Documented pathogenic DUOX2 variants include missense, nonsense, splicing variants, small insertions/deletions, and a gross deletion. No phenotype-genotype correlations have been established (Moreno et al. 2002; Maruo et al. 2008; Muzza et al. 2014).

Clinical Sensitivity - Sequencing with CNV PGxome

Congenital hypothyroidism (CH) is normally a sporadic disease, but in about 5% of cases a genetic cause has been demonstrated. Pathogenic variants in multiple genes from several molecular mechanisms are associated with CH (Péter and Muzsnai 2011). Relatively little information is available in the literature regarding clinical sensitivity. However, in one population-based cohort of 102 patients with CH, pathogenic DUOX2 variants were found in 4 out of 14 patients diagnosed as thyroid dyshormonogenesis (Narumi et al. 2011).

It is difficult to estimate the clinical sensitivity of this test due to the lack of large cohort study. 62 pathogenic variants have been identified in the DUOX2 gene, and only one of them is gross deletion (Human Gene Mutation Database).

Testing Strategy

This test provides full coverage of all coding exons of the DUOX2 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 hypothyroidism and absence of anti-thyroid antibodies. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in DUOX2.


Official Gene Symbol OMIM ID
DUOX2 606759
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Thyroid Dyshormonogenesis 6 AD,AR 607200


  • Grasberger H., Refetoff S. 2011. Current Opinion in Pediatrics. 23: 421-8. PubMed ID: 21543982
  • Human Gene Mutation Database (HGMD).
  • Maruo Y. et al. 2008. The Journal of Clinical Endocrinology and Metabolism. 93: 4261-7. PubMed ID: 18765513
  • Moreno J.C. et al. 2002. The New England Journal of Medicine. 347: 95-102. PubMed ID: 12110737
  • Muzza M. et al. 2014. The Journal of Clinical Endocrinology and Metabolism. 99: E544-53. PubMed ID: 24423310
  • Narumi S. et al. 2011. The Journal of Clinical Endocrinology and Metabolism. 96: E1838-42. PubMed ID: 21900383
  • Nettore I.C. et al. 2013. Journal of Endocrinological Investigation. 36: 654-64. PubMed ID: 23698639
  • Park S.M., Chatterjee V.K. 2005. Journal of Medical Genetics. 42: 379-89. PubMed ID: 15863666
  • Péter F., Muzsnai A. 2011. Pediatric Clinics of North America. 58: 1099-115, ix. PubMed ID: 21981951
  • Rose S.R, American Academy of Pediatrics. et al. 2006. Pediatrics. 117: 2290-303. PubMed ID: 16740880
  • Weber G. et al. 2013. Journal of Endocrinological Investigation. 36: 261-6. PubMed ID: 23404134


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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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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