Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The DUOXA2 gene encodes an important helper protein to thyroid hormone production. Mutations cause autosomal recessive thyroid dyshormonogenesis 5.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Grasberger H et al. (2006) Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent. 
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| 2. |
Zamproni I et al. (2008) Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism.
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| 3. |
Orphanet article Orphanet ID 168179
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| 4. |
NCBI article NCBI 405753
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| 5. |
OMIM.ORG article Omim 612772
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