Dent Disease 2

Dent disease is characterized by renal Fanconi syndrome with low molecular weight proteinuria, hypercalciuria, nephrolithiasis (kidney stones), nephrocalcinosis (calcification of renal tissue) and progressive renal failure. Mutations in the OCRL gene also cause a form of Dent disease, known as Dent disease 2 (OMIM 300555). Although the most common cause of Dent disease is mutations in the CLCN5 gene, approximately 16-23% of Dent disease cases are due to mutations in the OCRL gene. Dent disease is a rare X-linked disorder characterized by renal Fanconi syndrome, without the cataracts and neurologic deficits that occur in Lowe syndrome.

Tests Available

Forms and Documents

Test Details

OCRL
  • Confirmation of clinical or biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

335
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 270 Disorders of amino-acid transport and metabolism Excludes: abnormal findings without manifest disease (790.0-796.9) disorders of purine and pyrimidine metabolism (277.1-277.2) gout (274.00-274.9)
  • 639.3 Kidney failure Oliguria
  • 277.8 Other specified disorders of metabolism
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References

  1. Leahey et al. Hum Mol Genet 4:461-463, 1993
  2. Utsch et al., Am J Kidney Dis 48, 942
  3. Lin et al., Am J Hum Genet 60:1384-1388, 1997
  4. Suchy et al., Hum Mutat 4:2245-2250, 1995
  5. Hoopes et al., Am J Hum Genet 76:260-267, 2005
  6. Nussbaum and Suchy, Lowe Syndrome, In CR Scriver, AL Beaudet, WE Sly and D Valle (Eds) Metabolic and Molecular Basis of Inherited Diseases, McGraw-Hill, NY, pp. 6257-6266, 2001