Lowe Syndrome (Oculocerebrorenal syndrome of Lowe)

Lowe syndrome is a rare X-linked disorder caused by the deficiency of a phosphatidylinositol bisphosphate (PIP2) 5-phosphatase. The disorder is characterized by bilateral congenital cataracts, a form of renal Fanconi syndrome, with proteinuria, albuminuria, aminoaciduria and phosphaturia, and neurologic deficits including developmental delay/mental retardation, seizures and behavioral stereotypies. Additional findings include hypotonia, a characteristic facies, postnatal growth retardation and corneal keloids. 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

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

Ordering

TA73
3 weeks
2-5 mL Blood - Lavender Top Tube
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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*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

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