Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Labor Day, GeneDx will be closed and will not accept specimens on Monday, September 7, 2015.  We will resume our normal schedule on Tuesday, September 8, 2015.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

CLCN5 Del/Dup (Females)

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
CLCN5
Disorders:
Clinical Utility:
  • Confirmation of the clinical diagnosis
  • Differentiation between Dent disease and other causes of Fanconi syndrome
  • Determination of appropriate therapeutic approach
  • Identification of carriers
  • Prenatal diagnosis in at-risk pregnancies
Lab Method:
Exon Array CGH

ORDERING

Test Code:
906
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 639.3: Kidney failure Oliguria
  • 275.4: Disorders of calcium metabolism
  • 592: Calculus of kidney Nephrolithiasis NOS, Renal calculus or stone Staghorn calculus Stone in kidney
  • 270: Disturbances of amino-acid transport, Cystinosis, Cystinuria, Fanconi (-de Toni) (-Debré) syndrome, Glycinuria (renal) Hartnup disease
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Hoopes et al., (2005) Am J Hum Genet 76:260- 267
  2. Tosetto et al., (2006) Nephrol Dial Transplant 21:2452-2463
  3. Ludwig et al., (2005) Hum Genet 117:228-237
  4. Rebelo et al., (2005) An Acad Bras Cienc 77(1):95-101

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