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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:
84311x1, 88271x10, 88291x1
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
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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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