Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holidays, GeneDx will be closed for business on Thursday, December 25, 2014 and on Thursday, January 1, 2015. We will be unable to receive and process specimens. FedEx and UPS will also not be in operation. Except for the aforementioned dates, GeneDx will operate on our normal schedule (Monday-Saturday), including December 24th and December 31st.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at

COL4A5 Del/Dup



Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Differentiation between X-linked and autosomal recessive or dominant forms of the disease
  • Carrier detection in female relatives of an affected male
  • Prenatal diagnosis in at-risk pregnancies
Lab Method:
Exon Array CGH


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


CPT Codes:
84311x1, 88271x10, 88291x1
New York Approved:
ABN Required:
Billing Information:
View Billing Policy
ICD Codes:
  • 743.8: Other specified anomalies of eye
  • 585.9: Chronic kidney disease, unspecified Chronic renal disease Chronic renal failure NOS, Chronic renal insufficiency
  • 389.1: Sensorineural hearing loss, Perceptive hearing loss or deafness
  • 583.9: With unspecified pathological lesion in kidney Glomerulitis NOS, Glomerulonephritis NOS, Nephritis NOS, Nephropathy NOS
* For price inquiries please email


  1. Arrondel C et al (2004) Kidney Int 65:2030-2040
  2. Gross O et al (2002). Nephrol Dial Transplant 17:1218-1227
  3. Hertz JM et al (2001). Human Mutation 18:141-148
  4. Kashtan C (1999). Medicine (Baltimore) 78:338-360
  5. Kashtan C (Updated 01-08-2007) Collagen IV-Related Nephropathies (Alport Syndrome and Thin Basement Membrane Nephropathy)
  6. Martin, P et al (1998). J Am Soc Nephrol 9:2291-2301
  7. Plant K et al (1999). Human Mutation 13:124-132
  8. Vetrie et al (1992) Genomics 14(3):624-633

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