COL4A5 Gene Sequencing

Forms and Documents

Test Details

COL4A5
  • 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
  • Capillary Sequencing

Ordering

281
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Brushes

Billing

81408x1
No
Yes
  • 585.9 Chronic kidney disease, unspecified Chronic renal disease Chronic renal failure NOS, Chronic renal insufficiency
  • 743.8 Other specified anomalies of eye
  • 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 zebras@genedx.com

References

  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