Alport Syndrome
NGS panel

Genes
(full coding
region):		 COL4A3, COL4A4, COL4A5
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: COL4A5, COL4A6
Lab method: MLPA
TAT: 4-6 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

  1. Confirmation of clinical diagnosis
  2. Carrier testing for at-risk relatives
  3. Genetic counseling
  4. Prenatal diagnosis for known familial mutation

Alport syndrome is characterized by renal, cochlear, and ocular involvement. The main manifestation is glomerular nephropathy with hematuria, progressing to end-stage renal disease. Eye abnormalities include anterior lenticonus, maculopathy, corneal endothelial vesicles, and recurrent corneal erosion. The hearing loss develops gradually and is usually detectable during late childhood or early adolescence.

Prevalence of Alport syndrome is estimated at 1/50 000.

Alport syndrome is caused by mutations in COL4A3, COL4A4, and COL4A5 genes. The disease is known to be inherited in an X-linked, autosomal recessive or autosomal dominant pattern.

References:

Clifford EK. Alport Syndrome and Thin Basement Membrane Nephropathy. GeneReviews® 2001 Aug 28 (Updated 2013 Feb 28)
Hertz JM et al. Clinical utility gene card for: Alport syndrome. European Journal of Human Genetics. 2012. 20 doi:10.1038/ejhg.2011.237 (Updated 2014 Nov 12)