Alport syndrome is a genetically heterogeneous disorder with autosomal dominant, autosomal recessive and X-linked inheritance. The estimated prevalence is about 1 in 50,000 live births. All forms are caused by mutations in the genes encoding type IV collagen, which is a basement membrane component. Alport syndrome is characterized by a progressive glomerulonephropathy, sensorineural hearing loss and various ocular anomalies.read more

Tests Available

By gene: COL4A5
Next Generation Sequencing
$990
Test Code: 1017
Deletion / Duplication
$680
Test Code: 1018
NGS/Del Dup Comprehensive
$1,570
Test Code: 1463

Related Panels
Craniosynostosis NGS panel (25 genes)
NGS $1,495
Del Dup $990
Comp $1,870

Test Details

Technical Information
Genes: 
COL4A5
Disease Groups: 
Kidney Disorders
Hearing Disorders
MIM: 
301050
Billing
Price: 
$990
CPT Codes: 
81408 x 1
Ordering
SKU:
1017
Turnaround Time: 
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 4 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

Search Tests

TIP: enter a partial disorder name or gene to widen your search