Number of Panel Genes: 

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 more

Tests Available

4 Panel Genes: COL4A3, COL4A4, COL4A5, COL4A6
Next Generation Sequencing
Test Code: 5142
Deletion / Duplication
Test Code: 5143
NGS/Del Dup Comprehensive
Test Code: 5144

Test Details

Technical Information
Panel Genes: 
Disease Groups: 
Kidney Disorders
Hearing Disorders
CPT Codes: 
81407 x 1
81408 x 1
81479 x 1
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: 2 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: 2 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)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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