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Gene Target: COL4A5

Alport Syndrome (X-Linked)

Alport Syndrome (X-Linked) is a genetic condition associated with variants in the COL4A5 gene or genes. Molecular genetic testing can assist with diagnostic confirmation, familial assessment, and appropriate clinical evaluation.


Indications: Why test COL4A5?

  • Clinical findings suggestive of Alport Syndrome (X-Linked).
  • Family history of Alport Syndrome (X-Linked) or a known familial genetic variant.
  • Molecular confirmation following appropriate clinical assessment.
  • Genetic assessment of relatives where clinically indicated.

When should I take the test? Testing may be considered when clinical findings or family history suggest Alport Syndrome (X-Linked) and molecular confirmation is clinically indicated.

Do I need to fast or prepare? No fasting or special preparation is required.

Test Summary Specs

Turnaround Time 7 to 14 Business Days
Estimated Cost KES 26,500
Methodology Targeted PCR / Sanger / NGS Variant Panel
Sample Type 5 mL Peripheral Whole Blood (EDTA), Buccal Swabs, or Prenatal Samples
Clinical Use Diagnostic Confirmation, Carrier Screening, Reproductive Risk Assessment
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