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Test Code: PNL229

Refsum disease (5 Genes)

Neurogenetics
Refsum disease is a rare autosomal recessive metabolic disorder caused by impaired breakdown of phytanic acid, leading to its toxic accumulation in tissues. It presents with progressive neurological, ophthalmologic, and dermatologic symptoms.
Sample Type
3 ml peripheral blood in EDTA (purple/pink top) tube
Turnaround Time
3 weeks days
Courier Requirements
Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Pricing

Genes Analyzed

5 genes
PEX1 PEX2 PEX26 PEX7 PHYH

Methodology

Capture-based target enrichment and Next Generation Sequencing.
Test Actions
Specifications
  • Test Code PNL229
  • Category Neurogenetics
  • Sample 3 ml peripheral blood in EDTA (purple/pink top) tube
  • TAT 3 weeks days
  • Courier Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
  • Genes 5 genes analyzed
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