Test Code: PNL229

Genes: PEX1, PEX2, PEX26, PEX7, PHYH (5 genes)

Sample Type: 3 ml peripheral blood in EDTA (purple/pink top) tube

Method: Capture-based target enrichment and Next Generation Sequencing.

Turnaround Time: 3 weeks

Courier: Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.

Price: 1600

Description:
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.