Test Code: PNL055

Ciliopathies: Primary Ciliary Dyskinesia (39 Genes); Joubert Synd (46 Genes); Bardet-Biedl Syndrome Panel (32 genes)/SeniorLoken Synd (13 genes)

Ciliopathies
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

Methodology

Capture-based target enrichment and Next Generation Sequencing

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