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Congenital central hypoventilation syndrome (Ondine Curse, sequence analysis of PHOX2B gene)
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Sanger sequencing

Specimen Requirements

Descriptive Volume /
Concentration 1
Container Transport
viability (days) 2
DNA ≥ 100 µL [50 ng/µL] Eppendorf Safe-lock Room temp. n/a
Peripheral blood ≥ 3 mL EDTA Room temp. 5
1 When it is not possible to collect the minimum volume for the test, please contact CGC Genetics
2 Maximum shipping time to ensure sample quality

Turnaround Time (Days)

- 60

CPT Codes

- 81404


- Rare diseases, Pediatrics, Pulmonology/Pneumology

CGC Reference

- 426

Associated Tests

Ondine syndrome (deletion/duplication analysis on PHOX2B gene)
Congenital central hypoventilation syndrome (frequent mutation - PARMs- on PHOX2B gene)
OncoRisk (NGS panel for 48 genes, including CNV analysis)
Neuroblastoma (NGS panel based on disease exome of 3 genes)
OncoRisk Expanded (NGS panel for 96 genes, including CNVs analysis)