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

Sanger sequencing


Specimen Requirements


Descriptive Volume /
Concentration 1
Container Transport
temperature
Sample
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

Specialties

- 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)
Central hypoventilation syndrome (NGS panel of 6 genes)
OncoRisk Expanded (NGS panel for 89 genes, including CNV analysis)