| Test Code | 1580 |
| Turnaround Time (TAT) | 2-4 weeks |
| Number of Genes | 1 |
Genetic testing of PHOX2B will detect a mutation in >99% of people with CCHS (clinical sensitivity). Ambry's PHOX2B analysis can detect >99.9% of described mutations in the gene, when present (analytical sensitivity).
Our PHOX2B full gene sequence analysis is performed by PCR-based double-stranded automated sequencing in the sense and antisense directions for exons 1-3 of the PHOX2B gene, plus at least 5 bases into the 5’ and 3’ ends of all the introns. Alanine repeat numbers for the commonly-expanded region in exon 3 are determined and reported in all cases.