| Test Code | 1580 |
| Turnaround Time (TAT) | 2-4 weeks |
| Number of Genes | 1 |
for all blood relatives of patients who undergo full single gene sequencing, multigene panel testing or exome sequencing at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. No-cost testing of blood relatives must be completed within 90 days of the original report date. Whenever possible, more closely related relatives should be tested before more distant relatives.
Order NowGenetic 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.