Congenital Central Hypoventilation Syndrome (CCHS) via the PHOX2B Gene

Casandra

Casandra Test Code PG53467Version 1 (DRAFT)

Performing Lab

Lab Prevention GeneticsLab Test ID 8967CPT Code 81479

Congenital Central Hypoventilation Syndrome (CCHS) via the PHOX2B Gene

Clinical Use

Use

This test is designed for individuals who have clinical or suspected Congenital Central Hypoventilation Syndrome (CCHS). Symptoms may manifest in the first 30 days of life, known as neonatal onset, or later. Individuals with neuroblastoma or Hirschsprung's disease who show symptoms of CCHS may also benefit from this test. The test aims to accurately detect variations in the PHOX2B gene that are known to cause CCHS, allowing for a clearer diagnosis and potential treatment pathways.

Special Instructions

This test utilizes a comprehensive Next Generation Sequencing (NGS) with Copy Number Variation (CNV) detection, available on either an Exome or Genome Platform, to thoroughly analyze potential genetic anomalies associated with CCHS. For faster processing, a STAT option is available, which provides results in 7-16 days. When ordering, please ensure all required documentation is completed and specimens are appropriately labeled and shipped following provided instructions.

Limitations

The test may not detect all genetic anomalies associated with PHOX2B, particularly deep intronic or regulatory region variants not covered by exome or genome platforms. Structural rearrangements and low-level mosaicism may also evade detection. Environmental or other genetic factors may contribute to CCHS risk and are not assessed with this test, possibly resulting in false negatives. Accurate results depend on the quality and integrity of the DNA sample submitted.

Test Details

New York Approved

Methodology

NGS

Biomarkers

The analysis involves Next Generation Sequencing with CNV detection, targeting the PHOX2B gene potentially causing CCHS. Utilizes DNA from either Exome or Genome Platforms.

NGS Analysis with CNV Detection