Central Hypoventilation Syndrome Panel

Central Hypoventilation Syndrome Panel

  • Central hypoventilation syndrome is a disorder that affects breathing that can result in a shortage of oxygen and buildup of carbon dioxide in the blood. Generally, individuals affected will take shallow breaths and hypoventilate. In a healthy individual, the nervous system controls involuntary body processes that would react to such an imbalance but this reaction is impaired in individuals with CCHS (1). Some symptoms include abnormal pupils, feeding difficulty, absent or impaired bowel function, but most importantly poor breathing or complete lack of spontaneous breathing (2, 3). A milder later-onset presentation of the syndrome can be seen in toddlers, children and adults. All individuals with CCHS may have a mutation in the PHOX2B gene which plays an important role in the prenatal development of the autonomic nervous system (2). The condition affects females and males in equal numbers, though the true prevalence is unknown there are reportedly around 1,000 cases worldwide. The condition itself can easily go unrecognized or misdiagnosed, thus it is difficult to estimate the true frequency of CCHS in the general population (2).
  • Genes (7): ASCL1, BDNF, EDN3, GDNF, HOXA1, PHOX2B, and RET
    Test Code: 5031
    Clinical Indications:
    • Molecular confirmation of a clinical diagnosis in symptomatic patients.
    • Assessment for at-risk family members
    Test Info Sheet: Central Hypoventilation Syndrome Panel
    Requisition: Contact ApolloGen Diagnostic Laboratory
  • Turn-Around Time: 4 Weeks
    Preferred Specimen: 3-5 mL Whole Blood – Lavender Top Tube
    Other Specimens: See details here
  • CPT Codes: 81404×1, 81406×1, 81479×5
    Pricing: Please contact us at (949) 916-8886 or inquiries@apollogen.com
  • Methodology: Next-Generation Sequencing (NGS)
    Related Tests:
    Hypoventilation Syndrome Panel
  • References:
    1. https://ghr.nlm.nih.gov/condition/congenital-central-hypoventilation-syndrome
    2. http://rarediseases.org/rare-diseases/congenital-central-hypoventilation-syndrome/
    3. http://www.hopkinsmedicine.org/healthlibrary/conditions/adult/pediatrics/congenital_central_hypoventilation_syndrome_22,CongenitalCentralHypoventilationSyndrome/

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