Neonatal respiratory distress syndrome [15 genes]

It occurs immediately after birth due to an abnormal respiratory transition in the adaptation from fetal life to neonatal life. In that moment a series of rapid physiological changes are required to replace the alveolar fluid for air, instill regular spontaneous respiration, and adapt the vascular flow. Within the hereditary causes of IRDS in newborns, the most frequent is the alteration in genes related with surfactant metabolism.

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Neonatal respiratory distress syndrome

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Technique: Exome

Turnaround time (TAT): 25 days

Ref. S-202008284

Neonatal respiratory distress syndrome: View panel
  • ABCA3
  • CSF2RA
  • CSF2RB
  • FOXF1
  • ITGA3
  • NKX2-1
  • SFTPA1
  • SFTPA2
  • SFTPB
  • SFTPC
  • SFTPD
  • ATP11A
  • CHPT1
  • LPCAT1
  • PCYT1B

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.