Pulmonary alveolar proteinosis [9 genes]

Alveolar proteinosis is characterized by the buildup of lipoprotein material inside alveoli, with pulmonary infiltration and respiratory failure. In cases of inherited origin, mutations have been identified in various genes. The congenital form is associated with mutations in the genes related with surfactant metabolism (SFTPB, SFTPC, ABCA3, NKX2-1, MARS, and SLC7A7),while in the infant non-neonate forms and in hereditary forms in adults, mutations in regulator genes of the granulocyte-monocyte colony-stimulating factor (CSF2RA and CSF2RB) have been described.

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Pulmonary alveolar proteinosis

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Technique: Exome

Turnaround time (TAT): 25 days

Ref. S-202008285

Pulmonary alveolar proteinosis: View panel
  • ABCA3
  • CSF2RA
  • CSF2RB
  • FOXF1
  • MARS
  • NKX2-1
  • SFTPB
  • SFTPC
  • SLC7A7

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.