Interstitial lung disease and surfactant dysfunction [68 genes]

Interstitial Lung Diseases (ILD) comprehend a heterogeneous group of diseases that are characterized by presenting different degrees of inflammation and fibrosis in lung tissue, usually irreversible and progressive. The newborn and child forms have different characteristics than those observed in adults, both in their clinical presentation as well as in their prognosis. In some of these entities a genetic origin was identified. Defects in various genes have been related with the development of these diseases, especially the ones related with surfactant metabolism and those related with DNA repair mechanisms.

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Interstitial lung disease and surfactant dysfunction

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Technique: Exome

Turnaround time (TAT): 25 days

Ref. S-202008283

Interstitial lung disease and surfactant dysfunction: View panel

The panel covers the genetic study of interstitial lung disease from a global perspective. We have included genes related with the most frequent entities, due to alterations in the synthesis and processing of the surfactant, and to the dysfunction of telomerase activity, along with other genes related with less frequent diseases that can present complex genotypes, on occasions associated with pulmonary fibrosis.

  • ABCA3
  • ACD
  • AP3B1
  • BLOC1S3
  • BLOC1S6
  • COPA
  • CSF2RA
  • CSF2RB
  • CTC1
  • DKC1
  • DPP9
  • DSP
  • DTNBP1
  • ELMOD2
  • FLCN
  • FLNA
  • FOXF1
  • GAR1
  • GRHL2
  • HPS1
  • HPS3
  • HPS4
  • HPS5
  • HPS6
  • LRBA
  • MARS
  • MUC5B
  • NF1
  • NHP2
  • NKX2-1
  • NOP10
  • NPC1
  • NPC2
  • PARN
  • RTEL1
  • SERPINA1
  • SFTPA1
  • SFTPA2
  • SFTPB
  • SFTPC
  • SFTPD
  • SLC34A2
  • SLC7A7
  • SMPD1
  • STAT3
  • STN1
  • TBX4
  • TERC
  • TERT
  • TINF2
  • TOLLIP
  • TSC1
  • TSC2
  • TYR
  • TYRP1
  • USB1
  • WRAP53
  • AKAP13
  • FAM13A
  • ITGA3
  • LIG4
  • LPCAT1
  • NAF1
  • OCA2
  • PCYT1B
  • TMEM173
  • ATP11A
  • CHPT1

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.

References

  1. R. Sousa, P. Caetano Mota, N. Melo, H.N. Bastos, E. Padrão, J.M. Pereira, R. Cunha, C. Souto Moura, S. Guimarães, A. Morais. Heterozygous TERT gene mutation associated with familial idiopathic pulmonary fibrosis. Respiratory Medicine Case Reports 26 (2019) 118–122.
  2. lave´ Petrovski, et al. An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis. American Journal of Respiratory and Critical Care Medicine, Volume 196, Number 1 | July 1 2017.
  3. Newton CA, Molyneaux PL and Oldham JM (2018) Clinical Genetics in Interstitial Lung Disease. Front. Med. 5:116. Sarah G. Chu, MD1 Souheil El-Chemaly, MD, MPH1 Ivan O. Rosas, MD1.Genetics and Idiopathic Interstitial Pneumonias. Semin Respir Crit Care Med 2016;37:321–330
  4. Christin S. Kuo, MD1 and Lisa R. Young,Interstitial lung disease in children. Curr Opin Pediatr. 2014 June; 26(3): 320–327
  5. Lawrence M. Nogee Interstitial lung disease in newborns. Semin Fetal Neonatal Med. 2017 August; 22(4): 227–233