Idiopathic Pulmonary Fibrosis (IPF) is a specific form of chronic, progressive lung disease defined as the presence of progressive lung scarring in the form of fibrosing interstitial pneumonia of unknown cause with the histopathological finding of usual interstitial pneumonia (UIP). Although the etiology is unknown, there probably is an effect of endogenous and exogenous micro-environmental factors in subjects together with genetic predisposition. All of this causes repetitive micro-injury to the lung tissue and vasculature, triggering and inflammatory response and ultimately fibrosis. It occurs primarily in older adults, and the progressive lung scarring over time results in reduced oxygen intake.
The Igenomix Idiopathic Pulmonary Fibrosis Precision Panel can be used as a diagnostic tool ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes.
The Igenomix Idiopathic Pulmonary Fibrosis Precision Panel is indicated in those cases where there is a clinical suspicion of IPF with or without the following manifestations during at least six months:
The clinical utility of this panel is:
GENE | OMIM DISEASES | INHERITANCE* | % GENE COVERAGE (20X) | HGMD** |
ABCA3 | Surfactant Metabolism Dysfunction, Pulmonary, Idiopathic Pulmonary Fibrosis, Infant Acute Respiratory Distress Syndrome | AR | 100 | 286 of 289 |
AP3B1 | Hermansky-Pudlak Syndrome | AR | 100 | 34 of 35 |
ATP11A | Idiopathic Pulmonary Fibrosis |
| 99.97 | NA of NA |
DKC1 | X-linked Dyskeratosis Congenita, Hoyeraal-Hreidarsson Syndrome | X,XR,G | 100 | NA of NA |
DPP9 | Idiopathic Pulmonary Fibrosis |
| 93.97 | 1 of 1 |
DSP | Carvajal Syndrome, Idiopathic Pulmonary Fibrosis | AD,AR | 99.91 | 366 of 369 |
FAM13A | Idiopathic Pulmonary Fibrosis |
| 99.91 | NA of NA |
HPS1 | Hermansky-Pudlak Syndrome | AR | 99.98 | 68 of 68 |
HPS4 | Hermansky-Pudlak Syndrome | AR | 99.7 | 30 of 30 |
MUC5B | Idiopathic Pulmonary Fibrosis | AD | 99.89 | 12 of 12 |
NKX2-1 | Brain-Lung-Thyroid Syndrome | AD | 97.04 | 115 of 123 |
PARN | Autosomal Recessive Dyskeratosis Congenita, Pulmonary Fibrosis And/Or Bone Marrow Failure, Hoyeraal-Hreidarsson Syndrome, Idiopathic Pulmonary Fibrosis | AD,AR | 99.98 | 33 of 33 |
RTEL1 | Autosomal Recessive Dyskeratosis Congenita, Pulmonary Fibrosis And/Or Bone Marrow Failure, Hoyeraal-Hreidarsson Syndrome, Idiopathic Pulmonary Fibrosis | AD,AR | 99.73 | 127 of 131 |
SFTPA1 | Idiopathic Pulmonary Fibrosis |
| 100 | 4 of 4 |
SFTPA2 | Idiopathic Pulmonary Fibrosis | AD | 99.98 | 6 of 6 |
SFTPC | Idiopathic Pulmonary Fibrosis, Surfactant Metabolism Dysfunction, Infant Acute Respiratory Distress Syndrome | AD | 99.84 | 83 of 83 |
STN1 | Idiopathic Pulmonary Fibrosis | AR | 99.87 | NA of NA |
TERC | Autosomal Dominant Dyskeratosis Congenita, Pulmonary Fibrosis And/Or Bone Marrow Failure, Idiopathic Pulmonary Fibrosis | AD | NA | NA |
TERT | Autosomal Dominant Dyskeratosis Congenita, Pulmonary Fibrosis And/Or Bone Marrow Failure, Idiopathic Pulmonary Fibrosis, Hoyeraal-Hreidarsson Syndrome | AD,AR | 99.09 | 194 of 197 |
TINF2 | Autosomal Dominant Dyskeratosis Congenita, Revesz Syndrome, Hoyeraal-Hreidarsson Syndrome | AD | 99.94 | 47 of 47 |
* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial
** HGMD: Number of clinically relevant mutations according to HGMD
Martinez, F. J., Collard, H. R., Pardo, A., Raghu, G., Richeldi, L., Selman, M., Swigris, J. J., Taniguchi, H., & Wells, A. U. (2017). Idiopathic pulmonary fibrosis. Nature reviews. Disease primers, 3, 17074. https://doi.org/10.1038/nrdp.2017.74
Sgalla, G., Iovene, B., Calvello, M., Ori, M., Varone, F., & Richeldi, L. (2018). Idiopathic pulmonary fibrosis: pathogenesis and management. Respiratory research, 19(1), 32. https://doi.org/10.1186/s12931-018-0730-2
Xaubet, A., Ancochea, J., & Molina-Molina, M. (2017). Idiopathic pulmonary fibrosis. Fibrosis pulmonar idiopática. Medicina clinica, 148(4), 170–175. https://doi.org/10.1016/j.medcli.2016.11.004
Sharif R. (2017). Overview of idiopathic pulmonary fibrosis (IPF) and evidence-based guidelines. The American journal of managed care, 23(11 Suppl), S176–S182.
Glass, D. S., Grossfeld, D., Renna, H. A., Agarwala, P., Spiegler, P., Kasselman, L. J., Glass, A. D., DeLeon, J., & Reiss, A. B. (2020). Idiopathic pulmonary fibrosis: Molecular mechanisms and potential treatment approaches. Respiratory investigation, 58(5), 320–335. https://doi.org/10.1016/j.resinv.2020.04.002
Idiopathic Pulmonary Fibrosis NGS Panel – Tests – GTR – NCBI. (2021). Retrieved 22 February 2021, from https://www.ncbi.nlm.nih.gov/gtr/tests/324884.5/
Raghu, G., Collard, H., Egan, J., Martinez, F., Behr, J., & Brown, K. et al. (2011). An Official ATS/ERS/JRS/ALAT Statement: Idiopathic Pulmonary Fibrosis: Evidence-based Guidelines for Diagnosis and Management. American Journal Of Respiratory And Critical Care Medicine, 183(6), 788-824. doi: 10.1164/rccm.2009-040gl
