Respiratory system
About this category
Gene damage associated with respiratory dysfunction causes diseases with a very varied course. The effects of mutations in genes include: pulmonary fibrosis and bronchiectasis, the most common cause of which is cystic fibrosis and primary ciliary dyskinesia.
Disease diagnostics, based on the highest-quality genetic test using the next-generation sequencing method, enables appropriate therapy for the patient. All tests are performed using the next-generation sequencing method, using Illumina sequencers. Our tests are subject to internal and external control. The laboratory is subject to continuous external quality control.
Panels in this category
6 panels-
Bronchiectasis
24 genesARHGEF1; C11orf70; CCDC39; CCDC40; CFTR; DNAAF1; DNAAF2; DNAH11; DNAH5; DNAH9; DNAI1; DNAI2; DNAL1; GAS2L2; MCIDAS; NME8; PIK3CD; POLD1; RSPH4A; RSPH9; SCNN1A; SCNN1B; SCNN1G; STK36
2194 PLNDetails -
Central apnea and hypoventilation
21 genesASCL1; BDNF; CHAT; CHRNA1; CHRNB1; CHRND; CHRNE; COLQ; ECE1; EDN3; GDNF; GFRA1; GLRA1; MECP2; PHOX2A; PHOX2B; RAPSN; RET; SCN4A; SLC6A5; ZEB2
2194 PLNDetails -
Hermansky-Pudlak syndrome
23 genesABCA3; AP3B1; AP3D1; BLOC1S3; BLOC1S6; DKC1; DTNBP1; GPR143; HPS1; HPS3; HPS4; HPS5; HPS6; LYST; OCA2; SFTPB; SFTPC; SLC45A2; TERC; TERT; TINF2; TYR; TYRP1
2194 PLNDetails -
Interstitial lung diseases
34 genesABCA3; CSF2RB; DKC1; ELMOD2; FAM111B; FOXF1; HPS1; HPS4; ITGA3; MARS; NAF1; NF1; NKX2-1; NPC1; NPC2; PARN; RTEL1; SFTPA1; SFTPA2; SFTPB; SFTPC; SFTPD; SLC34A2; SLC7A7; SMAD4; SMPD1; STAT3; STRA6; TERC; TERT; TINF2; TMEM173; TSC1; TSC2
2194 PLNDetails -
Neonatal respiratory distress syndrome
6 genesABCA3; CSF2RB; FOXF1; NKX2-1; SFTPB; SFTPC
2194 PLNDetails -
Primary cilliary dyskinesia
49 genesARMC4; C11orf70; C21orf59; CCDC103; CCDC114; CCDC151; CCDC39; CCDC40; CCDC65; CCNO; CENPF; CFTR; DNAAF1; DNAAF2; DNAAF3; DNAH1; DNAH11; DNAH5; DNAH8; DNAH9; DNAI1; DNAI2; DNAJB13; DNAL1; DRC1; DYX1C1; FOXJ1; GAS2L2; GAS8; HEATR2; HYDIN; INVS; LRRC56; LRRC6; MCIDAS; NEK10; NME8; OFD1; PIH1D3; RPGR; RSPH1; RSPH3; RSPH4A; RSPH9; SPAG1; STK36; TTC12; TTC25; ZMYND10
2194 PLNDetails
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