©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessCystische Fibrose, Differentialdiagnose

Summary

Short information

Comprehensive differential diagnostic panel for cystic fibrosis comprising 1 guideline-curated and altogether 52 curated genes according to the clinical signs

ID
MP0020
Number of genes
47 Accredited laboratory test
Examined sequence length
13,3 kb (Core-/Base-Genes)
151,0 kb (Extended panel)
Analysis Duration
auf Anfrage
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
CA121065AR
CFTR4443AD and/or AR
IL2RG1110XLR
SBDS753AR
SCNN1A2010AD and/or AR
SCNN1B1923AD and/or AR
SCNN1G1950AD and/or AR
CCDC103729AR
CCDC392826AR
CCDC403429AR
CCDC651455AR
CCNO1053AR
CFAP2212887AR
DNAAF12178AR
DNAAF111401AR
DNAAF22370AR
DNAAF31827AR
DNAAF41131AD and/or AR
DNAAF52568AR
DNAAF6651XLR
DNAH112798AR
DNAH1113551AR
DNAH513875AR
DNAH814527AR
DNAH913461AR
DNAI12100AR
DNAI21782AR
DNAJB131537AR
DNAL1573AR
DRC12223AR
FOXJ11266AD
GAS2L22643AR
GAS81448AR
HYDIN2853AR
LRRC561640AR
MCIDAS1165AR
NME81767AR
ODAD41833AR
OFD13039XL
RSPH1930AR
RSPH31691AR
RSPH4A2151AR
RSPH9921AR
SPAG12781AR
SPEF25469AR
STK363885AR
ZMYND101323AR

Informations about the disease

Clinical Comment

Cystic fibrosis (CF), when fully developed, is associated with severe affections of the lungs, intestinal tract and all exocrine glands. In CF patients, the glandular secretions are thickened obstructing the draining passages, especially in the lungs and pancreas. Yet CF symptoms can vary considerably, so that individual patients are not diagnosed until adulthood or the disease only leads to infertility in males (Congenital Bilateral Aplasia of the Vas deferens; CBAVD). On the other hand, first signs of the disease may already appear at birth. Differential diagnosis includes a wide range of diseases with very different symptoms: general failure to thrive and grow, dysphagia with aspiration or gastroesophageal reflux. gastroesophageal reflux, immunodeficiency syndromes, asthma, bronchiectasis, primary ciliary dyskinesia, Shwachman-Diamond syndrome (pancreatic dysfunction, hematologic/cytopenic symptoms), biliary congestion, obstructive azoospermia, etc. Consequently, a comprehensive gene panel is available for CF differential diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1250/

 

Synonyms
  • Alias: Mucoviscidosis
  • Alias: Mukoviszidose
  • Alias: Zystische Fibrose
  • Allelic: Aplastic anemia, susceptibility to (SBDS)
  • Allelic: Bronchiectasis with/without elevated sweat chloride 1, modifier of (CFTR)
  • Allelic: Congenital bilateral absence of vas deferens (CFTR)
  • Allelic: Dyslexia, susceptibility to, 1 (DNAAF4)
  • Allelic: Hypertrypsinemia, neonatal (CFTR)
  • Allelic: Liddle syndrome 1 (SCNN1B)
  • Allelic: Liddle syndrome 2 (SCNN1G)
  • Allelic: Liddle syndrome 3 (SCNN1A)
  • Allelic: Orofaciodigital syndrome I (OFD1)
  • Allelic: Pancreatitis, hereditary (CFTR)
  • Allelic: Pseudohypoaldosteronism, type I (SCNN1A)
  • Allelic: Pseudohypoaldosteronism, type I (SCNN1B)
  • Allelic: Pseudohypoaldosteronism, type I (SCNN1G)
  • Allelic: Retinitis pigmentosa 23 (OFD1)
  • Allelic: Simpson-Golabi-Behmel syndrome, type 2 (OFD1)
  • Allelic: Spermatogenic failure 18 (DNAH1)
  • Allelic: Spermatogenic failure 43 (SPEF2)
  • Allelic: Sweat chloride elevation without CF (CFTR)
  • Bronchiectasis with or without elevated sweat chloride 1, modifier of (CFTR)
  • Bronchiectasis with or without elevated sweat chloride 3 (SCNN1G)
  • Bronchiectasis with/-out elevated sweat chloride 1 (SCNN1B)
  • Bronchiectasis with/-out elevated sweat chloride 2 (SCNN1A)
  • Ciliary dyskinesia, primary, 1, with/-out situs inversus (DNAI1)
  • Ciliary dyskinesia, primary, 10 (DNAAF2)
  • Ciliary dyskinesia, primary, 11 (RSPH4A)
  • Ciliary dyskinesia, primary, 12 (RSPH9)
  • Ciliary dyskinesia, primary, 13 (DNAAF1)
  • Ciliary dyskinesia, primary, 14 (CCDC39)
  • Ciliary dyskinesia, primary, 15 (CCDC40)
  • Ciliary dyskinesia, primary, 16 (DNAL1)
  • Ciliary dyskinesia, primary, 17 (CCDC103)
  • Ciliary dyskinesia, primary, 18 (DNAAF5)
  • Ciliary dyskinesia, primary, 19 (LRCC6)
  • Ciliary dyskinesia, primary, 2 (DNAAF3)
  • Ciliary dyskinesia, primary, 20 (ODAD1)
  • Ciliary dyskinesia, primary, 21 (DRC1)
  • Ciliary dyskinesia, primary, 22 (ZMYND10)
  • Ciliary dyskinesia, primary, 23 (ODAD2)
  • Ciliary dyskinesia, primary, 24 (RSPH1)
  • Ciliary dyskinesia, primary, 25 (DNAAF4)
  • Ciliary dyskinesia, primary, 26 (CFAP298)
  • Ciliary dyskinesia, primary, 27 (CCDC65)
  • Ciliary dyskinesia, primary, 28 (SPAG1)
  • Ciliary dyskinesia, primary, 29 (CCNO)
  • Ciliary dyskinesia, primary, 3, with/-out situs inversus (DNAH5)
  • Ciliary dyskinesia, primary, 30 (ODAD3)
  • Ciliary dyskinesia, primary, 32 (RSPH3)
  • Ciliary dyskinesia, primary, 33 (GAS8)
  • Ciliary dyskinesia, primary, 34 (DNAJB13)
  • Ciliary dyskinesia, primary, 36, XL (PIH1D3)
  • Ciliary dyskinesia, primary, 37 (DNAH1)
  • Ciliary dyskinesia, primary, 38 (CFAP300)
  • Ciliary dyskinesia, primary, 39 (LRRC56)
  • Ciliary dyskinesia, primary, 40 (DNAH9)
  • Ciliary dyskinesia, primary, 41 (GAS2L2)
  • Ciliary dyskinesia, primary, 42 (MCIDAS)
  • Ciliary dyskinesia, primary, 43 (FOXJ1)
  • Ciliary dyskinesia, primary, 5 (HYDIN)
  • Ciliary dyskinesia, primary, 6 (NME8)
  • Ciliary dyskinesia, primary, 9, with/-out situs inversus (DNAI2)
  • Combined immunodeficiency, XL, moderate (IL2RG)
  • Congenital bilateral absence of vas deferens (CFTR)
  • Cystic Fibrosis (CFTR)
  • Cystic fibrosis (CFTR)
  • Hyperchlorhidrosis, isolated (CA12)
  • Joubert syndrome 10 (OFD1)
  • Severe combined immunodeficiency, XL (IL2RG)
  • Shwachman-Diamond syndrome (SBDS)
  • Spermatogenic failure 46 (DNAH8)
  • Sweat chloride elevation without CF (CFTR)
Heredity, heredity patterns etc.
  • AD
  • AD and/or AR
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
E84.-

Bioinformatics and clinical interpretation

No text defined