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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 containing 1 guideline-curated core gene, 6 core candidate genes and altogether 68 curated genes according to the clinical signs

ID
MP0020
Number of genes
46 Accredited laboratory test
Examined sequence length
13,3 kb (Core-/Core-canditate-Genes)
148,2 kb (Extended panel: incl. additional genes)
Analysis Duration
auf Anfrage
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
CA121065NM_001218.5AR
CFTR4443NM_000492.4AR
IL2RG1110NM_000206.3XL
SBDS753NM_016038.4AR
SCNN1A2010NM_001038.6AD
SCNN1B1923NM_000336.3AD, AR
SCNN1G1950NM_001039.4AD
CCDC103729NM_001258395.2AR
CCDC392826NM_181426.2AR
CCDC403429NM_017950.4AR
CCDC651455NM_033124.5AR
CCNO1053NM_021147.5AR
CFAP2212887NM_001271049.2AR
DNAAF12178NM_178452.6AR
DNAAF111401NM_012472.6AR
DNAAF22370NM_018139.3AR
DNAAF31827NM_001256714.1AR
DNAAF41131NM_001033559.3AR
DNAAF52568NM_017802.4AR
DNAAF6651NM_001169154.2XLR
DNAH112798NM_015512.5AR
DNAH1113551NM_001277115.2AR
DNAH513875NM_001369.3AR
DNAH814527NM_001206927.2AR
DNAH913461NM_001372.4AR
DNAI12100NM_012144.4AR
DNAI21782NM_001172810.3AR
DNAJB131537NM_153614.4AR
DNAL1573NM_031427.4AR
DRC12223NM_145038.5AR
FOXJ11266NM_001454.4AD
GAS2L22643NM_139285.4AR
GAS81448NM_001481.3AR
LRRC561640NM_198075.4AR
MCIDAS1165NM_001190787.3AR
NME81767NM_016616.5AR
ODAD41833NM_031421.5AR
OFD13039NM_003611.3XLR
RSPH1930NM_080860.4AR
RSPH31691NM_031924.8AR
RSPH4A2151NM_001010892.3AR
RSPH9921NM_001193341.2AR
SPAG12781NM_003114.5AR
SPEF25469NM_024867.4AR
STK363885NM_001243313.2AR
ZMYND101323NM_015896.4AR

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
  • Agammaglobulinemia 7, AR (PIK3R1)
  • 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: Cone-rod dystrophy, XL, 1 (RPGR)
  • 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: Macular degeneration, XL atrophic (RPGR)
  • 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: Retinitis pigmentosa 3 (RPGR)
  • Allelic: Roifman-Chitayat syndrome, digenic (PIK3CD)
  • Allelic: SHORT syndrome (PIK3R1)
  • 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, 44 (NEK10)
  • Ciliary dyskinesia, primary, 45 (TTC12)
  • Ciliary dyskinesia, primary, 48, without situs inversus (NME5)
  • Ciliary dyskinesia, primary, 49, without situs inversus (CFAP74)
  • Ciliary dyskinesia, primary, 5 (HYDIN)
  • Ciliary dyskinesia, primary, 6 (NME8)
  • Ciliary dyskinesia, primary, 9, with/-out situs inversus (DNAI2)
  • Combined cellular and humoral immune defects with granulomas (RAG1)
  • Combined cellular and humoral immune defects with granulomas (RAG2)
  • Combined immunodeficiency, XL, moderate (IL2RG)
  • Congenital bilateral absence of vas deferens (CFTR)
  • Cystic fibrosis (CFTR)
  • Hyperchlorhidrosis, isolated (CA12)
  • Immunodeficiency 14A, AD (PIK3CD)
  • Immunodeficiency 14B, AR (PIK3CD)
  • Immunodeficiency 36 (PIK3R1)
  • Immunodeficiency, common variable, 10 (NFKB2)
  • Immunodeficiency, common variable, 12 (NFKB1)
  • Joubert syndrome 10 (OFD1)
  • Motile ciliopathy laterality disorder [panelapp] (DAW1)
  • Omenn syndrome (RAG1)
  • Omenn syndrome (RAG2)
  • Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (TAPT1)
  • Primary ciliary dyskinesia, asthenoteratozoospermia (BRWD1)
  • Respiratory infections, recurrent, failure to thrive +/- diarrhea (AGR2)
  • Retinitis pigmentosa, XL, sinorespiratory infections +/- deafness (RPGR)
  • Severe combined immunodeficiency, B cell-negative (RAG1)
  • Severe combined immunodeficiency, B cell-negative (RAG2)
  • Severe combined immunodeficiency, XL (IL2RG)
  • Shwachman-Diamond syndrome (SBDS)
  • Spermatogenic failure 46 (DNAH8)
  • Sweat chloride elevation without CF (CFTR)
  • a/b T-cell lymphopenia, g/d T-cell expansion, severe cytomegalovirus infection, autoimmunity (RAG1)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined