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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessBronchiectases, differential diagnosis


Short information

A panel containing 1 guideline-curated gene and altogether 10 curated genes for the comprehensive analysis of the genetically caused forms of bronchiectases

Number of genes
8 Accredited laboratory test
Examined sequence length
27,4 kb (Core-/Core-canditate-Genes)
31,7 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications




Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
SCNN1B1923NM_000336.3AD, AR
STAT32313NM_139276.3AD, Mult

Informations about the disease

Clinical Comment

Bronchiectasis results from deregulated inflammatory responses and recurrent infections leading to progressive lung injury. The vicious cycle hypothesis assumes impairment of mucociliary clearance by initial events leading to airway infections, followed by further impairments of mucociliary function, proliferation of bacteria and further inflammation. These sequelae include irreversible dilation of the bronchi and bronchioles due to destruction of the muscle cells and elastic connective tissue of the lung epithelium. Various causes lead to the complex interaction of host and environmental factors. Impaired mucociliary clearance may be due to monogenetic diseases such as cystic fibrosis, and bronchiectasis most commonly occurs in the setting of this condition. In bronchiectasis unrelated to cystic fibrosis, numerous underlying genetic defects have been identified, such as congenital malformations (e.g. familial congenital bronchiectasis, tracheobronchomegaly), primary ciliary dyskinesia in addition to disorders of humoral immunity (hyperimmunoglobulin E syndrome, primary hypogammaglobulinemia, X-linked agammaglobulinemia). In addition, α1-antitrypsin deficiency is characterized by the development of chronic obstructive pulmonary disease partly including bronchiectasis development. Finally, also inherited connective tissue disorders (Marfan and Ehlers-Danlos syndromes) may contribute to bronchiectasis formation. Among these diverse monogenic disorders, all classical inheritance patterns are observed. Nevertheless, the cause of bronchiectasis remains unexplained in up to 40% of cases. It can be assumed that multiple genetic and environmental influences contribute to disease development in these idiopathic cases. Consequently, a negative molecular genetic result may not exclude the clinical diagnosis.

Reference: https://doi.org/10.1111/resp.13509


  • Agammaglobulinemia, XL 1 (BTK)
  • Allelic: Congenital bilateral absence of vas deferens (CFTR)
  • Allelic: Cystic fibrosis (CFTR)
  • Allelic: Hemorrhagic diathesis due to antithrombin Pittsburgh (SERPINA1)
  • Allelic: Liddle syndrome 1 (SCNN1B)
  • Allelic: Liddle syndrome 2 (SCNN1G)
  • Allelic: Liddle syndrome 3 (SCNN1A)
  • Allelic: Pseudohypoaldosteronism, type I (SCNN1A)
  • Allelic: Pseudohypoaldosteronism, type I (SCNN1B)
  • Allelic: Pseudohypoaldosteronism, type I (SCNN1G)
  • Allelic: Sweat chloride elevation without CF (CFTR)
  • Autoimmune disease, multisystem, infantile-onset, 1 (STAT3)
  • Bronchiectasis with/-out elevated sweat chloride 1 (SCNN1B)
  • Bronchiectasis with/-out elevated sweat chloride 2 (SCNN1A)
  • Bronchiectasis with/-out elevated sweat chloride 3 (SCNN1G)
  • Ciliary dyskinesia, primary, 3, with/-out situs inversus (DNAH5)
  • Emphysema due to AAT deficiency (SERPINA1)
  • Emphysema-cirrhosis, due to AAT deficiency (SERPINA1)
  • IgE recurrent infection syndrome (STAT3)
  • Immunodeficiency 14 (PIK3CD)
  • Isolated growth hormone deficiency, type III, with agammaglobulinemia (BTK)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Mult
  • XLR
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined