Bronchiectasis is a disease characterised by irreversible widening of the medium-sized airways, with inflammation, chronic bacterial infection and destruction of the bronchial walls[76]. Examples of bronchiectasis diseases include Cystic Fibrosis (CF) and Primary Ciliary Dyskinesia (PCD).

The ‘All Bronchiectasis genes’ panel encompasses the 48 genes associated with the bronchiectasis disorders listed below.

Cystic fibrosis

Targeted mutation analysis of 36 most common CFTR mutations in EU populations

Legacy name cDNA variant Protein variant 
3120+1G>A c.2988+1G>A n/a
711+1G>T  c.579+1G>T  n/a 
621+1G>T  c.489+1G>T  n/a 
1717-1G>A  c.1585-1G>A  n/a 
CFTRdele2,3(21kb)  c.54-5940_273+10250del21kb  n/a 
3849+10kbC>T c.3717+12181C>T  n/a 
2789+5G>A  c.2657+5G>A  n/a 
1898+1G>A  c.1766+1G>A  n/a 
G542X  c.1642G>T  p.(Gly542Ter) 
G85E  c.254G>A  p.(Gly85Glu) 
Y1092X(C>A) c.3276C>A  p.(Tyr1092Ter) 
G551D c.1652G>A  p.(Gly551Asp) 
R553X  c.1657C>T  p.(Arg553Ter) 
3659delC  c.3528delC  p.(Lys1177SerfsTer15) 
N1303K c.3909C>G p.(Asn1303Lys) 
R560T c.1679G>C p.(Arg560Thr)
R117H  c.350G>A  p.(Arg117His) 
R1162X  c.3484C>T  p.(Arg1162Ter) 
L1077P  c.3230T>C  p.(Leu1077Pro)
R117C c.349C>T p.(Arg117Cys)
R1066C c.3197G>A p.(Arg1066His)
L1065P  c.3194T>C  p.(Leu1065Pro) 
W1282X  c.3846G>A  p.(Trp1282Ter) 
R347H  c.1040G>A  p.(Arg347His) 
R347P  c1040G>C  p.(Arg347Pro) 
I507del c.1519_1521delATC  p.(Ile507del) 
T338I c.1013C>T p.(Thr338Ile)
F508del c.1521_1523delCTT  p.(Phe508del) 
I336K  c.1007T>A  p.(Ile336Lys) 
1677delTA  c.1545_1546delTA  p.(Tyr515Ter) 
R334W  c.1000C>T  p.(Arg334Trp) 
3272-26A>G  c.3140-26A>G  n/a 
1078delT  c.948delT  p.(Phe316Leufs) 
2183AA>G c.2051_2052delAAinsG  p.(Lys684SerfsTer38)
2184insA c.2052_2053insA  p.(Gln685ThrfsTer4) 
2143delT c.2012delT  p.(Leu671Ter) 

Reference transcript: NM_000492.3. The A of the translation initiation codon ATG is base 1.

The 5T/7T/9T and 9TG/10TG/11TG/12TG/13TG alleles of Intron 8 Poly-T tract are also detectable by this kit. These alleles are only reported in clinically appropriate situations: The 5T;12TG and 5T;13TG alleles cause reduction in the splicing efficiency of exon 9, and act as variants of varying clinical consequence. When in trans with a known pathogenic variant, they may cause CF or a CFTR-related disorder, or be associated with no clinical symptoms. The 5T allele may also modify ‘mild’ CF variants (eg: p.(Arg117His) when in cis to a more severe phenotype.

Sequencing of the CFTR gene (exons)

Gene name Transcript Clinical sensitivity
CFTR ENST00000003084  

Non-CF Bronchiectasis

Gene name Transcript Clinical sensitivity
SCNN1D ENST00000379116  
SCNN1A  ENST00000360168   
SCNN1B  ENST00000343070   
SCNN1G  ENST00000300061   

Primary Ciliary Dyskinesia (PCD)

Gene name Transcript Clinical sensitivity
RSPH4A (RSHL3) ENST00000229554 1%-2% [82,83]
DNAI1  ENST00000242317 2-10% [84,87]
DNAH5 ENST00000265104  15-25% [86-89]
DNAI2 ENST00000582036  2% [86,90]
DNAH11  ENST00000409508  6-9% [86,92]
DNAAF2 ENST00000298292  <1-2% [86,92
CCDC39 ENST00000442201  4-9% [86,93
CCDC40  ENST00000397545  3-4% [86,93
ZMYND10 ENST00000231749  <2-4% [94]
SPAG1 ENST00000388798 <4% [95
RSPH1 (TSGA2) ENST00000291536  2% [82]
RSPH9 ENST00000372165 <1% [82]
MCIDAS ENST00000513312  <1% [96]
DNAAF3 ENST00000527223 

<3% [97

LRRC6 ENST00000519595 1% [92
CCNO ENST00000282572  19% [98
CCDC151 ENST00000356392 <3% [99
CCDC114 ENST00000315396  <2% [100]
CCDC103 ENST00000417826  <4% [101]
C21orf59 ENST00000290155  <1% [102
DRC1 (CCDC164) ENST00000288710  <1% [102
ARMC4  ENST00000305242 <3% [103]
DNAAF1 ENST00000553645  n/a 
DRC1 (LRRC50)  ENST00000378553  1-2%
C11orf70  ENST00000434758.2 n/a 
CCDC65 ENST00000320516   
CENPF  ENST00000366955   
CFAP46  ENST00000368586   
DNAH6 ENST00000389394  
DNAJB13 (TSARG6) ENST00000339764  
DNAL1 (LC1) ENST00000553645  n/a 
DYX1C1  ENST00000321149 n/a
GAS8  ENST00000268699   
HEARTR2 ENST00000297440  n/a
HYDIN ENST00000393567  n/a 
NME8 (TXNDC3) ENST00000199447  n/a
PIH1D3 ENST00000535523   
RPGR ENST00000378505  
SPAG17 (PF6)  ENST00000336338   
STK36  ENST00000295709.3   
TAPT1  ENST00000405303   
TTC25  NM_031421.2   


Clinical genetics and genomics laboratory

Ground floor (Level 2), Syndey wing, Royal Brompton Hospital Sydney Street, London SW3 6NP

Telephone: 020 7352 8121 ext. 83009
Email: or 
Opening hours: Monday to Friday, 9 am - 5 pm
Head of laboratory: Dr Deborah Morris-Rosendahl

Useful documents

Molecular genetic testing request and consent form (pdf, 431KB)

Non-NHS molecular genetic testing request and consent form (pdf, 493KB)