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: rbh-tr.genomics@nhs.net or geneticslab@rbht.nhs.uk
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)