V2 av_gene
255,731 rows · 29 columns
| GENEID | TUMOURID | PATIENTID | GENE_DESC | GENE | COUNT_TESTS | COUNT_RESULTS | COUNT_DATE | ALL_TESTSTATUSES | OVERALL_TS | NO_OF_AB_GATS | DNASEQ_GAT | METHYL_GAT | EXP_GAT | COPYNO_GAT | FUS_TRANS_GAT | ABNORMAL_GAT | NO_OF_SEQ_VARS | ALL_SEQ_VARS | SEQ_VAR | DATE_OVERALL_TS | BEST_DATE_SOURCE_OVERALL_TS | MIN_DATE | MAX_DATE | ALL_PRO_IMPS | NO_OF_PRO_IMPS | PRO_IMP | METHODS | LAB_NAME |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 130016570 | 10377938 | 130016570 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2016-12-21 | 2)requesteddate | 2016-12-22 | 2016-12-21 | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 130056154 | 10009170 | 130025407 | PIK3CA | 60 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-11-18 | 1)authoriseddate | 2019-12-01 | 2019-11-18 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130017652 | 10353336 | 130017652 | NRAS | 56 | 1 | 1 | 1 | f:not_tested | f:not_tested | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2017-12-30 | 2)requesteddate | 2017-12-30 | 2017-12-30 | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 130017839 | 11486737 | 130017839 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-03-18 | 2)requesteddate | 2019-03-17 | 2019-03-18 | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 130018091 | 11351439 | 130018091 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-10-01 | 1)authoriseddate | 2018-10-04 | 2018-10-01 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130018572 | 11103930 | 130018572 | NRAS | 56 | 1 | 1 | 1 | g:unknown/null | g:unknown/null | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-04-28 | 3)receiveddate | 2018-04-28 | 2018-04-28 | null | 0 | null | Sequencing, Next Generation (NGS) | Bristol (molecular lab) |
| 130019889 | 10908813 | 130019889 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-05-01 | 2)requesteddate | 2018-05-08 | 2018-05-01 | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 130027765 | 10990889 | 130027765 | TP53 | 79 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2017-10-29 | 1)authoriseddate | 2017-10-29 | 2017-10-29 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130027899 | 11018702 | 130027899 | TP53 | 79 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-01-30 | 1)authoriseddate | 2019-02-02 | 2019-01-30 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130029644 | 10261913 | 130029644 | BRAF | 6 | 1 | 1 | 1 | null | g:unknown/null | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 0 | null | null | 2018-11-14 | null | null | 2018-11-14 | p.V600E | 1 | p.V600E | Sequencing, Next Generation (NGS) | Liverpool (molecular lab) |
| 130029721 | 10155360 | 130029721 | BRAF | 6 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 0 | null | null | 2017-09-23 | null | null | null | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130031128 | 10075297 | 130000093 | MLH1 | 2744 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | n:not_applicable_null | n:not_applicable_null | aa:abnormal_under_exp | n:not_applicable_null | n:not_applicable_null | under_exp | 0 | null | null | 2019-05-26 | 1)authoriseddate | 2018-09-29 | 2019-05-26 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130038772 | 11093773 | 130007737 | MSH6 | 2808 | 1 | 2 | 1 | b:normal,b:normal | b:normal | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | b:normal_copy_no | n:not_applicable_null | null | 0 | null | null | 2016-08-12 | 1)authoriseddate | 2016-09-10 | 2016-08-14 | p.(Arg29ValfsTer48),p.(Phe1088SerfsTer2) | 2 | multiple | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130017034 | 11744096 | 130017034 | NRAS | 56 | 1 | 1 | 1 | f:not_tested | f:not_tested | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-10-19 | 2)requesteddate | 2019-11-12 | 2019-10-19 | null | 0 | null | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 130046507 | 10384628 | 130015478 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2017-10-30 | 1)authoriseddate | 2017-11-26 | 2017-10-30 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130049494 | 10565807 | 130018518 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-05-27 | 1)authoriseddate | 2019-06-21 | 2019-05-27 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130050052 | 11107052 | 130019081 | KRAS | 47 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.35G>T | c.35G>T | 2019-11-02 | 1)authoriseddate | 2019-11-30 | 2019-11-02 | p.(Gly12Val) | 1 | p.(Gly12Val) | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130050630 | 11564147 | 130019667 | NRAS | 56 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.181C>A | c.181C>A | 2017-01-31 | 1)authoriseddate | 2017-02-15 | 2017-01-31 | p.Q61K | 1 | p.Q61K | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130050906 | 11921587 | 130019945 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-01-01 | 1)authoriseddate | 2018-01-11 | 2018-01-01 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130051033 | 10351271 | 130020077 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-09-29 | 2)requesteddate | 2019-09-03 | 2019-09-29 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130051283 | 11140525 | 130020336 | NRAS | 56 | 1 | 1 | 1 | g:unknown/null | g:unknown/null | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-09-21 | 2)requesteddate | 2019-09-20 | 2019-09-21 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130051346 | 11761155 | 130020401 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-05-24 | 3)receiveddate | 2018-11-17 | 2019-06-11 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130051485 | 11586301 | 130020542 | NRAS | 56 | 1 | 2 | 1 | e:failed,a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.182A>T | c.182A>T | 2019-04-23 | 3)receiveddate | 2019-03-22 | 2019-04-23 | p.(Gln61Leu),p.Gln61Leu | 2 | multiple | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130051555 | 10101665 | 130020619 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-01-22 | 1)authoriseddate | 2017-12-23 | 2018-01-22 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130051867 | 11522992 | 130020946 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-06-03 | 1)authoriseddate | 2019-05-23 | 2019-06-03 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130052001 | 11833791 | 130021093 | NRAS | 56 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.181C>A | c.181C>A | 2017-02-15 | 2)requesteddate | 2017-03-14 | 2017-02-15 | p.Gln61Lys | 1 | p.Gln61Lys | Sequencing, Next Generation (NGS) | Cambridge (molecular lab) |
| 130052027 | 10917377 | 130021119 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-11-17 | 1)authoriseddate | 2019-11-09 | 2019-11-17 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130052064 | 10886234 | 130021156 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-11-06 | 1)authoriseddate | 2019-11-18 | 2019-11-06 | null | 0 | null | Sequencing, Next Generation (NGS) | Exeter (molecular lab) |
| 130052149 | 11410373 | 130021246 | NRAS | 56 | 1 | 1 | 1 | g:unknown/null | g:unknown/null | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-12-23 | 1)authoriseddate | 2019-01-21 | 2018-12-23 | null | 0 | null | Sequencing, Next Generation (NGS) | Leeds (molecular lab) |
| 130052257 | 10644364 | 130021359 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-07-24 | 1)authoriseddate | 2019-08-04 | 2019-07-24 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130052396 | 11359690 | 130021506 | NRAS | 56 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.34G>T | c.34G>T | 2018-12-30 | 1)authoriseddate | 2019-01-08 | 2018-12-30 | null | 0 | null | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 130052512 | 11782823 | 130021627 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-11-17 | 1)authoriseddate | 2019-12-10 | 2019-11-17 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130052848 | 11510202 | 130021984 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2017-04-20 | 3)receiveddate | 2017-04-20 | 2017-04-20 | null | 0 | null | Sequencing, Next Generation (NGS) | Nottingham (molecular lab) |
| 130052906 | 11105918 | 130022045 | NRAS | 56 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | (c.35G>A | (c.35G>A | 2018-10-18 | 1)authoriseddate | 2018-10-29 | 2018-10-18 | p.(Gln61Leu) | 1 | p.(Gln61Leu) | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130052918 | 10233804 | 130022059 | NRAS | 56 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-07-01 | 1)authoriseddate | 2019-06-13 | 2019-07-01 | null | 0 | null | Sequencing, Next Generation (NGS) | Exeter (molecular lab) |
| 130053085 | 11281373 | 130022232 | NRAS | 56 | 1 | 1 | 1 | g:unknown/null | g:unknown/null | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-09-25 | 1)authoriseddate | 2019-07-18 | 2019-09-25 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130056051 | 10284506 | 130025301 | PIK3CA | 60 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-11-12 | 1)authoriseddate | 2018-12-11 | 2018-11-12 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130056078 | 10329486 | 130025328 | PIK3CA | 60 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-05-08 | 1)authoriseddate | 2019-05-20 | 2019-05-08 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130060562 | 10746450 | 130011098 | PDGFRA | 59 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-07-02 | 1)authoriseddate | null | 2018-07-02 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130056255 | 10468821 | 130025511 | PIK3CA | 60 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.2908G>A | c.2908G>A | 2019-11-08 | 1)authoriseddate | 2019-09-05 | 2019-11-08 | p.(Arg38His) | 1 | p.(Arg38His) | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130056280 | 11228289 | 130025536 | PIK3CA | 60 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2016-12-24 | 1)authoriseddate | 2017-01-07 | 2016-12-24 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130056286 | 10819568 | 130025542 | PIK3CA | 60 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2017-12-05 | 1)authoriseddate | 2018-01-23 | 2017-12-05 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130056288 | 10023618 | 130025544 | PIK3CA | 60 | 1 | 1 | 1 | e:failed | e:failed | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-11-08 | 1)authoriseddate | 2019-11-10 | 2019-11-08 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130056333 | 10607710 | 130025589 | PIK3CA | 60 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2018-05-24 | 1)authoriseddate | 2018-06-09 | 2018-05-24 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130056346 | 10640090 | 130025602 | PIK3CA | 60 | 1 | 1 | 1 | a:abnormal | a:abnormal | 1 | a:abnormal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | dna_sq | 1 | c.1634A>G | c.1634A>G | 2016-03-25 | 1)authoriseddate | 2016-04-16 | 2016-03-25 | p.(His1047Leu) | 1 | p.(His1047Leu) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130060192 | 10587452 | 130029889 | MUTYH | 2850 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-11-19 | 1)authoriseddate | 2019-12-18 | null | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130060255 | 10333834 | 130001392 | PDGFRA | 59 | 1 | 1 | 1 | null | g:unknown/null | 0 | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-10-27 | 1)authoriseddate | null | null | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 130060334 | 11697682 | 130003902 | MUTYH | 2850 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2017-06-12 | 1)authoriseddate | null | null | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130060342 | 10793586 | 130004177 | SMAD4 | 72 | 1 | 1 | 1 | null | g:unknown/null | 1 | n:not_applicable_null | n:not_applicable_null | ab:abnormal_over_exp | n:not_applicable_null | n:not_applicable_null | over_exp | 0 | null | null | 2016-06-22 | 1)authoriseddate | 2016-07-15 | 2016-06-22 | null | 0 | null | Sequencing, Next Generation (NGS) | Manchester (molecular lab) |
| 130046056 | 11123394 | 130015021 | KRAS | 47 | 1 | 1 | 1 | b:normal | b:normal | 0 | b:normal_dna_sq | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | n:not_applicable_null | null | 0 | null | null | 2019-10-02 | 3)receiveddate | 2019-10-16 | 2019-10-02 | null | 0 | null | Sequencing, Next Generation (NGS) | Bristol (molecular lab) |