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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 70114256 | 10212193 | 70085550 | FLT3 | 1609 | 1 | 1 | 1 | null | g:unknown/null | 0 | null | null | null | null | null | null | 0 | null | null | 2018-04-06 | null | null | null | null | 0 | null | null | null |
| 240009747 | 10699324 | 240000312 | FLT3 | 1609 | 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 | 2018-10-16 | 3)receiveddate | 2018-11-05 | 2019-02-13 | null | 0 | null | Fragment length analysis | Royal Marsden (molecular lab) |
| 240003037 | 11564064 | 240000087 | FLT3 | 1609 | 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 | 2016-12-18 | 1)authoriseddate | 2017-01-16 | 2016-12-18 | p.Ala502_Tyr503dup | 1 | p.Ala502_Tyr503dup | Sequencing, Dideoxy/Sanger | Birmingham (molecular lab) |
| 240009753 | 10532018 | 240000372 | FLT3 | 1609 | 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 | 2018-03-27 | 1)authoriseddate | 2018-04-25 | 2018-03-27 | null | 0 | null | Fragment length analysis | Royal Marsden (molecular lab) |
| 240003061 | 11262253 | 240000114 | FLT3 | 1609 | 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 | 2019-09-02 | 1)authoriseddate | 2019-09-06 | 2019-09-02 | null | 0 | null | Fragment length analysis | Royal Marsden (molecular lab) |
| 240003140 | 11301080 | 240000207 | FLT3 | 1609 | 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 | 2018-02-16 | 1)authoriseddate | 2017-11-25 | 2018-02-16 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 240003166 | 10128860 | 240000234 | FLT3 | 1609 | 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 | 2019-04-24 | 1)authoriseddate | 2019-05-18 | 2019-04-24 | null | 0 | null | Fragment length analysis | Royal Marsden (molecular lab) |
| 240003173 | 11096321 | 240000241 | FLT3 | 1609 | 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 | 2019-08-03 | 1)authoriseddate | 2019-06-15 | 2019-08-03 | null | 0 | null | Fragment length analysis | Royal Marsden (molecular lab) |
| 240003175 | 11314161 | 240000246 | FLT3 | 1609 | 1 | 2 | 1 | b:normal,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 | 2016-10-27 | 1)authoriseddate | 2016-11-13 | 2016-10-27 | p.Tyr570_Leu576del | 1 | p.Tyr570_Leu576del | Multiple methods | Birmingham (molecular lab) |
| 240003288 | 10530871 | 240000378 | FLT3 | 1609 | 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.2466T>A | c.2466T>A | 2017-03-14 | 1)authoriseddate | 2017-04-11 | 2017-03-14 | p.Asp835His | 1 | p.Asp835His | Sequencing, Dideoxy/Sanger | Royal Marsden (molecular lab) |
| 240003482 | 11668372 | 240000605 | FLT3 | 1609 | 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 | 2016-07-17 | 1)authoriseddate | 2016-08-04 | 2016-07-17 | null | 0 | null | Pyrosequencing | Royal Marsden (molecular lab) |
| 240003576 | 11182335 | 240000713 | FLT3 | 1609 | 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 | 2018-08-13 | 1)authoriseddate | 2018-08-02 | 2018-08-13 | p.Val559Gly | 1 | p.Val559Gly | SSCP | Royal Marsden (molecular lab) |
| 240003586 | 10312299 | 240000723 | FLT3 | 1609 | 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 | 2019-07-25 | 1)authoriseddate | 2019-06-03 | 2019-07-25 | null | 0 | null | Fragment length analysis | Royal Marsden (molecular lab) |
| 80043155 | 10794564 | 80018849 | FLT3 | 1609 | 1 | 1 | 1 | null | g:unknown/null | 0 | null | null | null | null | null | null | 0 | null | null | 2019-10-13 | null | null | 2019-10-13 | null | 0 | null | null | null |
| 240003059 | 11073411 | 240000112 | FLT3 | 1609 | 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 | 2017-04-30 | 1)authoriseddate | 2017-06-11 | 2017-04-30 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 240003664 | 10964176 | 240000814 | FLT3 | 1609 | 1 | 1 | 1 | c:borderline | c:borderline | 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 | 2018-09-12 | 1)authoriseddate | 2018-12-21 | 2018-09-12 | p.(Val824Val) HET | 1 | p.(Val824Val) HET | Fragment length analysis | Birmingham (molecular lab) |
| 240005707 | 10047529 | 240000274 | FLT3 | 1609 | 1 | 1 | 1 | f:not_tested | f:not_tested | 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 | 2019-07-20 | 3)receiveddate | 2019-03-02 | 2019-07-20 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 240005709 | 10230187 | 240000281 | FLT3 | 1609 | 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 | 2019-06-16 | 1)authoriseddate | 2019-04-22 | 2019-06-16 | p.(Trp557_Val560delinsCysLeu) | 1 | p.(Trp557_Val560delinsCysLeu) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 240005711 | 11930461 | 240000285 | FLT3 | 1609 | 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 | 2017-01-25 | 1)authoriseddate | 2016-12-21 | 2017-01-25 | p.Ala502_Tyr503dup | 1 | p.Ala502_Tyr503dup | Pyrosequencing | Royal Marsden (molecular lab) |
| 240005732 | 10786493 | 240000316 | FLT3 | 1609 | 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 | 2019-06-01 | 2)requesteddate | 2019-06-10 | 2019-06-01 | p.(Gln575_Pro577dup) | 1 | p.(Gln575_Pro577dup) | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 240005886 | 10108700 | 240000586 | FLT3 | 1609 | 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 | 2017-07-02 | 3)receiveddate | 2016-08-06 | 2017-07-02 | null | 0 | null | Fragment length analysis | Royal Marsden (molecular lab) |
| 240005927 | 11887548 | 240000660 | FLT3 | 1609 | 1 | 1 | 1 | a:abnormal,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 | 2019-09-08 | 1)authoriseddate | 2019-08-20 | 2019-09-08 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 240005949 | 10105064 | 240000704 | FLT3 | 1609 | 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 | 2017-02-09 | 1)authoriseddate | 2017-02-20 | 2017-02-09 | null | 0 | null | Unknown | Royal Marsden (molecular lab) |
| 240005962 | 11509634 | 240000719 | FLT3 | 1609 | 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 | 2019-05-11 | 1)authoriseddate | 2019-05-31 | 2019-05-11 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 240005965 | 10137708 | 240000727 | FLT3 | 1609 | 1 | 2 | 1 | b:normal,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 | 2018-02-25 | 1)authoriseddate | 2018-02-23 | 2018-02-25 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Royal Marsden (molecular lab) |
| 240006052 | 11159776 | 240000895 | FLT3 | 1609 | 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 | 2016-07-21 | 2)requesteddate | 2016-08-12 | 2016-07-21 | p.Val560Asp | 1 | p.Val560Asp | Pyrosequencing | Bristol (molecular lab) |
| 240006065 | 11837799 | 240000915 | FLT3 | 1609 | 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 | 2019-10-15 | 1)authoriseddate | 2019-11-11 | 2019-10-15 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Royal Marsden (molecular lab) |
| 240007438 | 11424717 | 240000008 | FLT3 | 1609 | 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 | 2019-06-19 | 1)authoriseddate | 2019-05-24 | 2019-06-19 | null | 0 | null | Fragment length analysis | Royal Marsden (molecular lab) |
| 240007519 | 10833892 | 240000298 | FLT3 | 1609 | 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 | 2019-09-16 | 1)authoriseddate | 2019-10-14 | 2019-09-16 | p.Trp557Arg | 1 | p.Trp557Arg | Multiple methods | Royal Marsden (molecular lab) |
| 240007541 | 10355223 | 240000386 | FLT3 | 1609 | 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 | 2018-05-23 | 1)authoriseddate | 2018-05-27 | 2018-05-23 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 240008818 | 11058154 | 240000369 | FLT3 | 1609 | 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 | 2018-04-09 | 1)authoriseddate | 2018-04-24 | 2018-04-09 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 240008846 | 11169959 | 240000480 | FLT3 | 1609 | 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 | 2018-02-06 | 1)authoriseddate | 2018-03-02 | 2018-02-06 | null | 0 | null | Mass Spectrometry Genotyping / MALDI-TOF | Royal Marsden (molecular lab) |
| 240008877 | 11091344 | 240000629 | FLT3 | 1609 | 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 | 2018-11-23 | 1)authoriseddate | 2018-11-28 | 2018-12-31 | p.Trp557_Val559delinsPhe | 1 | p.Trp557_Val559delinsPhe | Multiple methods | Royal Marsden (molecular lab) |
| 240008880 | 11772425 | 240000643 | FLT3 | 1609 | 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 | 2018-05-29 | 1)authoriseddate | 2018-06-07 | 2018-05-29 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 240008888 | 11426240 | 240000670 | FLT3 | 1609 | 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 | 2019-06-22 | 1)authoriseddate | 2019-05-01 | 2019-06-22 | null | 0 | null | Fragment length analysis | Royal Marsden (molecular lab) |
| 240009718 | 11628169 | 240000109 | FLT3 | 1609 | 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 | 2019-10-28 | 1)authoriseddate | 2019-11-16 | 2019-10-28 | null | 0 | null | Fragment length analysis | Royal Marsden (molecular lab) |
| 240009724 | 11149296 | 240000143 | FLT3 | 1609 | 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.2447A>T | c.2447A>T | 2017-07-07 | 2)requesteddate | 2017-08-05 | 2017-07-07 | (p.Trp557_Lys558del) | 1 | (p.Trp557_Lys558del) | Sequencing, Next Generation (NGS) | Birmingham (molecular lab) |
| 240009725 | 10824791 | 240000148 | FLT3 | 1609 | 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 | 2019-01-06 | 1)authoriseddate | 2019-01-30 | 2019-01-06 | null | 0 | null | Sequencing, Dideoxy/Sanger | Royal Marsden (molecular lab) |
| 240003659 | 11415012 | 240000808 | FLT3 | 1609 | 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 | 2017-10-22 | 1)authoriseddate | 2017-10-15 | 2017-10-22 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 240012202 | 11058154 | 240000369 | FLT3 | 1609 | 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 | 2018-04-09 | 1)authoriseddate | 2018-04-06 | 2018-04-09 | null | 0 | null | Fragment length analysis | Royal Marsden (molecular lab) |
| 240009785 | 11423173 | 240000602 | FLT3 | 1609 | 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 | 2016-04-12 | 1)authoriseddate | 2016-07-05 | 2016-04-12 | null | 0 | null | Fragment length analysis | Royal Marsden (molecular lab) |
| 240009804 | 11427877 | 240000701 | FLT3 | 1609 | 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 | 2019-07-06 | 1)authoriseddate | 2019-07-18 | 2019-07-06 | null | 0 | null | Other | Royal Marsden (molecular lab) |
| 240010399 | 11424717 | 240000008 | FLT3 | 1609 | 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.1781T>C | c.1781T>C | 2019-06-20 | 1)authoriseddate | 2019-06-29 | 2019-06-20 | p.(Ser114Ter) | 1 | p.(Ser114Ter) | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 240010407 | 10672291 | 240000152 | FLT3 | 1609 | 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 | 2018-07-31 | 1)authoriseddate | 2018-07-26 | 2018-07-31 | p.(Ala502_Tyr503dup) | 1 | p.(Ala502_Tyr503dup) | SSCP | Birmingham (molecular lab) |
| 240011475 | 10132835 | 240000131 | FLT3 | 1609 | 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 | 2017-11-23 | 1)authoriseddate | 2017-11-29 | 2017-11-23 | null | 0 | null | Fragment length analysis | Royal Marsden (molecular lab) |
| 240011488 | 10237214 | 240000650 | FLT3 | 1609 | 1 | 2 | 1 | a:abnormal,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 | 2016-06-20 | 1)authoriseddate | 2016-06-28 | 2016-06-20 | null | 0 | null | Sequencing, Next Generation (NGS) | Royal Marsden (molecular lab) |
| 240011492 | 11365995 | 240000696 | FLT3 | 1609 | 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 | 2017-10-08 | 1)authoriseddate | 2017-11-05 | 2017-10-08 | null | 0 | null | Fragment length analysis | Royal Marsden (molecular lab) |
| 240012150 | 10112740 | 240000777 | FLT3 | 1609 | 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 | 2017-06-23 | 1)authoriseddate | 2017-06-23 | 2017-06-23 | null | 0 | null | Fragment length analysis | Royal Marsden (molecular lab) |
| 240012195 | 10533859 | 240000766 | FLT3 | 1609 | 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 | 2019-08-20 | 1)authoriseddate | 2019-09-13 | 2019-08-20 | null | 0 | null | Fragment length analysis | Royal Marsden (molecular lab) |
| 240003644 | 10398201 | 240000793 | FLT3 | 1609 | 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 | 2017-10-24 | 1)authoriseddate | 2017-11-20 | 2017-10-24 | p.(Asp579del) | 1 | p.(Asp579del) | Sequencing, Dideoxy/Sanger | Cambridge (molecular lab) |