We are excited to announce the latest updates to our test menu. We have added some deep intronic and non-coding variants to the tested target regions that have been reported as pathogenic in the literature and are classified as likely pathogenic or pathogenic in ClinVar. These include for example the recurrent pathogenic CEP290 c.2991+1655A>G variant, ClinVar. This update will introduce additional variants for some panels in ophthalmology, gastroenterology, and pulmonology. For the full list of now covered deep intronic and non-coding variants, find more specific information from the test specific pages (e.g. Retinal Dystrophy Panel). Below you can find the updates for ophthalmology. In addition, our statement will have the information of included deep intronic or non-coding variants for each panel.
Blueprint Genetics has also optimized the assay design to have more uniform coverage for the target genes. These updates are done to further improve the diagnostic yield. Similar update will be done for other disease categories as well.
Detection of deep intronic variants for ophthalmology
| GENE | CHROMOSOME | POSITION | RS ID | REF ALLELE | ALT ALLELE |
| NMNAT1 | 1 | 10003560 | A | T | |
| NMNAT1 | 1 | 10003561 | C | T | |
| ABCA4 | 1 | 94484001 | rs778234759 | C | T |
| ABCA4 | 1 | 94484001 | C | A | |
| ABCA4 | 1 | 94484082 | T | C | |
| ABCA4 | 1 | 94492973 | rs869320785 | G | A |
| ABCA4 | 1 | 94493000 | C | T | |
| ABCA4 | 1 | 94493073 | G | A | |
| ABCA4 | 1 | 94576926 | rs761188244 | G | A |
| COL11A1 | 1 | 103491958 | rs587782990 | A | C |
| GNAT2 | 1 | 110151229 | rs397515384 | C | T |
| USH2A | 1 | 216039721 | G | A | |
| USH2A | 1 | 216064540 | rs786200928 | T | C |
| USH2A | 1 | 216247476 | T | C | |
| SDCCAG8 | 1 | 243468435 | rs397515337 | C | T |
| PROM1 | 4 | 15989860 | rs796051882 | T | C |
| FOXC1 | 6 | 1610252 | rs77888940 | C | G |
| FOXC1 | 6 | 1613076 | rs35717904 | A | T |
| PEX7 | 6 | 137143759 | rs267608252 | C | T |
| WRN | 8 | 30966107 | rs281865157 | A | G |
| CHD7 | 8 | 61763035 | rs794727423 | G | A |
| GALT | 9 | 34649617 | rs111033821 | C | T |
| COL5A1 | 9 | 137686903 | rs765079080 | T | G |
| ERCC6 | 10 | 50681659 | rs4253196 | T | C |
| HK1 | 10 | 71038447 | rs797044964 | G | C |
| HK1 | 10 | 71038467 | rs397514654 | G | C |
| OAT | 10 | 126100239 | rs386833601 | G | C |
| PAX6 | 11 | 31832374 | A | T | |
| CEP290 | 12 | 88494960 | rs281865192 | T | C |
| BBS4 | 15 | 73001820 | rs113994189 | TA | T |
| GNPTG | 16 | 1412562 | rs193302853 | GGTGGGCCTGGCTGGGAG | G |
| CTGGGTGCTGCCCCTGC | |||||
| LCAT | 16 | 67976512 | rs794726664 | A | G |
| FTL | 19 | 49468583 | C | T | |
| FTL | 19 | 49468586 | rs398124639 | GTCTGTC | G |
| FTL | 19 | 49468587 | T | G | |
| FTL | 19 | 49468597 | rs398124635 | G | A/C/T |
| FTL | 19 | 49468601 | rs398124637 | C | A/T |
| FTL | 19 | 49468604 | rs398124636 | C | T |
| FTL | 19 | 49468605 | rs398124633 | A | G |
| FTL | 19 | 49468606 | rs398124634 | G | C |
| FTL | 19 | 49468616 | rs398124638 | G | C |
| PRPF31 | 19 | 54633399 | C | G | |
| OFD1 | X | 13768358 | rs730880283 | A | G |
| OFD1 | X | 13773245 | rs312262865 | TTTAA | T |
| TIMM8A | X | 100601671 | rs869320666 | T | G |
| OCRL | X | 128687279 | A | G | |
Blueprint Genetics