Panel update for ophthalmology, gastroenterology, and pulmonology

June 1, 2017

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 

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
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



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