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 

GENECHROMOSOMEPOSITIONRS IDREF ALLELEALT ALLELE
NMNAT1110003560AT
NMNAT1110003561CT
ABCA4194484001rs778234759CT
ABCA4194484001CA
ABCA4194484082TC
ABCA4194492973rs869320785GA
ABCA4194493000CT
ABCA4194493073GA
ABCA4194576926rs761188244GA
COL11A11103491958rs587782990AC
GNAT21110151229rs397515384CT
USH2A1216039721GA
USH2A1216064540rs786200928TC
USH2A1216247476TC
SDCCAG81243468435rs397515337CT
PROM1415989860rs796051882TC
FOXC161610252rs77888940CG
FOXC161613076rs35717904AT
PEX76137143759rs267608252CT
WRN830966107rs281865157AG
CHD7861763035rs794727423GA
GALT934649617rs111033821CT
COL5A19137686903rs765079080TG
ERCC61050681659rs4253196TC
HK11071038447rs797044964GC
HK11071038467rs397514654GC
OAT10126100239rs386833601GC
PAX61131832374AT
CEP2901288494960rs281865192TC
BBS41573001820rs113994189TAT
GNPTG161412562rs193302853GGTGGGCCTGGCTGGGAGG
CTGGGTGCTGCCCCTGC
LCAT1667976512rs794726664AG
FTL1949468583CT
FTL1949468586rs398124639GTCTGTCG
FTL1949468587TG
FTL1949468597rs398124635GA/C/T
FTL1949468601rs398124637CA/T
FTL1949468604rs398124636CT
FTL1949468605rs398124633AG
FTL1949468606rs398124634GC
FTL1949468616rs398124638GC
PRPF311954633399CG
OFD1X13768358rs730880283AG
OFD1X13773245rs312262865TTTAAT
TIMM8AX100601671rs869320666TG
OCRLX128687279AG

 

 

Blueprint Genetics