[CIS PIDD] [cis-pidd] Blueprint Genetics?

Thu Nov 9 10:25:31 EST 2017

Hi Jason,

I fully agree with Don, however I might be somewhat impartial, the firm is actually Californian-Finnish with HQ right next to my workplace....

They have good coverage, seq rather deep including introns and flanking regions, TAT about 3 weeks from the arrival of sample and their service I personally have found excellent and reliable - at least thus far.

Their NGS services are in fact accredited, (not the norm yet in general). And pricing is competitive.

Their panel will be widened and updated, they a.o.t. have access to updates of our "in house known PIDD list", which we collectively maintain here in Helsinki...

ATB,

Mikko

Oyl Mikko Seppänen
Harvinaissairauksien yksikkö (HAKE)
[X]

Head, Rare Disease Center,
Helsinki University Hospital (HUH)
FINLAND

phone +358 947180201
GSM +358 50 4279606
fax +358 9 47174703

CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> kirjoitti 9.11.2017 kello 17.07:

Don, that does help - thank you for your quick reply.

Have a great morning!

-j

________________________________
From: cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net> <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>> on behalf of CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Sent: Thursday, November 9, 2017 8:50:07 AM
To: CIS-PIDD
Subject: Re:[cis-pidd] Blueprint Genetics?

Hi Jason,
Our institution uses it more frequently than some of the other commercial labs: Their PID panel is a 230 gene panel, with option for reflex CNV evaluation.

The TAT is relatively quick. The results are available via an email notice, linked to their secure website to download a PDF of the results.

In terms of interpretation, it is quite comprehensive (providing several in silico prediction results).

I believe they will also provide their raw data, with appropriate consent.

Hope that helps.
Don

Donald C. Vinh, MD, FRCP(C)
Director, Infectious Disease Susceptibility Program
Lilian Wilkins Associate Professor, FRQS Clinician-Scientist
Dept of Medicine (Division of Infectious Diseases; Division of Allergy & Clinical Immunology)
Dept of Medical Microbiology; Dept of Human Genetics

McGill University Health Centre - Research Institute
1001 Decarie Blvd; Block E; Rm EM3-3230 (Mail Drop: EM3-3211)
Montreal, Quebec,  Canada H4A 3J1
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From: cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net> <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>> on behalf of CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Sent: November 9, 2017 9:45 AM
To: CIS-PIDD
Subject: [cis-pidd] Blueprint Genetics?

Good Morning!

Anyone have experience using the primary immune deficiency panel through Blueprint Genetics (San Francisco, CA)?  Specifically:  ordering, results interpretation, pitfalls you have uncovered, etc.

Other primary immune deficiency panels you might recommend?

Thank you!

Jason

Jason Raasch, MD

Midwest Immunology Clinic

15700 37th Ave N, Ste 110

Plymouth, MN  55416

Phone: (763) 577-0008

FAX:  (763) 577-0192

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