A deep dive into the science, diagnosis, and treatment of this rare genetic condition with Prof. Peter Bauer, M.D. & Eleni Perraki.
Prof. Peter Bauer, lekarz medycyny.
Chief Medical and Genomic Officer, CENTOGENE
Eleni Perraki, doktor
Senior Product Manager, CENTOGENE
The Test Behind the Webinar
Gaucher disease is caused by deficient beta-glucocerebrosidase activity (GBA gene). Our Multiomic Solution (MOx) approach combines genetic, enzymatic, and biomarker analysis from a single sample – reducing the need for stepwise, sequential testing.
1 CentoCard
Dried blood spot for genetic, enzyme & biomarker analysis
>7,000
Rare diseases covered by CENTOGENE’s genomic portfolio
>1,400
Inherited Metabolic Disorders included, Gaucher among them
Measures beta-glucocerebrosidase activity – the enzyme deficient in Gaucher disease – to support or confirm a genetic finding.
Biochemical
Reflex-tested
Glucosylsphingosine (lyso-Gb1) is measured as a biomarker for Gaucher disease, helping resolve variants of uncertain significance and monitor disease activity.
Biochemical
Real-world validated
CentoGenome, CentoXome, or CentoMetabolic MOx identify GBA variants alongside >1,400 other inherited metabolic disorders in one workflow.
WGS
WES
Panele NGS
When a clinically relevant variant is identified, enzyme and biomarker testing run automatically – no second sample, no second order.
Single Order
Faster Answers
A method using Lyso-Gb1 is covered by US Patent No. 10,859,580, other pending US applications, and pending applications and patents in other jurisdictions.
Talk to our team about ordering multiomic testing, reviewing a case, or bringing CENTOGENE’s Gaucher testing workflow into your practice.
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