Pompe Disease Whole Blood
About: Whole blood from donors with confirmed Pompe disease. Useful for GAA gene variant research and enzyme replacement therapy studies.
<h2>Pompe Disease Whole Blood for Research</h2>
Pompe disease is a rare lysosomal storage disorder caused by GAA gene mutations that impair acid alpha-glucosidase activity, leading to glycogen accumulation in muscle tissue. Sanguine collects fresh whole blood from IRB-consented donors with a clinically confirmed Pompe disease diagnosis for genetic and metabolic disease research.
<h3>Product Features</h3>
<ul><li>Fresh whole blood from clinically diagnosed Pompe disease donors</li><li>Custom anticoagulants and collection tubes available</li><li>Same-day collection and shipment</li><li>Research Use Only (RUO)</li></ul>
<h3>De-identified Donor Data</h3>
<ul><li>Physician-confirmed diagnosis, including GAA genotype and enzyme activity where available</li><li>Demographics: age, sex assigned at birth, ethnicity</li><li>Relevant medical and treatment history</li></ul>
<h3>Applications</h3>
<ul><li>GAA gene variant and enzyme activity research</li><li>Glycogen storage and muscle biomarker studies</li><li>Gene expression and transcriptomic analysis</li><li>Enzyme replacement and gene therapy response research</li></ul>
<h3>Compliance and Quality</h3>
<ul><li>IRB-approved protocols and electronic informed consent</li><li>HIPAA-compliant donor data handling</li></ul>
<h3>Ordering and Customization</h3>
Pompe disease whole blood is available in standard and custom volumes. Email <a href=”mailto:learnmore@sanguinebio.com”>learnmore@sanguinebio.com</a> for international orders or documentation requirements.
Whole Blood
Frequently Asked Questions
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All our samples have self-reported infectious disease testing and verified clinical diagnosis. Many of our samples have the option of electronic medical records provided and our prospective collection offers the opportunity for patient reported outcomes and surveys. Learn more here. https://sanguinebio.com/patient-reported-outcomes-pro-surveys-questionnaires/
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YES – Certificate of analysis is available upon request.
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Lead times vary from ready to ship inventory to prospective studies.
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International shipping is available. We also work with a number of distributors. Contact us to discuss options at learnmore@sanguinebio.com.
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We have several ordering methods. You can order directly online with a PO or credit card or contact us to have a sales specialist help with your order. https://sanguinebio.com/request-quote/
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You can request a quote on this page or contact us at learnmore@sanguinebio.com. https://sanguinebio.com/request-quote/
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NO – no minimum order requirements.
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For bulk pricing inquiries, please contact: LearnMore@sanguinebio.com
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YES, in some cases we can accomodate this request including treatment naive oncology samples. As we have electronic medical records, we can also accomodate specific treatment regiments.
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YES – Donor metadata includes: gender, race/ethnicity, age, medications, healthcare encounters, and more. To learn more visit https://sanguinebio.com/donor-data/
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Custom volumes available – The website consistently mentions “custom volumes” are available. You should contact learnmore@sanguinebio.com to discuss specific volume requirements and multiple units from the same donor.
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Sanguine offers same-day delivery in many metropolitan areas. Whole Blood ships same day with next-day delivery options available. For more information, request a quote or contact: LearnMore@sanguinebio.com
Ask a Question
Need a custom Whole Blood cohort?
Our scientific team can scope prospective collections with donor-specific I/E criteria, typically starting within 2 weeks of agreement.