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BluePrint offers a wide variety of multi-gene panels focused on diverse areas of study, including cardiology, pulmonology, ophthalmology, pediatrics, neurology, dermatology, endocrinology, immunology, nephrology, and hematology.
Source: bvsms.saude.gov.br
1 in 27 Ashkenazi Jews is a carrier of the Tay-Sachs mutation, a fatal neurodegenerative disorder caused by the absence of an enzyme necessary for breaking down fatty substances in the brain.
Source: www.msdmanuals.com
5% to 10% of rare genetic diseases have some form of effective treatment available.
Source: 2020 NORD (National Organization for Rare Disorders) Report.
Consider this test in the following cases:
The panel includes:
There are more than 220 panels covering 14 medical specialties, with panels ranging from 2 genes to 3000 genes, depending on the selected panel.
The methodology used for this test is as follows:
Blood: No fasting required.
Saliva: 30 minutes of total fasting.
Up to 21 calendar days.
Medical request.
| Type | Description |
| Technique | NGS + CNVs |
| Depth | >100x |
| Coverage | >99% of target regions |
| VuS Resolution | Sanger, MLPA |
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