Medisapiens utilizes NEOseq_ACTION®, a reagent for Next Generation Sequencing, to analyze single nucleotide variants in 265 genes associated with actionable genetic rare diseases from minimal blood samples. This technology enables rapid diagnosis and treatment options for patients suffering from these conditions, enhancing their quality of life.
Funding
$5.8M raised to dateRaised to date based on public sources. This may differ from the amount the company actually raised and is based only on what is publicly available on the internet.
Founders
Product
Problem
Diagnosing rare genetic diseases often involves extensive and time-consuming testing, requiring large blood samples and delaying treatment, especially in pediatric cases where sample collection can be challenging. Current diagnostic methods may not cover a broad range of actionable genes, hindering comprehensive analysis and timely intervention.
Solution
Medisapiens offers NEOseq_ACTION®, a reagent-based solution for Next Generation Sequencing (NGS) designed to accelerate the diagnosis of rare genetic diseases. This technology enables the analysis of single nucleotide variants (SNVs) in 265 genes associated with actionable genetic rare diseases from minimal blood samples, including a single dried blood spot (DBS) or 100 μl of blood. By simultaneously testing a wide range of genes, NEOseq_ACTION® facilitates rapid and comprehensive genetic screening, enabling quicker diagnosis and informed treatment decisions. The streamlined process reduces the burden on patients and healthcare providers, leading to improved patient outcomes and quality of life.
Target Audience
The primary target audience includes clinical geneticists, pediatricians, and diagnostic laboratories specializing in rare disease testing.
Features
- Reagent-based kit for Next Generation Sequencing (NGS)
- Analyzes single nucleotide variants (SNVs) in 265 genes
- Requires minimal blood sample: one dried blood spot (DBS) or 100 μl of blood
- Targets genes associated with actionable genetic rare diseases
- Streamlined workflow for rapid and comprehensive genetic screening