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Blueprint Genetics, BioMarin to Offer Genetic Testing for Skeletal Dysplasia in Europe, Middle East

NEW YORK ─ Blueprint Genetics said Tuesday it is collaborating with BioMarin to launch a free genetic testing program for people suspected of having inherited skeletal dysplasia.

The program, expected to launch this month for physicians in certain countries in Europe and the Middle East, aims to enable early detection and more precise diagnoses, leading to improved patient outcomes, Blueprint Genetics said.

Financial and other terms of the collaboration agreement were not disclosed.

According to Blueprint Genetics, patients should have at least one of the following clinical features to be eligible for the program — signs or symptoms suggestive of skeletal dysplasia; disproportionate growth; dysmorphic facial features; or abnormal gait with joint pain.

"An early molecular diagnosis can have considerable benefits for patients with skeletal dysplasia and is essential for optimizing care," Juha Koskenvuo, Blueprint Genetics executive director of Medical and Laboratory Director, said in a statement.

Eligible patients will have access to a Blueprint Genetics 419-gene panel that detects single nucleotide variants and provides an analysis of more than 180 noncoding variants associated with skeletal dysplasia. The panel also includes high-resolution detection of copy number variants, or CNVs.

Blueprint noted that a recent study published in the Orphanet Journal of Rare Diseases examining the genetic test results of 543 patients with suspected skeletal dysplasia found that CNVs accounted for more than 5 percent of diagnostic variants.

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