US-based Affymetrix has obtained US Food and Drug Administration clearance to market its CytoScan Dx assay, designed to detect chromosomal variations that may be responsible for a child's developmental delay or intellectual disability.
According to Affymetrix, the new blood sample-based test can analyse the entire genome at one time and detect large and small chromosomal changes.
The Affymetrix CytoScan Dx assay was reviewed through FDA's de novo classification process, a regulatory pathway for some novel low-moderate-risk medical devices.
For the de novo petition, the FDA's review of the CytoScan Dx assay included an analytical evaluation of the test's ability to accurately detect numerous chromosomal variations of different types, sizes, and genome locations when compared to several analytically validated test methods.
In this review, the FDA found that the CytoScan Dx assay could analyse a patient's entire genome and adequately detect chromosome variations in regions of the genome associated with intellectual and developmental disabilities.
The approval is also based on the FDA review of a study which compared the CytoScan Dx assay performance with other tests that are commonly used for detecting chromosomal variations associated with a developmental delay or intellectual disability.
A comparison of test results from 960 blood specimens demonstrated the CytoScan Dx had improved ability over commonly used tests that include karyotyping and FISH chromosomal tests for detecting certain chromosomal abnormalities.
The FDA Center for Devices and Radiological Health Office of In Vitro Diagnostics and Radiological Health director Dr Alberto Gutierrez noted this new tool may help in the identification of possible causes of a child's developmental delay or intellectual disability, allowing health care providers and parents to intervene with appropriate care and support for the child.
"The FDA's review of the test provides clinical laboratories with information about the expected performance of the device and the quality of the results," Dr Gutierrez said.
According to the company, the Affymetrix CytoScan Dx assay should not be used for stand-alone diagnostic purposes, pre-implantation or prenatal testing or screening, population screening, or for the detection of, or screening for acquired or genetic aberrations occurring after birth, such as cancer.
Image:CytoScan Dx Assay to help diagnose developmental delays and intellectual disabilities in children. Photo: courtesy of freedigitalphotos.net.