FDA Clears First-of-Its-kind Postnatal Test for Developmental Disabilities
By LabMedica International staff writers Posted on 02 Apr 2014 |
The US Food and Drug Administration (FDA) has recently cleared a new postnatal blood test to help diagnose children’s genetic-based developmental disabilities more comprehensively by enabling a high-resolution genome-wide analysis of genetic aberrations.
Affymetrix (Santa Clara, CA, USA) has received 510(k) clearance to market its "CytoScan Dx Assay", which improves diagnostic capability as the high-resolution analysis can reveal small aberrations not readily detected with traditional technologies. Many disabilities are associated with chromosomal variations; CytoScan Dx can detect chromosomal variations that may be responsible for a child’s developmental delay or intellectual disability. The assay is intended for the postnatal detection of DNA copy number variants (CNV) in patients referred for chromosomal testing. Based on a blood sample, the test can analyze the entire genome at once and detect large and small chromosomal changes.
“This new tool may help in the identification of possible causes of a child’s developmental delay or intellectual disability,” said Alberto Gutierrez, PhD, director of the FDA's Office of In Vitro Diagnostics and Radiological Health; “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.” The review 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. CytoScan Dx could analyze a patient’s entire genome and adequately detect chromosome variations in regions of the genome associated with intellectual and developmental disabilities. The review also included a study comparing performance of CytoScan Dx to test for variations associated with a given developmental delay or intellectual disability—results from 960 blood specimens showed that CytoScan Dx had improved detection ability over commonly used tests, including karyotyping and FISH chromosomal tests.
“This clearance is first-of-its-kind, and represents a leap forward in molecular genetic testing. CytoScan Dx Assay is the first FDA-cleared test that analyzes the whole genome in a single assay at unprecedented resolution, which significantly improves diagnostic capability. Developing and clearing this assay establish Affymetrix as a leader in advancing molecular diagnostics by bringing high quality genomic tools into routine application in the clinic,” said Frank Witney, CEO and President of Affymetrix.
"We are pleased to have been selected by Affymetrix to be part of the clinical trial for CytoScan Dx Assay and found the performance data of this assay very impressive. [...] This assay represents the best option for accelerating an accurate diagnosis," said Alka Chaubey, PhD, Director of the Greenwood Genetic Center's Cytogenetics Laboratory.
CytoScan Dx results should only be used in conjunction with other relevant clinical and diagnostic methods (including confirmation by alternative tests), and consistent with professional standards of practice and interpretation in clinical genetics.
Related Links:
Affymetrix
Affymetrix (Santa Clara, CA, USA) has received 510(k) clearance to market its "CytoScan Dx Assay", which improves diagnostic capability as the high-resolution analysis can reveal small aberrations not readily detected with traditional technologies. Many disabilities are associated with chromosomal variations; CytoScan Dx can detect chromosomal variations that may be responsible for a child’s developmental delay or intellectual disability. The assay is intended for the postnatal detection of DNA copy number variants (CNV) in patients referred for chromosomal testing. Based on a blood sample, the test can analyze the entire genome at once and detect large and small chromosomal changes.
“This new tool may help in the identification of possible causes of a child’s developmental delay or intellectual disability,” said Alberto Gutierrez, PhD, director of the FDA's Office of In Vitro Diagnostics and Radiological Health; “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.” The review 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. CytoScan Dx could analyze a patient’s entire genome and adequately detect chromosome variations in regions of the genome associated with intellectual and developmental disabilities. The review also included a study comparing performance of CytoScan Dx to test for variations associated with a given developmental delay or intellectual disability—results from 960 blood specimens showed that CytoScan Dx had improved detection ability over commonly used tests, including karyotyping and FISH chromosomal tests.
“This clearance is first-of-its-kind, and represents a leap forward in molecular genetic testing. CytoScan Dx Assay is the first FDA-cleared test that analyzes the whole genome in a single assay at unprecedented resolution, which significantly improves diagnostic capability. Developing and clearing this assay establish Affymetrix as a leader in advancing molecular diagnostics by bringing high quality genomic tools into routine application in the clinic,” said Frank Witney, CEO and President of Affymetrix.
"We are pleased to have been selected by Affymetrix to be part of the clinical trial for CytoScan Dx Assay and found the performance data of this assay very impressive. [...] This assay represents the best option for accelerating an accurate diagnosis," said Alka Chaubey, PhD, Director of the Greenwood Genetic Center's Cytogenetics Laboratory.
CytoScan Dx results should only be used in conjunction with other relevant clinical and diagnostic methods (including confirmation by alternative tests), and consistent with professional standards of practice and interpretation in clinical genetics.
Related Links:
Affymetrix
Latest Molecular Diagnostics News
- New Respiratory Syndromic Testing Panel Provides Fast and Accurate Results
- New Synthetic Biomarker Technology Differentiates Between Prior Zika and Dengue Infections
- Novel Biomarkers to Improve Diagnosis of Renal Cell Carcinoma Subtypes
- RNA-Powered Molecular Test to Help Combat Early-Age Onset Colorectal Cancer
- Advanced Blood Test to Spot Alzheimer's Before Progression to Dementia
- Multi-Omic Noninvasive Urine-Based DNA Test to Improve Bladder Cancer Detection
- First of Its Kind NGS Assay for Precise Detection of BCR::ABL1 Fusion Gene to Enable Personalized Leukemia Treatment
- Urine Test to Revolutionize Lyme Disease Testing
- Simple Blood Test Could Enable First Quantitative Assessments for Future Cerebrovascular Disease
- New Genetic Testing Procedure Combined With Ultrasound Detects High Cardiovascular Risk
- Blood Samples Enhance B-Cell Lymphoma Diagnostics and Prognosis
- Blood Test Predicts Knee Osteoarthritis Eight Years Before Signs Appears On X-Rays
- Blood Test Accurately Predicts Lung Cancer Risk and Reduces Need for Scans
- Unique Autoantibody Signature to Help Diagnose Multiple Sclerosis Years before Symptom Onset
- Blood Test Could Detect HPV-Associated Cancers 10 Years before Clinical Diagnosis
- Low-Cost Point-Of-Care Diagnostic to Expand Access to STI Testing