A “microarray-based, genome-wide, postnatal chromosomal abnormality detection system” is a medical device that utilizes microarray technology to scan an individual’s entire genome after birth, identifying potential chromosomal abnormalities (gains or losses of genetic material) that might not be visible with traditional karyotyping methods, allowing for a more comprehensive evaluation of potential genetic disorders in a newborn or child; essentially, it is a high-resolution genetic test that analyses DNA fragments across the entire genome to detect sub microscopic deletions or duplications that could be associated with developmental delays, intellectual disability, or other genetic conditions.

Intended Use of System, Microarray-Based, Genome-Wide, Postnatal Chromosomal Abnormality Detection:

A microarray-based, genome-wide, postnatal chromosomal abnormality detection system is used to qualitatively detect constitutional gains and losses in chromosomal copy numbers across the human genome using microarray methods. It is intended as an aid in the postnatal diagnosis of developmental delay and/or intellectual disability (DD/ID), congenital anomalies, and dysmorphic features in conjunction with other clinical information currently used in postnatal diagnosis. It is not intended to be used for standalone diagnostic purposes, prenatal or pre-implantation testing or screening, population screening, or for the detection of, or screening for, acquired or somatic genetic aberrations.

Intended Use:

The assay is a qualitative method for detecting copy number variations (CNV) and copy-neutral loss of heterozygosity (cnLOH) in genomic DNA in patients referred for chromosomal testing. It is used to identify CNVs and cnLOH associated with developmental delay, intellectual disability, congenital anomalies, or dysmorphic features. Results are used in conjunction with other clinical and diagnostic findings, and interpretation is performed by healthcare professionals certified in clinical cytogenetics or molecular genetics. The assay is not intended for standalone diagnostic purposes or screening for genetic aberrations.

Device Description:

The test system is a multiplex qualitative amplification-based system that uses microarrays and probes to represent the entire genome. It integrates scanning, reagent handling, hybridization, washing, dedicated instrument control, data acquisition software, raw data storage mechanisms, and other hardware components. The system uses amplification of extracted genomic DNA and hybridization to homologous probes on a microarray. Signal intensities from bound probes determine copy number variation, copy neutral loss of heterozygosity (CNLOH), and mosaicism detection. The microarray may use different probe sizes and densities across different genome regions.

Performance Testing (Analytical) for System, Microarray-Based, Genome-Wide, Postnatal Chromosomal Abnormality Detection

• Reagent Stability
• Precision/Reproducibility
• Detection studies- Limit of Blank (LoB), Limit of Detection (LoD), and Limit of Quantitation (LoQ)
• Linearity/assay reportable range
• Traceability (controls, calibrators, or method)
• Accuracy
• Analytical specificity

Clinical Testing:

Required for 510k submission