Chromosomal Microarray(CMA315k) - Affymetrix Cytoscan Optima + Rapid Clinical Exome Sequencing(CES)

Chromosomal Microarray (CMA315k) – Affymetrix CytoScan Optima + Rapid Clinical Exome Sequencing (CES)

A comprehensive genetic testing solution for faster and more accurate diagnosis of rare genetic disorders by combining high-resolution chromosomal analysis with rapid exome sequencing.

Test Overview

This combined test integrates:

• Chromosomal Microarray (CMA315k) using the Affymetrix CytoScan™ Optima Array to detect chromosomal copy number variations (CNVs), microdeletions, microduplications, and regions of homozygosity.
• Rapid Clinical Exome Sequencing (CES) to identify disease-causing variants in thousands of clinically relevant genes associated with inherited disorders. The CytoScan Optima array contains approximately 315,000 probes, including copy-number and SNP markers for genome-wide analysis.

Clinical Indications

• Developmental delay (DD)
• Intellectual disability (ID)
• Autism Spectrum Disorder (ASD)
• Multiple congenital anomalies
• Unexplained neurological disorders
• Epilepsy and seizure disorders
• Suspected inherited genetic diseases
• Dysmorphic features
• Prenatal cases with structural abnormalities
• Cases requiring rapid genetic diagnosis for clinical management

What the Test Detects

Chromosomal Microarray (CMA)

• Microdeletions
• Microduplications
• Copy Number Variations (CNVs)
• Aneuploidies
• Regions of Homozygosity (ROH)
• Uniparental Disomy (UPD) in selected cases
• Large chromosomal imbalances

Rapid Clinical Exome Sequencing

• Single nucleotide variants (SNVs)
• Small insertions/deletions (Indels)
• Disease-causing mutations in clinically significant genes
• Rare inherited disorders

Benefits

• Higher overall diagnostic yield through complementary technologies
• Faster diagnosis for critically ill patients
• Genome-wide chromosomal and gene-level analysis in a single testing strategy
• Supports personalized treatment and genetic counseling
• Reduces the need for multiple sequential genetic tests
• Enables informed reproductive planning for families

Sample Required

• Peripheral Blood (EDTA)

Technology

• Affymetrix CytoScan™ Optima 315K SNP Microarray
• Next-Generation Sequencing (NGS)
• Advanced Bioinformatics Analysis
• ACMG-guided Variant Interpretation

Recommended For

• Pediatric patients with unexplained developmental disorders
• Individuals with suspected genetic syndromes
• Neonates requiring urgent genetic diagnosis
• Patients with congenital anomalies
• Families seeking confirmation of inherited disorders

Report Includes

• Clinically significant chromosomal abnormalities
• Pathogenic and likely pathogenic sequence variants
• Interpretation by clinical genetic experts
• Recommendations for genetic counseling and follow-up testing (where applicable)

Early and accurate genetic diagnosis can significantly improve clinical decision-making, treatment planning, and family counseling