CMA 750K with Clinical Exome Sequencing

CMA 750K with Clinical Exome Sequencing

Test Overview
CMA 750K with Clinical Exome Sequencing is a comprehensive genetic test that combines Chromosomal Microarray Analysis (CMA 750K) with Clinical Exome Sequencing (CES). This dual approach detects both large chromosomal abnormalities and small disease-causing genetic variants, improving the chances of identifying the underlying cause of genetic disorders. CMA is effective for detecting copy number variations (CNVs), while Clinical Exome Sequencing analyzes thousands of clinically relevant genes associated with inherited diseases.

Why is this test performed?

• Evaluation of unexplained developmental delay or intellectual disability
• Autism spectrum disorders
• Multiple congenital anomalies (birth defects)
• Suspected rare genetic disorders
• Epilepsy and neurological disorders
• Unexplained metabolic or neuromuscular conditions
• Patients with negative results from routine genetic tests
• Genetic diagnosis to guide treatment and family counseling

What does the test detect?

• Chromosomal deletions and duplications (CNVs)
• Microdeletions and microduplications
• Single nucleotide variants (SNVs)
• Small insertions and deletions (Indels)
• Pathogenic variants in clinically relevant genes
• Likely pathogenic genetic alterations associated with inherited disorders

Sample Required

• Peripheral Blood (EDTA)

Preparation

• No fasting or special preparation required.

Benefits

• Comprehensive evaluation using two advanced genetic technologies
• Higher diagnostic yield than using CMA or exome sequencing alone
• Helps establish an accurate genetic diagnosis
• Supports personalized treatment and medical management
• Assists with prognosis, recurrence risk assessment, and genetic counseling for families