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

Chromosomal Microarray (CMA315K) – Affymetrix CytoScan Optima + Rapid Clinical Exome Sequencing (CES) with MCC

A comprehensive prenatal genetic test that combines Chromosomal Microarray Analysis (CMA) and Rapid Clinical Exome Sequencing (CES) to identify chromosomal abnormalities and gene mutations in the fetus. Maternal Cell Contamination (MCC) testing is included to ensure the accuracy and reliability of fetal DNA analysis. Chromosomal microarray detects copy number changes such as microdeletions and microduplications, while rapid exome sequencing identifies disease-causing variants in the protein-coding regions of genes.

Why is this test done?

• Detects chromosomal abnormalities and pathogenic gene variants in the fetus
• Investigates abnormal fetal ultrasound findings
• Evaluates pregnancies with suspected genetic disorders
• Helps diagnose developmental and congenital abnormalities
• Supports informed pregnancy management and genetic counseling
• Provides rapid results in time-sensitive prenatal cases

Who should consider this test?

• Pregnancies with abnormal ultrasound findings
• Couples with a previous child affected by a genetic disorder
• Families with a history of inherited diseases
• Cases with inconclusive routine prenatal genetic tests
• High-risk pregnancies requiring comprehensive genetic evaluation

Sample Required

• Prenatal sample (such as Chorionic Villus Sample or Amniotic Fluid, as advised by the clinician)
• Maternal blood sample for Maternal Cell Contamination (MCC) analysis

Benefits

• Combines chromosomal and single-gene analysis in one test
• Detects both large and very small genetic alterations
• Includes MCC testing for improved diagnostic accuracy
• Rapid turnaround for timely clinical decisions
• Supports personalized prenatal counseling and management

Preparation

No special preparation is required. Sample collection should be performed by a qualified healthcare professional.

Early and accurate prenatal genetic diagnosis helps clinicians and families make informed decisions with greater confidence.