Chromosomal Microarray(CMA315k) -Affymetrix Cytoscan Optima and Couple Karyotyping Combo

Chromosomal Microarray (CMA 315K) – Affymetrix CytoScan Optima & Couple Karyotyping Combo

Test Overview

The Chromosomal Microarray (CMA 315K) – Affymetrix CytoScan Optima and Couple Karyotyping Combo is a comprehensive genetic screening package designed to evaluate chromosomal abnormalities in both partners. It combines high-resolution chromosomal microarray analysis with conventional karyotyping to identify genetic variations that may affect fertility, pregnancy outcomes, recurrent miscarriages, congenital anomalies, or inherited chromosomal disorders. CMA provides detailed detection of microdeletions and microduplications, while karyotyping identifies large chromosomal rearrangements and balanced translocations.

What Does This Combo Test Include?

1. Chromosomal Microarray (CMA 315K)

• Uses Affymetrix CytoScan Optima Array technology.
• Analyzes over 315,000 chromosomal markers for genome-wide assessment.
• Detects:
  • Microdeletions and microduplications
  • Copy Number Variations (CNVs)
  • Aneuploidies (extra or missing chromosomes)
  • Regions of homozygosity (ROH)
  • Uniparental Disomy (UPD)
  • Certain forms of mosaicism

2. Couple Karyotyping

• Examines the number and structure of chromosomes in both partners.
• Detects:
  • Balanced and unbalanced translocations
  • Inversions
  • Large chromosomal deletions or duplications
  • Numerical chromosomal abnormalities such as trisomies and monosomies

Who Should Consider This Test?

• Couples with recurrent miscarriages
• Infertility or subfertility
• Previous child with genetic abnormalities or birth defects
• Family history of chromosomal disorders
• Repeated IVF/ICSI failures
• Couples planning pregnancy and seeking genetic risk assessment
• Individuals with suspected chromosomal abnormalities

Key Benefits

✔ Comprehensive evaluation of chromosomal health in both partners
✔ Detects abnormalities not visible through routine genetic testing
✔ Helps identify causes of infertility and recurrent pregnancy loss
✔ Assists in reproductive planning and genetic counseling
✔ Supports informed IVF and prenatal testing decisions
✔ Higher diagnostic yield when CMA and karyotyping are used together

Sample Requirement

• Peripheral Blood (EDTA): 3–5 mL from each partner.

Reporting Time

• Approximately 10–21 working days, depending on laboratory protocols.

Interpretation

A normal result reduces the likelihood of significant chromosomal abnormalities, while an abnormal result may identify genetic changes associated with infertility, recurrent pregnancy loss, developmental disorders, or inherited chromosomal conditions. Genetic counseling is recommended for interpretation and reproductive planning.