Chromosomal Microarray - CMA

The Chromosomal Microarray - CMA test is a high-resolution, whole-genome chromosomal microarray test that detects submicroscopic chromosomal deletions/duplications, known as copy number variants (CNVs), which are associated with various genetic disorders.

Chromosomal Microarray (CMA) is an advanced genetic test that analyzes the entire genome to detect copy number variants (CNVs) - small chromosomal deletions or duplications that traditional karyotyping may miss. CMA offers a higher resolution compared to other genetic tests and is rapidly becoming the first-tier test for evaluating intellectual disabilities, autism, and congenital anomalies. This sophisticated technology helps in identifying genetic disorders, aiding in the clinical diagnosis of cytogenetic abnormalities, and differentiating between new unexplained mutations and familial history of disorders.

According to American College of Medical Genetics and Genomics (ACMG) Microarray methodologies, including array comparative genomic hybridization and single nucleotide polymorphism (SNP) detecting arrays, are accepted as an appropriate first-tier test for the evaluation of imbalances associated with intellectual disability, autism, and multiple congenital anomalies. Chromosomal microarray (CMA) is a sophisticated microarray technology that analyzes the entire genome, detecting submicroscopic chromosomal deletions/duplications known as copy number variants (CNVs). CNVs are commonly associated with various genetic disorders that are often missed by traditional karyotyping. This high-resolution, whole-genome technique is rapidly replacing traditional karyotyping as the primary genetic test for screening suspected chromosomal anomalies. CNVs are linked to a diverse range of genetic disorders, including Autism Spectrum Disorders, autosomal disorders, X-linked Inheritance, UPD (Uniparental Disomy), and more. 

Clinical Utility: 

• Clinical diagnosis of cytogenetic abnormalities.
• Differentiation between de novo (new unexplained mutations) and familial history of disorders.
• Prenatal diagnosis of at-risk pregnancies & at-risk family members.
• To clarify the clinical significance of copy number changes.
• To influence the management of the conditions/disorders in a better way including lifestyle interventions.

Who Should Get Tested?

• Patients undergoing invasive prenatal diagnosis with major fetal structural abnormalities identified by ultrasonography.
• Individuals with abnormal maternal serum screens to improve the detection of causative abnormalities.
• Pregnancies involving advanced maternal age.
• Families with a history of genetic diseases.
• Consanguine marriages.

What Does the Report Tell Me?

The Chromosomal Microarray - CMA report provides detailed insights into chromosomal imbalances, identifying submicroscopic deletions and duplications that contribute to various genetic disorders. The report differentiates between new mutations and inherited conditions, aiding in the accurate diagnosis of fetal chromosomal imbalances. It also includes a high-resolution analysis of the genome, offering a comprehensive view of the genetic factors influencing the pregnancy and potential outcomes.

Next Steps Post Getting the Report:

• After receiving the CMA report, it is essential to understand the findings and their implications. The next steps include:
• Genetic counseling to interpret the results and understand the clinical significance of detected CNVs.
• Discussion with healthcare providers about the management of identified conditions or disorders.
• Personalized recommendations for lifestyle interventions and medical management based on the genetic insights.
• Consideration of additional testing or monitoring if necessary, based on the findings.

Note: Post-test genetic counseling can be provided. If interested please send the request to this email id: [email protected]