CHROMOSOMAL MICROARRAY, in Visit Clinic

Chromosomal microarray detects copy‑number variants that cause developmental delay, intellectual disability, autism and congenital anomalies. It identifies microdeletion/microduplication syndromes such as 22q11.2 deletion (DiGeorge), 7q11.23 deletion (Williams), 15q11‑q13 abnormalities (Prader‑Willi/Angelman), 5p– (Cri‑du‑chat), 17p11.2 (Smith‑Magenis), trisomies (e.g., Down) and sex‑chromosome imbalances (e.g., Turner). It does not reliably detect balanced rearrangements.

Chromosomal microarray testing in India typically costs between ₹8,000 and ₹30,000, depending on the laboratory, test platform (array-CGH vs SNP array), sample type (prenatal vs postnatal), and turnaround time. Additional fees may apply for genetic counseling, confirmatory testing, or detailed interpretation. Confirm exact pricing, methodology, and insurance or employer coverage with the testing laboratory before booking.

Chromosomal microarray (CMA) can identify copy‑number variations—deletions or duplications—associated with autism and is recommended as a first‑line genetic test for children with autism, developmental delay, or intellectual disability. It does not diagnose autism itself and won’t detect single‑letter DNA changes; for those, sequencing (exome/genome) may be needed. Clinically significant findings occur in roughly 10–20% of cases.

The chromosomal microarray analysis (CMA) test detects DNA copy‑number changes—microdeletions and microduplications—across the genome. It’s used prenatally and postnatally to identify causes of developmental delay, intellectual disability, autism, congenital anomalies, and recurrent pregnancy loss. CMA is more sensitive than standard karyotyping for small imbalances but does not reliably detect balanced rearrangements or single‑gene mutations.

Chromosomal microarray (CMA) detects gains and losses of chromosomal material—copy number variations like microdeletions and microduplications—and regions of homozygosity. It’s a higher-resolution test than karyotype used to investigate developmental delay, intellectual disability, autism, congenital anomalies, abnormal prenatal ultrasound findings, and unexplained pregnancy loss. Results help confirm diagnoses, guide management and prognosis, and inform recurrence risk.

The most common chromosomal abnormalities include Down syndrome (trisomy 21), Turner syndrome (monosomy X, 45,X), Klinefelter syndrome (47,XXY), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13). Other relatively frequent sex‑chromosome variations are triple X (47,XXX) and XYY syndrome (47,XYY). These arise from whole‑chromosome aneuploidies and affect development, growth, and fertility.