Single Variant Analysis is a highly specific DNA sequencing test designed to identify a single pathogenic mutation associated with a known hereditary disorder. Unlike broad genetic panels, it focuses on a defined variant based on an individual’s family history or prior clinical findings, ensuring absolute precision in detection and diagnosis.

The analysis is carried out using next-generation sequencing (NGS) platforms that guarantee high sensitivity, accuracy, and reproducibility. The process begins with DNA extraction from a simple blood sample, followed by amplification and targeted sequencing of the specific genomic region of interest.

This test is particularly valuable for families with a documented history of genetic diseases such as sickle cell anemia, thalassemia, cystic fibrosis, or inherited cancer syndromes. It enables early diagnosis, proactive health management, and better clinical planning for at-risk individuals.
Results help doctors confirm carrier status, assess recurrence risk in future pregnancies, and guide preventive or therapeutic measures tailored to the individual’s genetic profile.

Single Variant Analysis also supports reproductive planning by informing couples about potential risks before conception.The test offers clarity and certainty when a specific familial mutation is already known, reducing diagnostic timelines significantly.

At Dr. Ashwini’s Scans and Labs in Bangalore, combining scientific accuracy with compassionate care ensures reliable insights into hereditary health for every patient seeking genetic clarity and confidence.