Short Description

Preparation of gDNA Library, 2x150 PE Illumina Hiseq sequencing to generate 90 GB Data. Alignment of QC filtered sequence data onto the reference, variant calling, variant quality check and annotation. Results will be delivered as annotated VCF.

PreTest Information

Detail Description

Human Genome Sequencing and Variant Calling - DNA Labs India

DNA Labs India is a leading provider of genetic testing services in India. We offer high-quality human genome sequencing and variant calling services at a cost of INR 225,000. Our advanced sequencing technology and experienced team of geneticists enable us to deliver accurate and reliable results.

What is Human Genome Sequencing?

Human genome sequencing is the process of determining the complete DNA sequence of an individual's genome. The human genome contains all the genetic information that determines an individual's traits, such as eye color, height, and susceptibility to certain diseases.

By sequencing an individual's genome, we can identify genetic variations or mutations that may cause or contribute to disease. This information can be used to develop personalized treatment plans and improve health outcomes.

What is Variant Calling?

Variant calling is the process of identifying genetic variations or mutations in an individual's genome. These variations can be single nucleotide polymorphisms (SNPs), insertions, deletions, or other structural changes.

By identifying these variations, we can determine the genetic basis of disease and develop targeted treatments. Variant calling is a critical step in the process of genomic medicine and precision healthcare.

Symptoms and Diagnosis of Genetic Disorders

Genetic disorders are caused by mutations or variations in an individual's genome. These disorders can have a wide range of symptoms, depending on the specific genetic variation and its effects on the body.

Some common symptoms of genetic disorders include:

• Developmental delays or intellectual disability
• Abnormal physical features or growth patterns
• Chronic medical conditions, such as diabetes or heart disease
• Increased susceptibility to infections or other illnesses
• Behavioral or psychiatric problems

Diagnosing genetic disorders can be challenging, as symptoms may be similar to those of other conditions or may not appear until later in life. Genetic testing, including human genome sequencing and variant calling, can help identify the underlying genetic cause of a disorder and guide treatment decisions.

Conclusion

Human genome sequencing and variant calling are powerful tools for understanding the genetic basis of disease and developing personalized treatment plans. DNA Labs India offers these services at a cost of INR 225,000, with accurate and reliable results delivered by our experienced team of geneticists.

If you or a loved one are experiencing symptoms of a genetic disorder, contact DNA Labs India to learn more about our genetic testing services and how they can help.