Short Description

Sequencing library preparation, exome enrichment using Twist Human Core Exome Kit, 2x150 PE sequencing to generate 6Gb data. Alignment of QC filtered sequence data onto the reference genome, variant calling (SNVs and small InDels) and variant annotation. Results will be delivered as annotated VCF.

PreTest Information

Detail Description

Human Exome Sequencing and Analysis - Twist Human Core Exome Cost INR: 39000 Symptoms Diagnosis

DNA Labs India is a leading provider of genetic testing services, offering a range of tests to help diagnose and treat a variety of conditions. One of our most popular tests is human exome sequencing and analysis, using the Twist Human Core Exome kit. In this blog, we'll explain what this test is, how it works, and what it costs, as well as discussing the symptoms and diagnosis of conditions that can be detected using this test.

What is Human Exome Sequencing and Analysis?

Human exome sequencing and analysis is a type of genetic testing that looks at the exome, which is the part of the genome that codes for proteins. This is important because many genetic disorders are caused by mutations in genes that code for proteins, and by looking at the exome, we can identify these mutations and diagnose the condition.

The Twist Human Core Exome kit is a high-quality exome sequencing kit that covers more than 20,000 genes, making it an excellent tool for identifying genetic mutations that cause disease.

How Does Human Exome Sequencing and Analysis Work?

The process of human exome sequencing and analysis involves several steps:

1. Sample collection: A small blood or saliva sample is collected from the patient.
2. DNA extraction: The DNA is extracted from the sample using specialized techniques.
3. Library preparation: The DNA is prepared for sequencing by creating a library of fragments.
4. Sequencing: The DNA fragments are sequenced using high-throughput sequencing technology.
5. Analysis: The sequencing data is analyzed to identify genetic mutations that may be causing the patient's symptoms.

What Does Human Exome Sequencing and Analysis Cost?

At DNA Labs India, we offer human exome sequencing and analysis using the Twist Human Core Exome kit for a cost of INR 39,000. This includes all the steps involved in the testing process, as well as a detailed report of the results.

Symptoms and Diagnosis of Conditions Detected by Human Exome Sequencing and Analysis

Human exome sequencing and analysis can be used to diagnose a wide range of genetic conditions, including:

• Cancer
• Cardiovascular disease
• Neurological disorders
• Developmental disorders
• Metabolic disorders
• And many others

The symptoms of these conditions can vary widely, depending on the specific disorder. For example, cancer may present with symptoms such as unexplained weight loss, fatigue, and pain, while neurological disorders may cause symptoms such as seizures, tremors, and cognitive impairment.

Diagnosis of these conditions can be challenging, as many of them have overlapping symptoms and can be caused by multiple genetic mutations. However, human exome sequencing and analysis can help to identify the specific genetic mutations that are causing the patient's symptoms, allowing for more accurate diagnosis and personalized treatment.

Conclusion

Human exome sequencing and analysis using the Twist Human Core Exome kit is a powerful tool for diagnosing genetic conditions. At DNA Labs India, we offer this test for a cost of INR 39,000, and our team of experts is committed to providing accurate and reliable results to help our patients get the answers they need. If you're experiencing symptoms of a genetic condition or are concerned about your risk for developing one, contact us today to learn more about our genetic testing services.