Short Description

NGS genetic DNA test detecets for variant and mutation detection in TWIST1 gene for Craniosynostosis type 1

PreTest Information

Clinical History of Patient who is going for TWIST1 Gene Craniosynostosis type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TWIST1 Gene Craniosynostosis type 1 NGS Genetic DNA Test gene TWIST1

Detail Description

Understanding TWIST1 Gene and Craniosynostosis Type 1 NGS Genetic DNA Test Cost in India

Craniosynostosis is a medical condition where the bones in a baby’s skull fuse too soon, leading to abnormal head shape and potential developmental delays. It affects about 1 in 2,000 babies worldwide. One of the known genetic causes of craniosynostosis is mutations in the TWIST1 gene.

The TWIST1 gene provides instructions for making a protein that plays a crucial role in the early development of bones and other tissues in the body. Mutations in this gene can alter the function of the protein, leading to the premature fusion of skull bones in affected individuals.

NGS (Next-Generation Sequencing) genetic testing is a powerful tool that can be used to identify mutations in the TWIST1 gene and diagnose craniosynostosis type 1. This test can provide valuable information for families and healthcare providers, allowing for early intervention and management of the condition.

Symptoms of Craniosynostosis Type 1

The symptoms of craniosynostosis type 1 can vary depending on the severity of the condition. Some common signs and symptoms include:

• Abnormal head shape, such as a long and narrow head or a short and wide head
• Visible ridges or seams on the skull
• Delayed developmental milestones
• Increased pressure inside the skull, which can lead to headaches, vomiting, and irritability

It’s important to note that some babies with craniosynostosis type 1 may not show any symptoms at birth and the condition may only become apparent as they grow and develop.

Diagnosis of Craniosynostosis Type 1

If your baby is showing signs of craniosynostosis type 1, your healthcare provider may refer you to a specialist for further evaluation. Diagnosis typically involves a physical exam and imaging tests such as X-rays, CT scans, or MRI scans.

NGS genetic testing can also be used to confirm a diagnosis of craniosynostosis type 1 by identifying mutations in the TWIST1 gene. This test can be particularly useful in cases where the diagnosis is uncertain or when there is a family history of the condition.

NGS Genetic DNA Test Cost in India

The cost of an NGS genetic DNA test for craniosynostosis type 1 can vary depending on the provider and location. In India, the cost of this test typically ranges from INR 15,000 to INR 25,000.

It’s important to note that genetic testing may not always be covered by insurance, so it’s important to check with your provider beforehand to understand the costs involved.

Conclusion

Craniosynostosis type 1 is a rare genetic condition that can have significant implications for a child’s development. Early diagnosis and intervention can be critical in managing the condition and improving outcomes for affected individuals. NGS genetic testing can provide valuable information for families and healthcare providers, allowing for more targeted and effective management of the condition.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for TWIST1 Gene Craniosynostosis type 1 NGS Genetic DNA Test