Short Description

NGS genetic DNA test detecets for variant and mutation detection in ZIC1 gene for Craniosynostosis type 6

PreTest Information

Clinical History of Patient who is going for ZIC1 Gene Craniosynostosis type 6 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ZIC1 Gene Craniosynostosis type 6 NGS Genetic DNA Test gene ZIC1

Detail Description

ZIC1 Gene Craniosynostosis Type 6 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Craniosynostosis Type 6 is a rare genetic condition that affects the development of the skull bones in infants. It is caused by mutations in the ZIC1 gene. This gene provides instructions for making a protein that plays a critical role in the formation of the skull bones. Mutations in this gene can cause abnormal development of the skull bones, leading to craniosynostosis.

Craniosynostosis Type 6 is inherited in an autosomal dominant pattern, which means that a child only needs to inherit one copy of the mutated gene from one parent to develop the condition. However, in some cases, the mutation can occur spontaneously, without any family history of the condition.

Symptoms of Craniosynostosis Type 6

The symptoms of Craniosynostosis Type 6 can vary from mild to severe, depending on the extent of the skull bone abnormalities. The most common symptoms include:

• Abnormal head shape
• Premature closure of one or more skull sutures
• Increased pressure inside the skull
• Developmental delays
• Vision problems
• Hearing problems
• Speech difficulties
• Seizures

Diagnosis of Craniosynostosis Type 6

Craniosynostosis Type 6 can be diagnosed through a physical examination of the infant's head shape and skull sutures. Additional diagnostic tests may include:

• CT scan of the head
• MRI of the head
• Genetic testing

NGS Genetic DNA Test for Craniosynostosis Type 6

Next Generation Sequencing (NGS) is a genetic testing method that allows for the sequencing of multiple genes simultaneously. This type of testing can be used to identify mutations in the ZIC1 gene that may be causing Craniosynostosis Type 6.

The cost of an NGS Genetic DNA Test for Craniosynostosis Type 6 in India is typically around INR 20000. This test is not covered by insurance and may need to be paid for out of pocket.

Conclusion

Craniosynostosis Type 6 is a rare genetic condition that affects the development of the skull bones in infants. It is caused by mutations in the ZIC1 gene. The symptoms of Craniosynostosis Type 6 can vary from mild to severe, and the condition can be diagnosed through a physical examination and diagnostic tests such as CT scans, MRIs, and genetic testing. NGS Genetic DNA Testing is a useful tool for identifying mutations in the ZIC1 gene that may be causing Craniosynostosis Type 6.

If you suspect that your child may have Craniosynostosis Type 6, it is important to seek medical attention as soon as possible. Early diagnosis and treatment can help to prevent complications and improve your child's quality of life.

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 ZIC1 Gene Craniosynostosis type 6 NGS Genetic DNA Test