Short Description

NGS genetic DNA test detecets for variant and mutation detection in GLI3 gene for Greig cephalopolysyndactyly syndrome

PreTest Information

Clinical History of Patient who is going for GLI3 Gene Greig cephalopolysyndactyly syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GLI3 Gene Greig cephalopolysyndactyly syndrome NGS Genetic DNA Test gene GLI3

Detail Description

GLI3 Gene Greig Cephalopolysyndactyly Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Greig cephalopolysyndactyly syndrome (GCPS) is a genetic disorder that affects the development of the limbs, head, and face. It is caused by mutations in the GLI3 gene, which plays a critical role in the formation of the limbs, face, and brain. GCPS is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene to develop the disorder.

Symptoms of GCPS

The symptoms of GCPS can vary widely from person to person, even among members of the same family. Some of the most common symptoms include:

• Extra fingers or toes (polydactyly)
• Abnormalities of the fingers and toes, such as webbing or fusion (syndactyly)
• Abnormalities of the skull and face, such as a large head (macrocephaly) or a prominent forehead
• Abnormalities of the eyes, such as widely spaced eyes (hypertelorism)
• Abnormalities of the ears, such as low-set ears or hearing loss

Some people with GCPS may also have intellectual disability or developmental delays, although these symptoms are typically mild.

Diagnosis of GCPS

GCPS is typically diagnosed based on a combination of clinical features and genetic testing. A doctor may order X-rays or other imaging tests to evaluate the bones and joints of the limbs, as well as the skull and face. Genetic testing can confirm the presence of a mutation in the GLI3 gene.

NGS Genetic DNA Test for GCPS

Next-generation sequencing (NGS) is a powerful tool for genetic testing that can analyze multiple genes at once, including the GLI3 gene. NGS testing for GCPS typically involves sequencing the entire coding region of the GLI3 gene to identify any mutations that may be causing the disorder. This type of testing can be done using a blood or saliva sample.

Cost of NGS Genetic DNA Test for GCPS

The cost of NGS genetic testing for GCPS can vary depending on the specific test and the laboratory performing the test. In India, the cost of NGS genetic testing for GCPS is typically around INR 20,000.

Conclusion

GCPS is a rare genetic disorder that can cause a range of symptoms affecting the limbs, head, and face. Diagnosis of GCPS typically involves a combination of clinical evaluation and genetic testing, including NGS sequencing of the GLI3 gene. The cost of NGS genetic testing for GCPS in India is around INR 20,000.

If you or a loved one has symptoms of GCPS or a family history of the disorder, talk to your doctor about genetic testing options.

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 GLI3 Gene Greig cephalopolysyndactyly syndrome NGS Genetic DNA Test