Short Description

NGS genetic DNA test detecets for variant and mutation detection in GJA1 gene for Oculodentodigital dysplasia

PreTest Information

Clinical History of Patient who is going for GJA1 Gene Oculodentodigital dysplasia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GJA1 Gene Oculodentodigital dysplasia NGS Genetic DNA Test gene GJA1

Detail Description

GJA1 Gene Oculodentodigital Dysplasia NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Oculodentodigital dysplasia (ODDD) is a rare genetic disorder that affects multiple parts of the body. It is caused by mutations in the GJA1 gene, which encodes for a protein called connexin 43. This protein is important for the formation of gap junctions, which are channels that allow cells to communicate with each other. When connexin 43 is not functioning properly, it can lead to a variety of symptoms.

Symptoms of Oculodentodigital Dysplasia

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

• Abnormalities of the fingers and toes, such as fusion of the bones or shortened digits
• Abnormalities of the teeth, such as small or missing teeth
• Abnormalities of the eyes, such as microphthalmia (small eyes) or cataracts
• Developmental delays or intellectual disability
• Heart defects

These symptoms can be present at birth or may develop over time. They can also vary in severity, even among individuals with the same genetic mutation.

Diagnosis of Oculodentodigital Dysplasia

ODDD is diagnosed based on a combination of clinical symptoms and genetic testing. A doctor may suspect ODDD if a patient has a combination of the symptoms listed above. Genetic testing can confirm the diagnosis by identifying mutations in the GJA1 gene.

NGS Genetic DNA Test for Oculodentodigital Dysplasia

Next-generation sequencing (NGS) is a powerful tool for genetic testing. It allows for the simultaneous analysis of multiple genes, making it an efficient and cost-effective option for diagnosing genetic disorders like ODDD. A genetic test for ODDD using NGS technology can cost around INR 20,000.

NGS testing for ODDD involves sequencing the GJA1 gene to identify mutations that may be causing the disorder. This test can be performed using a blood sample or other biological samples. Results are usually available within a few weeks.

Conclusion

If you or a loved one is experiencing symptoms of ODDD, it is important to seek medical attention. A genetic test using NGS technology can provide a definitive diagnosis and help guide treatment options. DNA Labs India offers NGS genetic testing for ODDD at an affordable cost of INR 20,000. Contact us today to learn more.

Remember, early diagnosis and intervention can improve outcomes and quality of life for individuals with ODDD.

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 GJA1 Gene Oculodentodigital dysplasia NGS Genetic DNA Test