Short Description

NGS genetic DNA test detecets for variant and mutation detection in PRKD1 gene for Congenital heart defects and ectodermal dysplasia

PreTest Information

Clinical History of Patient who is going for PRKD1 Gene Congenital heart defects and ectodermal dysplasia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PRKD1 Gene Congenital heart defects and ectodermal dysplasia NGS Genetic DNA Test gene PRKD1

Detail Description

PRKD1 Gene Congenital Heart Defects and Ectodermal Dysplasia NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Congenital heart defects (CHD) and ectodermal dysplasia (ED) are two genetic disorders that affect a significant number of individuals worldwide. These disorders can be caused by mutations in the PRKD1 gene, which encodes for a protein kinase that plays a crucial role in heart development and ectodermal tissue formation.

Symptoms of PRKD1 Gene Mutations

The symptoms of PRKD1 gene mutations can vary depending on the severity of the mutation. Some common symptoms of PRKD1 gene mutations include:

• Heart defects, such as atrial septal defect, ventricular septal defect, and tetralogy of Fallot
• Ectodermal dysplasia, which can cause abnormalities in the skin, hair, nails, teeth, and sweat glands
• Developmental delays
• Intellectual disabilities
• Seizures

Diagnosis of PRKD1 Gene Mutations

Diagnosis of PRKD1 gene mutations can be done through genetic testing. Next-generation sequencing (NGS) is a powerful tool that can detect mutations in the PRKD1 gene with high accuracy. NGS can also detect other genetic variants that may contribute to CHD and ED.

DNA Labs India's NGS Genetic DNA Test

DNA Labs India offers an NGS genetic DNA test that can detect mutations in the PRKD1 gene. The test costs INR 20,000 and includes a comprehensive analysis of the patient's DNA. The results of the test can help clinicians make an accurate diagnosis and develop an effective treatment plan.

Conclusion

PRKD1 gene mutations can cause congenital heart defects and ectodermal dysplasia, two genetic disorders that can significantly impact a patient's quality of life. DNA Labs India's NGS genetic DNA test can detect mutations in the PRKD1 gene with high accuracy, helping clinicians diagnose and treat these disorders effectively.

If you suspect that you or a loved one may have a PRKD1 gene mutation, speak to your healthcare provider about DNA Labs India's NGS genetic DNA test.

Remember, early diagnosis and treatment can make a significant difference in managing the symptoms of these disorders.

For more information about DNA Labs India's NGS genetic DNA test, please visit our website or contact us today.