Short Description

NGS genetic DNA test detecets for variant and mutation detection in TTC21B gene for Nephronophthisis type 12

PreTest Information

Clinical History of Patient who is going for TTC21B Gene Nephronophthisis type 12 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TTC21B Gene Nephronophthisis type 12 NGS Genetic DNA Test gene TTC21B

Detail Description

TTC21B Gene Nephronophthisis type 12 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Nephronophthisis type 12 is a rare genetic disorder that affects the kidneys. It is caused by mutations in the TTC21B gene, which provides instructions for making a protein that is important for the function of cilia. Cilia are tiny, hair-like structures that help move fluids through the kidneys. When the TTC21B gene is mutated, cilia function is impaired, leading to the development of nephronophthisis type 12.

Symptoms of Nephronophthisis type 12

The symptoms of nephronophthisis type 12 typically develop in childhood or adolescence and include:

• Increased urination
• Excessive thirst
• Weakness
• Fatigue
• Shortness of breath
• Anemia
• High blood pressure
• Swelling in the legs and ankles
• Decreased urine output
• Abdominal pain

Diagnosis of Nephronophthisis type 12

Nephronophthisis type 12 is diagnosed through genetic testing. A genetic test can identify mutations in the TTC21B gene that are associated with the disorder. In addition to genetic testing, other tests may be performed to evaluate kidney function, such as:

• Urinalysis
• Blood tests
• Imaging tests, such as ultrasound or CT scan
• Biopsy

NGS Genetic DNA Test Cost INR:20000

The NGS genetic DNA test for nephronophthisis type 12 that includes testing for mutations in the TTC21B gene costs INR:20000 at DNA Labs India. This test uses Next Generation Sequencing (NGS) technology to analyze the DNA sequence of the TTC21B gene and identify any mutations that may be present.

Conclusion

Nephronophthisis type 12 is a rare genetic disorder that affects the kidneys. It is caused by mutations in the TTC21B gene, which can be identified through genetic testing. Symptoms of the disorder typically develop in childhood or adolescence and include increased urination, excessive thirst, weakness, fatigue, and shortness of breath. The NGS genetic DNA test for nephronophthisis type 12 that includes testing for mutations in the TTC21B gene costs INR:20000 at DNA Labs India.

If you suspect that you or a loved one may have nephronophthisis type 12, it is important to speak with a medical professional to receive an accurate diagnosis and appropriate treatment.

Contact DNA Labs India today to learn more about genetic testing for nephronophthisis type 12 and other genetic disorders.

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 TTC21B Gene Nephronophthisis type 12 NGS Genetic DNA Test