Short Description

NGS genetic DNA test detecets for variant and mutation detection in CTH gene for Cystathioninuria

PreTest Information

Clinical History of Patient who is going for CTH Gene Cystathioninuria NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Cystathioninuria

Detail Description

CTH Gene Cystathioninuria NGS Genetic DNA Test Cost INR:20000 | Symptoms & Diagnosis | DNA Labs India

Introduction

Cystathioninuria is a metabolic disorder that affects the way the body processes the amino acid cystathionine. This condition is caused by mutations in the CTH gene, which provides instructions for making the enzyme cystathionase. Cystathionase is responsible for breaking down cystathionine into other compounds that can be used by the body. Mutations in the CTH gene can result in reduced or absent cystathionase activity, leading to an accumulation of cystathionine in the blood and urine.

At DNA Labs India, we offer a CTH Gene Cystathioninuria NGS Genetic DNA Test that can detect mutations in the CTH gene and diagnose cystathioninuria. This test is performed using the latest Next-Generation Sequencing (NGS) technology and is available at an affordable cost of INR 20000.

Symptoms of Cystathioninuria

Some of the common symptoms of cystathioninuria include:

• Abnormal urine odor
• Developmental delays
• Seizures
• Intellectual disability
• Behavioral problems
• Joint problems
• Eye abnormalities

It is important to note that not all individuals with cystathioninuria will experience these symptoms. Some individuals may have mild or no symptoms at all.

Diagnosis of Cystathioninuria

Cystathioninuria can be diagnosed through a variety of tests, including:

• Urine tests
• Blood tests
• Genetic testing

The CTH Gene Cystathioninuria NGS Genetic DNA Test offered by DNA Labs India is a genetic test that can detect mutations in the CTH gene and diagnose cystathioninuria. This test is performed using the latest Next-Generation Sequencing (NGS) technology and is available at an affordable cost of INR 20000.

Conclusion

Cystathioninuria is a metabolic disorder that can have serious consequences if left undiagnosed and untreated. At DNA Labs India, we offer an advanced CTH Gene Cystathioninuria NGS Genetic DNA Test that can detect mutations in the CTH gene and diagnose cystathioninuria. This test is performed using the latest Next-Generation Sequencing (NGS) technology and is available at an affordable cost of INR 20000. If you or someone you know is experiencing symptoms of cystathioninuria, it is important to seek medical attention and get tested as soon as possible.