Short Description

NGS genetic DNA test detecets for variant and mutation detection in CBS gene for Homocystinuria due to cystathionine beta-synthase deficiency

PreTest Information

Clinical History of Patient who is going for CBS Gene Homocystinuria due to cystathionine beta-synthase deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CBS Gene Homocystinuria due to cystathionine beta-synthase deficiency NGS Genetic DNA Test gene CBS

Detail Description

CBS Gene Homocystinuria due to Cystathionine Beta-Synthase Deficiency NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Homocystinuria is a rare genetic disorder that affects the body's ability to process certain amino acids. It is caused by a deficiency in the enzyme cystathionine beta-synthase (CBS) that is responsible for converting methionine to cysteine. This results in the buildup of homocysteine in the blood and urine, leading to a range of symptoms such as developmental delay, intellectual disability, and skeletal abnormalities.

What is the CBS Gene?

The CBS gene is located on chromosome 21 and encodes the CBS enzyme. Mutations in this gene can lead to a deficiency in CBS enzyme activity, resulting in homocystinuria. There are several different types of CBS gene mutations, and the severity of the disorder can vary depending on the specific mutation.

Symptoms of Homocystinuria

The symptoms of homocystinuria can vary widely, but some of the most common include:

• Developmental delay and intellectual disability
• Behavioral problems
• Skeletal abnormalities, such as tall stature and long limbs
• Eye problems, including myopia, lens dislocation, and glaucoma
• Seizures
• Thromboembolism, which is the formation of blood clots

Diagnosis of Homocystinuria

Homocystinuria is typically diagnosed through a combination of clinical evaluation, biochemical testing, and genetic testing. Biochemical testing involves measuring the levels of homocysteine and other amino acids in the blood and urine. Genetic testing can identify mutations in the CBS gene that are associated with the disorder.

NGS Genetic DNA Test for CBS Gene Homocystinuria

Next-generation sequencing (NGS) is a powerful genetic testing technology that can identify mutations in the CBS gene that are associated with homocystinuria. This test can be performed using a small blood or saliva sample, and results are typically available within a few weeks. The cost of the test is INR 20,000.

Conclusion

Homocystinuria is a rare genetic disorder that can cause a range of symptoms, including developmental delay, intellectual disability, and skeletal abnormalities. Diagnosis typically involves a combination of clinical evaluation, biochemical testing, and genetic testing. NGS genetic DNA testing for mutations in the CBS gene is a powerful tool for diagnosing homocystinuria and can be performed using a small blood or saliva sample.

If you suspect that you or a loved one may have homocystinuria, it is important to speak with a healthcare provider to determine the best course of action.

For more information about CBS Gene Homocystinuria due to Cystathionine Beta-Synthase Deficiency NGS Genetic DNA Test, contact DNA Labs India today.