Short Description

NGS genetic DNA test detecets for variant and mutation detection in GLYCTK gene for D-glyceric aciduria

PreTest Information

Clinical History of Patient who is going for GLYCTK Gene D-glyceric aciduria NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with D-glyceric aciduria

Detail Description

GLYCTK Gene D-glyceric aciduria NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

GLYCTK gene D-glyceric aciduria is a rare genetic disorder that affects the body's ability to break down certain amino acids. This disorder is caused by mutations in the GLYCTK gene, which provides instructions for making an enzyme that helps break down D-glyceric acid. Without this enzyme, D-glyceric acid builds up in the body, leading to a range of symptoms.

Symptoms of GLYCTK Gene D-glyceric aciduria

The symptoms of GLYCTK gene D-glyceric aciduria can vary widely from person to person. In some cases, individuals may not experience any symptoms at all. However, some of the most common symptoms of this disorder include:

• Developmental delay
• Intellectual disability
• Seizures
• Abnormal muscle tone
• Behavioral problems
• Abnormal gait

These symptoms can be mild or severe and may appear at any time during a person's life. Some individuals may experience symptoms from birth, while others may not develop symptoms until later in childhood or adulthood.

Diagnosis of GLYCTK Gene D-glyceric aciduria

Diagnosing GLYCTK gene D-glyceric aciduria can be challenging because it is a rare disorder. Doctors may suspect this disorder based on a person's symptoms, but a definitive diagnosis requires genetic testing.

Genetic testing for GLYCTK gene D-glyceric aciduria involves analyzing a person's DNA to look for mutations in the GLYCTK gene. This testing can be done using a variety of techniques, including next-generation sequencing (NGS).

NGS is a powerful genetic testing technique that can analyze large amounts of DNA quickly and accurately. This technique can identify mutations in the GLYCTK gene that may be responsible for a person's symptoms.

Cost of GLYCTK Gene D-glyceric aciduria NGS Genetic DNA Test

The cost of GLYCTK gene D-glyceric aciduria NGS genetic DNA testing can vary depending on the laboratory that performs the test. In India, the cost of this test typically ranges from INR 20,000 to INR 30,000.

It's important to note that this cost may not include other fees, such as consultation fees or fees for additional testing that may be necessary. It's also important to check with your insurance provider to see if they cover the cost of genetic testing.

Conclusion

GLYCTK gene D-glyceric aciduria is a rare genetic disorder that can cause a range of symptoms, including developmental delay, intellectual disability, seizures, and abnormal muscle tone. If you or a loved one is experiencing any of these symptoms, it's important to speak with a doctor to determine if genetic testing is necessary.

NGS genetic DNA testing is a powerful tool that can help diagnose GLYCTK gene D-glyceric aciduria. The cost of this testing can vary, but it is typically in the range of INR 20,000 to INR 30,000 in India. If you have any questions about genetic testing or the cost of testing, speak with your doctor or a genetic counselor.

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 GLYCTK Gene D-glyceric aciduria NGS Genetic DNA Test