Short Description

NGS genetic DNA test detecets for variant and mutation detection in PCBD1 gene for Hyperphenylalaninemia, BH4 deficient, type D

PreTest Information

Clinical History of Patient who is going for PCBD1 Gene Hyperphenylalaninemia, BH4 deficient, type D NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Hyperphenylalaninemia, BH4 deficient, type D

Detail Description

PCBD1 Gene Hyperphenylalaninemia, BH4 deficient, type D NGS Genetic DNA Test cost INR:20000 symptoms diagnosis

PCBD1 Gene Hyperphenylalaninemia is a rare genetic disorder that affects the body's ability to break down phenylalanine, an amino acid found in many foods. This disorder is caused by mutations in the PCBD1 gene, which provides instructions for making an enzyme called 6-pyruvoyl-tetrahydropterin synthase (PTPS). PTPS is essential for the production of tetrahydrobiopterin (BH4), a molecule that helps the body break down phenylalanine.

Symptoms of PCBD1 Gene Hyperphenylalaninemia

The symptoms of PCBD1 Gene Hyperphenylalaninemia can vary from mild to severe and may include:

• Delayed development
• Intellectual disability
• Muscle stiffness or spasticity
• Tremors
• Seizures
• Abnormal movements
• Behavioral problems
• Hyperactivity
• Skin rashes

Diagnosis of PCBD1 Gene Hyperphenylalaninemia

PCBD1 Gene Hyperphenylalaninemia is diagnosed through genetic testing. The most commonly used test is Next-Generation Sequencing (NGS). NGS is a powerful tool that allows researchers to analyze the entire DNA sequence of an individual. This test can detect mutations in the PCBD1 gene and other genes associated with hyperphenylalaninemia.

NGS Genetic DNA Test cost INR:20000

The cost of the NGS Genetic DNA test for PCBD1 Gene Hyperphenylalaninemia is INR:20000. This test is performed by DNA Labs India, a leading genetic testing laboratory in India. The test is highly accurate and can detect mutations in the PCBD1 gene with a sensitivity of over 99%. The results of the test are usually available within two weeks.

Conclusion

PCBD1 Gene Hyperphenylalaninemia is a rare genetic disorder that can cause a range of symptoms, from mild to severe. The disorder is caused by mutations in the PCBD1 gene, which provides instructions for making an enzyme called PTPS. NGS is a powerful tool for diagnosing PCBD1 Gene Hyperphenylalaninemia, and the test is available at DNA Labs India for INR:20000. If you suspect that you or your child may have PCBD1 Gene Hyperphenylalaninemia, it is important to talk to your doctor about genetic testing.

For more information, visit the DNA Labs India website.

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 PCBD1 Gene Hyperphenylalaninemia, BH4 deficient, type D NGS Genetic DNA Test