Short Description

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

PreTest Information

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

Detail Description

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

QDPR gene hyperphenylalaninemia, BH4 deficient, type C is a rare genetic disorder that affects the metabolism of the amino acid phenylalanine. This disorder is caused by mutations in the QDPR gene, which provides instructions for making an enzyme called quinoid dihydropteridine reductase (QDPR). This enzyme is essential for the production of tetrahydrobiopterin (BH4), which is required for the breakdown of phenylalanine.

BH4 deficiency can cause a buildup of phenylalanine in the blood and brain, leading to hyperphenylalaninemia. This can cause a range of symptoms, including intellectual disability, seizures, and movement disorders. BH4 deficiency can also affect the production of other neurotransmitters, such as dopamine and serotonin, which can lead to additional symptoms.

Symptoms of QDPR Gene Hyperphenylalaninemia, BH4 deficient, type C

The symptoms of QDPR gene hyperphenylalaninemia, BH4 deficient, type C can vary depending on the severity of the condition and the age of onset. Some of the common symptoms include:

• Intellectual disability
• Seizures
• Abnormal muscle tone
• Delayed development
• Movement disorders
• Hyperactivity
• Behavioral problems
• Depression

Diagnosis

QDPR gene hyperphenylalaninemia, BH4 deficient, type C can be diagnosed through genetic testing. Next-generation sequencing (NGS) genetic DNA testing is the most comprehensive and accurate method for identifying mutations in the QDPR gene.

NGS genetic DNA testing involves sequencing the entire QDPR gene to identify any mutations or variants that may be causing the disorder. This type of testing can also identify mutations in other genes that may be contributing to the condition.

Cost of NGS Genetic DNA Testing

The cost of NGS genetic DNA testing for QDPR gene hyperphenylalaninemia, BH4 deficient, type C in India is typically around INR 20,000. This cost may vary depending on the testing facility and the specific type of test that is ordered.

Conclusion

QDPR gene hyperphenylalaninemia, BH4 deficient, type C is a rare genetic disorder that can cause a range of symptoms, including intellectual disability, seizures, and movement disorders. NGS genetic DNA testing is the most comprehensive and accurate method for diagnosing this condition, and the cost of testing in India is typically around INR 20,000.

If you suspect that you or a loved one may have QDPR gene hyperphenylalaninemia, BH4 deficient, type C, it is important to speak with a genetic counselor or healthcare provider to discuss testing options and treatment options.

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 QDPR Gene Hyperphenylalaninemia, BH4 deficient, type C NGS Genetic DNA Test