Short Description

NGS genetic DNA test detecets for variant and mutation detection in PNPO gene for Pyridoxamine 5'-phosphate oxidase deficiency

PreTest Information

Clinical History of Patient who is going for PNPO Gene Pyridoxamine 5'-phosphate oxidase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Pyridoxamine 5'-phosphate oxidase deficiency

Detail Description

PNPO Gene Pyridoxamine 5'-phosphate oxidase deficiency NGS Genetic DNA Test cost INR:20000 symptoms diagnosis

PNPO Gene Pyridoxamine 5'-phosphate oxidase deficiency is a rare genetic disorder that affects the nervous system. It is caused by mutations in the PNPO gene, which is responsible for producing an enzyme called pyridoxamine 5'-phosphate oxidase. This enzyme is involved in the metabolism of vitamin B6, which is essential for the proper functioning of the nervous system.

NGS Genetic DNA Test is a test that helps in diagnosing PNPO Gene Pyridoxamine 5'-phosphate oxidase deficiency. This test analyzes the DNA sequence of the PNPO gene to identify any mutations that may be present. The cost of this test at DNA Labs India is INR 20000.

Symptoms of PNPO Gene Pyridoxamine 5'-phosphate oxidase deficiency

The symptoms of PNPO Gene Pyridoxamine 5'-phosphate oxidase deficiency vary from person to person. Some of the common symptoms include:

• Seizures
• Muscle weakness
• Developmental delay
• Intellectual disability
• Abnormal movements
• Dizziness
• Ataxia (lack of muscle control)
• Neurological problems

Diagnosis of PNPO Gene Pyridoxamine 5'-phosphate oxidase deficiency

PNPO Gene Pyridoxamine 5'-phosphate oxidase deficiency can be diagnosed through a combination of clinical evaluation, biochemical testing, and genetic testing. A physical examination may reveal neurological symptoms such as seizures, muscle weakness, or abnormal movements. Biochemical testing can measure the levels of vitamin B6 metabolites in the blood and urine. Genetic testing, such as NGS Genetic DNA Test, can identify mutations in the PNPO gene.

If you or your child is experiencing any of the symptoms of PNPO Gene Pyridoxamine 5'-phosphate oxidase deficiency, it is important to consult a doctor. DNA Labs India offers NGS Genetic DNA Test for the diagnosis of this rare genetic disorder at an affordable cost of INR 20000.

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 PNPO Gene Pyridoxamine 5'-phosphate oxidase deficiency NGS Genetic DNA Test