Short Description

NGS genetic DNA test detecets for variant and mutation detection in PAH gene for Phenylketonuria

PreTest Information

Clinical History of Patient who is going for PAH Gene Phenylketonuria NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Phenylketonuria

Detail Description

PAH Gene Phenylketonuria NGS Genetic DNA Test

Phenylketonuria (PKU) is an inherited metabolic disorder that affects the way the body processes phenylalanine, an amino acid found in many foods. PKU is caused by mutations in the phenylalanine hydroxylase (PAH) gene. The PAH gene provides instructions for making an enzyme called phenylalanine hydroxylase, which is responsible for converting phenylalanine to another amino acid called tyrosine. If the enzyme is not made or is not working properly, phenylalanine can build up in the body and cause damage to the brain and nervous system.

At DNA Labs India, we offer an NGS genetic DNA test for PAH gene mutations that can cause PKU. This test uses next-generation sequencing technology to analyze the entire coding region of the PAH gene and identify any mutations that may be present. Knowing whether a person has a mutation in the PAH gene can help with diagnosis and treatment of PKU.

Symptoms of PKU

PKU can cause a range of symptoms, including:

• Intellectual disability
• Delayed development
• Behavioral problems
• Seizures
• Skin rashes
• Musty odor in the breath, skin, and urine

These symptoms can vary in severity depending on the amount of phenylalanine in the body and the age at which treatment begins.

Diagnosis of PKU

PKU is usually diagnosed through newborn screening, which is done shortly after birth. The screening involves a blood test to measure the level of phenylalanine in the baby's blood. If the level is high, further testing is done to confirm the diagnosis.

If PKU is not diagnosed through newborn screening, it can be diagnosed later in life through a blood test that measures the level of phenylalanine in the blood. Genetic testing can also be done to look for mutations in the PAH gene.

Cost of NGS genetic DNA test for PAH gene mutations

The cost of the NGS genetic DNA test for PAH gene mutations at DNA Labs India is INR 20,000.

This test is not covered by insurance, but it may be eligible for reimbursement through a flexible spending account (FSA) or health savings account (HSA).

If you are interested in getting tested for PAH gene mutations or have any questions about the test, please contact us at DNA Labs India.

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 PAH Gene Phenylketonuria NGS Genetic DNA Test