Short Description

NGS genetic DNA test detecets for variant and mutation detection in DDC gene for Aromatic L-amino acid decarboxylase deficiency (AADC)

PreTest Information

Clinical History of Patient who is going for DDC Gene Aromatic L-amino acid decarboxylase deficiency (AADC) NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Aromatic L-amino acid decarboxylase deficiency (AADC)

Detail Description

DDC Gene Aromatic L-amino acid decarboxylase deficiency (AADC) NGS Genetic DNA Test: Symptoms, Diagnosis and Cost in India

DDC Gene Aromatic L-amino acid decarboxylase deficiency (AADC) is a rare genetic disorder that affects the production of certain neurotransmitters in the brain. This disorder is caused by mutations in the DDC gene, which is responsible for producing the enzyme that converts certain amino acids into neurotransmitters.

Individuals with AADC deficiency may experience a range of symptoms including:

• Developmental delays
• Weak muscle tone
• Muscle spasms
• Involuntary movements
• Sleep disturbances
• Seizures
• Difficulty swallowing
• Delayed speech development

Diagnosis of AADC deficiency typically involves a combination of clinical evaluation, biochemical testing, and genetic testing. Clinical evaluation may include a physical exam, neurological exam, and assessment of developmental milestones. Biochemical testing may involve measuring the levels of certain neurotransmitters in the blood or cerebrospinal fluid. Genetic testing may involve sequencing the DDC gene to identify any mutations.

NGS Genetic DNA testing is a powerful tool for diagnosing AADC deficiency. This type of testing involves sequencing the entire DDC gene to identify any mutations that may be present. NGS testing is highly accurate and can detect even small mutations that may be missed by other types of testing.

The cost of NGS Genetic DNA testing for AADC deficiency in India is typically around INR 20,000. This may vary depending on the specific testing facility and the extent of testing that is performed.

In conclusion, AADC deficiency is a rare genetic disorder that can cause a range of neurological symptoms. Diagnosis typically involves a combination of clinical evaluation, biochemical testing, and genetic testing. NGS Genetic DNA testing is a highly accurate and effective tool for diagnosing this disorder. The cost of testing in India is typically around INR 20,000.

Aromatic L-amino acid decarboxylase deficiency (AADC deficiency) is a rare genetic disorder that affects the production of certain neurotransmitters in the brain, leading to a range of neurological symptoms. This disorder is caused by mutations in the DDC gene, which provides instructions for producing the enzyme aromatic L-amino acid decarboxylase.

The aromatic L-amino acid decarboxylase enzyme is essential for the production of neurotransmitters such as dopamine, serotonin, and norepinephrine. Mutations in the DDC gene lead to a deficiency in this enzyme, resulting in the reduced synthesis of these neurotransmitters.

NGS (Next-Generation Sequencing) Genetic DNA Testing is a technique used to analyze multiple genes simultaneously to identify genetic mutations or variations associated with specific conditions. In the context of AADC deficiency, NGS testing can help identify mutations in the DDC gene that are responsible for the disorder.

Symptoms of AADC deficiency can vary widely and may include:

• Developmental delays and intellectual disability.
• Movement abnormalities, including muscle stiffness, tremors, and difficulty with voluntary movements.
• Autonomic nervous system dysfunction, leading to issues with heart rate, blood pressure, and body temperature regulation.
• Sleep disturbances and seizures.
• Oculogyric crises (involuntary eye movements) and other neurological symptoms.

Genetic testing, including NGS-based testing, plays a crucial role in diagnosing genetic disorders like AADC deficiency. Identifying the specific genetic mutations responsible for the disorder can help with accurate diagnosis, understanding disease progression, and providing appropriate medical management and counseling.

If you or someone you know is suspected of having AADC deficiency or any other neurological disorder, it's important to consult a neurologist, medical geneticist, genetic counselor, or healthcare provider who specializes in genetics. They can guide you through the process of genetic testing, explain the results, and provide information about available treatments or interventions. Early diagnosis and supportive care are important for individuals with complex neurological disorders like AADC deficiency.