DDC Gene Aromatic L-amino acid decarboxylase deficiency AADC Genetic Test
Welcome to DNA Labs UAE, where we offer the DDC Gene Aromatic L-amino acid decarboxylase deficiency (AADC) Genetic Test at a cost of AED 4400.0.
Test Details
The DDC gene Aromatic L-amino acid decarboxylase deficiency (AADC) NGS Genetic Test is a genetic test that analyzes the DDC gene for mutations associated with Aromatic L-amino acid decarboxylase deficiency (AADC). AADC is a rare genetic disorder that affects the production of dopamine and serotonin in the brain.
The test uses Next-Generation Sequencing (NGS) technology to sequence the DDC gene and identify any mutations or variations that may be present. This can help in the diagnosis of AADC and provide information about the specific genetic changes causing the condition.
The DDC gene provides instructions for making the enzyme AADC, which is involved in the production of dopamine and serotonin. Mutations in the DDC gene can lead to reduced or absent AADC activity, resulting in the symptoms of AADC deficiency.
Symptoms
Symptoms of AADC deficiency may include developmental delays, low muscle tone, movement disorders, autonomic dysfunction, and neurological abnormalities. The severity and specific symptoms can vary widely among affected individuals.
Test Type and Components
The DDC gene AADC NGS Genetic Test is classified as a Metabolic Disorders test and can be performed using blood or extracted DNA. Alternatively, one drop of blood on an FTA Card can also be used for the test.
Report Delivery and Method
The report for the DDC gene AADC NGS Genetic Test will be delivered within 3 to 4 weeks. The test utilizes NGS technology for analysis.
Test Department and Doctor
The DDC gene AADC NGS Genetic Test is conducted in the Genetics department and can be requested by a General Physician.
Pre Test Information
Before undergoing the DDC gene AADC NGS Genetic Test, it is important to provide the clinical history of the patient who is going for the test. Additionally, a Genetic Counselling session may be conducted to draw a pedigree chart of family members affected with Aromatic L-amino acid decarboxylase deficiency (AADC).
Uses of the Test
The DDC gene AADC NGS Genetic Test can be used for diagnostic purposes, as well as for carrier testing and prenatal testing in families with a known history of AADC deficiency. It can help to confirm a diagnosis, guide treatment decisions, and provide information about the risk of passing the condition to future generations.
It is important to note that genetic testing should be done in consultation with a healthcare professional or genetic counselor who can provide guidance on the implications of the test results and help with interpreting the findings.
Test Name | DDC Gene Aromatic L-amino acid decarboxylase deficiency AADC Genetic Test |
---|---|
Components | |
Price | 4400.0 AED |
Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card |
Report Delivery | 3 to 4 Weeks |
Method | NGS Technology |
Test type | Metabolic Disorders |
Doctor | General Physician |
Test Department: | Genetics |
Pre Test 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) |
Test Details |
DDC gene Aromatic L-amino acid decarboxylase deficiency (AADC) NGS Genetic Test is a genetic test that analyzes the DDC gene for mutations associated with Aromatic L-amino acid decarboxylase deficiency (AADC). AADC is a rare genetic disorder that affects the production of dopamine and serotonin in the brain. The test uses Next-Generation Sequencing (NGS) technology to sequence the DDC gene and identify any mutations or variations that may be present. This can help in the diagnosis of AADC and provide information about the specific genetic changes causing the condition. The DDC gene provides instructions for making the enzyme AADC, which is involved in the production of dopamine and serotonin. Mutations in the DDC gene can lead to reduced or absent AADC activity, resulting in the symptoms of AADC deficiency. Symptoms of AADC deficiency may include developmental delays, low muscle tone, movement disorders, autonomic dysfunction, and neurological abnormalities. The severity and specific symptoms can vary widely among affected individuals. The DDC gene AADC NGS Genetic Test can be used for diagnostic purposes, as well as for carrier testing and prenatal testing in families with a known history of AADC deficiency. It can help to confirm a diagnosis, guide treatment decisions, and provide information about the risk of passing the condition to future generations. It is important to note that genetic testing should be done in consultation with a healthcare professional or genetic counselor who can provide guidance on the implications of the test results and help with interpreting the findings. |