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DDC Gene Aromatic L-amino acid decarboxylase deficiency (AADC) NGS Genetic Test

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DDC Gene Aromatic L-amino acid decarboxylase deficiency (AADC) NGS Genetic Test

Short Name: AADC Deficiency Genetic Test

Also known as: AADC Deficiency, Aromatic L-amino acid decarboxylase deficiency

DDC Gene Aromatic L-amino acid decarboxylase deficiency (AADC) NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

To identify mutations in the DDC gene for diagnosing Aromatic L-amino acid decarboxylase deficiency (AADC deficiency), enabling accurate diagnosis, disease management, and genetic counseling.

Test Code
4637
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

No special preparation required. Genetic counseling session recommended.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample will be drawn by a trained phlebotomist using sterile equipment.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Keep the area clean.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to understand the test implications and provide informed consent.
2
During the Test:The test involves sequencing the DDC gene using NGS technology to detect mutations.
3
After the Test:Results will be reviewed by a geneticist, and a detailed report will be generated with recommendations.

About This Test

Who Should Get This Test

To identify mutations in the DDC gene for diagnosing Aromatic L-amino acid decarboxylase deficiency (AADC deficiency), enabling accurate diagnosis, disease management, and genetic counseling.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection tubes
  • Label samples accurately

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early genetic diagnosis of AADC deficiency is crucial for managing symptoms and providing appropriate care. Consult a genetic counselor for personalized advice."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 ml of blood
ContainerEDTA tube for blood
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods at appropriate temperatures
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Contaminated sample

Understanding Your Results

Results indicate the presence or absence of mutations in the DDC gene associated with AADC deficiency.
Positive: Pathogenic variant detected, consistent with AADC deficiency diagnosis
Negative: No pathogenic variants detected, reducing likelihood of AADC deficiency
Variant of uncertain significance: Further testing or family studies may be needed
⚠️ When to Consult a Doctor:

If symptoms suggestive of AADC deficiency are present, or if there is a family history of the disorder.

Limitations

  • May not detect all genetic variants
  • Requires genetic counseling for interpretation
  • Results may not predict disease severity

Risks & Considerations

  • Bruising at puncture site
  • Rare infection risk
  • Psychological impact of results

Interfering Factors

  • Sample degradation
  • Contamination
  • Improper sample handling

Compare With Similar Tests

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ComparisonDDC Gene Aromatic L-amino acid decarboxylase deficiency (AADC) NGS Genetic Test

Frequently Asked Questions

What is AADC deficiency?
AADC deficiency is a rare genetic disorder caused by mutations in the DDC gene, leading to reduced production of neurotransmitters like dopamine and serotonin, resulting in neurological symptoms.
What causes AADC deficiency?
It is caused by mutations in the DDC gene, which encodes the aromatic L-amino acid decarboxylase enzyme essential for neurotransmitter synthesis.
What are the symptoms of AADC deficiency?
Symptoms include developmental delays, weak muscle tone, muscle spasms, involuntary movements, sleep disturbances, seizures, and oculogyric crises.
How is AADC deficiency diagnosed?
Diagnosis involves clinical evaluation, biochemical testing, and genetic testing such as NGS to identify mutations in the DDC gene.
What is NGS genetic testing?
NGS (Next-Generation Sequencing) is a technology that sequences multiple genes simultaneously to detect genetic mutations associated with disorders like AADC deficiency.
How accurate is the DDC gene NGS test?
NGS testing is highly accurate for detecting mutations in the DDC gene, but results should be interpreted by a genetic specialist.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card is required.
Is fasting required for the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What is the cost of the test in India?
The test costs INR 20000 at DNA Labs India, with free home sample collection available.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across India.
What should I do if the test is positive?
Consult a neurologist or genetic counselor for further evaluation, management options, and genetic counseling for family planning.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

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Your Data Privacy

Your medical data is protected under Indian law.

Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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