Alpha Amino Adipic Aciduria Test
Short Name: Alpha Amino Adipic Aciduria
Also known as: Alpha-Aminoadipic Aciduria Test, 2-Aminoadipic Aciduria Test, DHTKD1 Gene Mutation Test
Alpha Amino Adipic Aciduria Test test available at DNA Labs India for ₹10,000. Uses Gas Chromatography-Mass Spectrometry (GC-MS), Genetic sequencing for DHTKD1 on Urine samples. Results in Results are typically available within 2 weeks after sample collection.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of the Alpha Amino Adipic Aciduria Test is to diagnose or rule out alpha amino adipic aciduria in individuals presenting with intellectual disability, seizures, or developmental delay. It also aids in carrier detection and prenatal diagnosis in families with known DHTKD1 mutations. Early detection allows for timely intervention and management of symptoms, improving quality of life.
- Test Code
- 6267
- CPT Code
- 84181
- ICD Code
- E72.3
- Price
- ₹10,000
- Sample Type
- Urine
- Result Time
- Results are typically available within 2 weeks after sample collection.
- Fasting Required
- No
- Method
- Gas Chromatography-Mass Spectrometry (GC-MS), Genetic sequencing for DHTKD1
Sample Collection
No special preparation required. However, inform your doctor about any medications or supplements. Avoid high-lysine foods for 24 hours prior to collection if possible.
Method: Clean catch midstream urine
Laboratory Analysis
Collect a clean catch midstream urine sample in the provided sterile container. For infants, use a pediatric urine collection bag.
Report Delivery
Store the sample in the refrigerator if immediate transport is not possible. The sample should be transported to the laboratory within 24 hours.
Timeline: Results are typically available within 2 weeks after sample collection.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the Alpha Amino Adipic Aciduria Test is to diagnose or rule out alpha amino adipic aciduria in individuals presenting with intellectual disability, seizures, or developmental delay. It also aids in carrier detection and prenatal diagnosis in families with known DHTKD1 mutations. Early detection allows for timely intervention and management of symptoms, improving quality of life.
How to Prepare
- Wash hands and genital area before collection
- Use the sterile container provided
- Collect midstream urine
- Tightly close the lid and label with name and date
- Keep sample cool until pickup
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Alpha amino adipic aciduria is a rare autosomal recessive disorder caused by DHTKD1 mutations. Early detection through urine organic acid analysis is crucial for managing neurological symptoms."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received after 24 hours without refrigeration
- Insufficient volume (<5 mL)
- Contaminated sample (e.g., feces, toilet water)
Understanding Your Results
Alpha-aminoadipic acid within reference range
Action: No further testing unless clinical suspicion remains
Levels above reference range
Action: Confirm with genetic testing for DHTKD1 mutations; refer to genetic counselor
Pathogenic variant in DHTKD1
Action: Diagnosis confirmed; initiate symptomatic management and family screening
Consult a doctor if you or your child experience unexplained intellectual disability, seizures, developmental delay, or muscle weakness. Early consultation can lead to timely diagnosis and management.
Limitations
- ⚠Elevated alpha-aminoadipic acid may also occur in other conditions (e.g., pyridoxine-dependent epilepsy)
- ⚠Genetic testing may not detect all DHTKD1 mutations
- ⚠Test results should be interpreted in conjunction with clinical findings
Risks & Considerations
- ●No significant risks associated with urine collection
- ●Possible discomfort during sample collection in infants
Interfering Factors
- ●Recent intake of lysine-rich foods (e.g., meat, dairy) may transiently elevate levels
- ●Poor sample collection or contamination
- ●Certain medications affecting organic acid metabolism
Compare With Similar Tests
| Test | Alpha Amino Adipic Aciduria Test | Amino Acid Profile (Plasma) | Urine Organic Acids | Lysine Loading Test |
|---|---|---|---|---|
| Comparison | Alpha Amino Adipic Aciduria Test |
Frequently Asked Questions
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