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DHTKD1 Gene 2-aminoadipic 2-oxoadipic aciduria NGS Genetic Test

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DHTKD1 Gene 2-aminoadipic 2-oxoadipic aciduria NGS Genetic Test

Short Name: DHTKD1 Gene 2-aminoadipic 2-oxoadipic aciduria NGS Test

Also known as: 2-aminoadipic 2-oxoadipic aciduria NGS Test, DHTKD1 Gene Mutation Test

DHTKD1 Gene 2-aminoadipic 2-oxoadipic aciduria NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) 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.

Next-Generation Sequencing (NGS)🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of this test is to identify mutations in the DHTKD1 gene that cause 2-aminoadipic 2-oxoadipic aciduria, enabling accurate diagnosis, genetic counseling, and informed management decisions for affected individuals and their families.

Test Code
4617
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required. Provide clinical history and family pedigree during genetic counseling.

Method: Venipuncture for blood, or provided FTA card

Step 2

Laboratory Analysis

Blood sample will be collected by a trained phlebotomist using standard venipuncture techniques.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding and avoid strenuous activity for a few hours.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling recommended before testing to discuss implications and family history.
2
During the Test:The test involves DNA extraction from the sample and sequencing using NGS technology.
3
After the Test:Results will be available in 3-4 weeks, and a genetic counselor will explain the findings.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the DHTKD1 gene that cause 2-aminoadipic 2-oxoadipic aciduria, enabling accurate diagnosis, genetic counseling, and informed management decisions for affected individuals and their families.

How to Prepare

  • No fasting required for this test
  • Bring identification and prescription if available
  • Ensure sample is properly labeled

Doctor's Notes

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

"This test is crucial for early diagnosis and management of 2-aminoadipic 2-oxoadipic aciduria, aiding in genetic counseling and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood or equivalent DNA sample
ContainerEDTA tube or FTA card
Collection MethodVenipuncture for blood, or provided FTA card

Sample Stability

Blood samples stable at room temperature for 24 hours
FTA cards stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of mutations in the DHTKD1 gene associated with 2-aminoadipic 2-oxoadipic aciduria.
Positive: Pathogenic variant detected, confirm diagnosis and consider genetic counseling
Negative: No pathogenic variant detected, but clinical correlation needed if symptoms persist
Variant of uncertain significance: Further testing or family studies recommended
⚠️ When to Consult a Doctor:

If symptoms persist, if there is a family history of metabolic disorders, or if results are positive, consult a geneticist or neurologist for further evaluation and management.

Limitations

  • ⚠May not detect all mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Not a diagnostic tool for all metabolic disorders

Risks & Considerations

  • ●Bruising at puncture site
  • ●Infection (rare)
  • ●Dizziness during blood draw

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample type

Frequently Asked Questions

What is the DHTKD1 Gene 2-aminoadipic 2-oxoadipic aciduria NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the DHTKD1 gene, which causes the rare metabolic disorder 2-aminoadipic 2-oxoadipic aciduria.
What are the symptoms of 2-aminoadipic 2-oxoadipic aciduria?
Symptoms include developmental delays, seizures, intellectual disability, muscle weakness, abnormal movements, and difficulty breathing.
How is the test performed?
The test involves collecting a blood or DNA sample, which is then analyzed using NGS technology to identify genetic variants in the DHTKD1 gene.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India, with home sample collection available.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What do the results mean?
Results indicate whether pathogenic variants are detected in the DHTKD1 gene. Positive results confirm the disorder, while negative results may require further clinical evaluation.
Is genetic counseling required?
Yes, genetic counseling is recommended before and after testing to discuss implications, family history, and result interpretation.
Who should take this test?
Individuals with symptoms of 2-aminoadipic 2-oxoadipic aciduria or a family history of the disorder should consider this test.
Are there any risks associated with the test?
Risks are minimal and include bruising at the puncture site, rare infection, or dizziness during blood draw.
How accurate is the test?
The test is highly accurate for detecting mutations in the DHTKD1 gene, but it may not identify all possible genetic variants.
What should I do if the test is positive?
If positive, consult a geneticist or neurologist for management options, genetic counseling, and family planning advice.
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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