AMACR Gene Alpha-methylacyl CoA racemase deficiency NGS Genetic Test
Short Name: AMACR Deficiency NGS Test
Also known as: AMACR deficiency, Alpha-methylacyl CoA racemase deficiency
AMACR Gene Alpha-methylacyl CoA racemase deficiency 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To diagnose Alpha-methylacyl CoA racemase deficiency by detecting mutations in the AMACR gene through Next Generation Sequencing (NGS) technology, enabling early management and genetic counseling.
- Test Code
- 1886
- 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)
Sample Collection
Inform the doctor about any medications or supplements. No specific preparation is needed for blood or saliva collection.
Method: Blood draw or saliva collection
Laboratory Analysis
A blood sample will be drawn from a vein, or a saliva sample will be collected using a provided kit following standard procedures.
Report Delivery
Apply pressure to the puncture site to prevent bleeding for blood collection. For saliva, follow kit instructions and store appropriately.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Alpha-methylacyl CoA racemase deficiency by detecting mutations in the AMACR gene through Next Generation Sequencing (NGS) technology, enabling early management and genetic counseling.
How to Prepare
- Ensure hands are clean for saliva collection
- Avoid eating or drinking 30 minutes before saliva collection
- For blood, fasting is not required
- Label the sample correctly with patient details
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for AMACR deficiency is essential for early intervention and management of metabolic symptoms."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample hemolyzed
- Insufficient volume
- Improper labeling
- Contaminated sample
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of AMACR deficiency. Genetic counseling and specialist management are recommended.
Negative
No pathogenic variants detected. Clinical correlation advised if symptoms persist, as other conditions may be present.
Variant of uncertain significance (VUS)
Further testing, family studies, and clinical evaluation may be required for clarification.
Consult a geneticist or metabolic specialist if test results are positive, if symptoms suggestive of metabolic disorder are present, or for genetic counseling and family planning.
Limitations
- ⚠May not detect all mutation types such as large deletions or inversions
- ⚠False negatives possible in rare cases
- ⚠Requires genetic counseling for accurate interpretation
Risks & Considerations
- ●Minimal risks from blood draw: bruising, soreness, or rare infection at puncture site
- ●No significant risks associated with saliva collection
Interfering Factors
- ●Contaminated sample
- ●Degraded DNA
- ●Hemolyzed blood sample
Frequently Asked Questions
What is AMACR Gene Alpha-methylacyl CoA racemase deficiency?
How is AMACR deficiency diagnosed?
What is the cost of the NGS Genetic Test at DNA Labs India?
Is home sample collection available for this test?
What are the common symptoms of AMACR deficiency?
How long does it take to get test results?
Is genetic counseling provided with the test?
What samples are accepted for the AMACR gene test?
Are there any risks associated with this genetic test?
How accurate is the NGS Genetic Test for AMACR deficiency?
Can this test be used for prenatal diagnosis?
What should I do if the test result is positive?
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