ABHD1 Gene Lung alpha-beta hydrolase deficiency type 1 NGS Genetic Test
Short Name: ABHD1 Gene NGS Test
ABHD1 Gene Lung alpha-beta hydrolase deficiency type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood 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
The purpose of the ABHD1 Gene NGS Genetic Test is to confirm the diagnosis of lung alpha-beta hydrolase deficiency type 1 by identifying mutations in the ABHD1 gene, aiding in clinical management, genetic counseling, and family planning for affected individuals.
- Test Code
- 2136
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
Ensure no recent blood transfusions or bone marrow transplants. Provide clinical history and family pedigree during genetic counseling.
Method: Venipuncture
Laboratory Analysis
Standard blood draw procedure using sterile techniques.
Report Delivery
Apply pressure to the puncture site to prevent bruising.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the ABHD1 Gene NGS Genetic Test is to confirm the diagnosis of lung alpha-beta hydrolase deficiency type 1 by identifying mutations in the ABHD1 gene, aiding in clinical management, genetic counseling, and family planning for affected individuals.
How to Prepare
- Fast for 8-12 hours if required by physician
- Bring valid ID and doctor's prescription
- Avoid strenuous activity before sample collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This NGS genetic test is essential for confirming diagnosis and guiding management in individuals with symptoms suggestive of lung alpha-beta hydrolase deficiency type 1, aiding in personalized treatment plans."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed samples
- Insufficient sample volume
- Improperly labeled tubes
Understanding Your Results
Normal
No pathogenic variants detected; reduces likelihood of lung alpha-beta hydrolase deficiency type 1.
Abnormal
Pathogenic variant detected; confirms diagnosis and may indicate disease severity.
Variant of Uncertain Significance
Genetic change found but significance unknown; requires further evaluation and counseling.
Consult a genetic specialist if symptoms persist, worsen, or if there is a family history of metabolic disorders.
Limitations
- ⚠May not detect all rare mutations
- ⚠Requires genetic counseling for interpretation
- ⚠Results not definitive for all clinical presentations
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Sample contamination
- ●DNA degradation
- ●Recent blood transfusions
Compare With Similar Tests
| Test | ABHD1 Gene Lung alpha-beta hydrolase deficiency type 1 NGS Genetic Test | Other Metabolic Disorder NGS Panels | Single Gene Sequencing for ABHD1 |
|---|---|---|---|
| Comparison | ABHD1 Gene Lung alpha-beta hydrolase deficiency type 1 NGS Genetic Test |
Frequently Asked Questions
What is ABHD1 Gene Lung alpha-beta hydrolase deficiency type 1?
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