ABCA12 Gene Ichthyosis congenital, Harlequin fetus type NGS Genetic Test
Short Name: ABCA12 Gene Test
Also known as: Harlequin Ichthyosis, ABCA12 Gene Mutation Test, Congenital Ichthyosis Type
ABCA12 Gene Ichthyosis congenital, Harlequin fetus type NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in 3-4 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 ABCA12 gene NGS genetic test is to confirm the presence of mutations in the ABCA12 gene, which causes Harlequin ichthyosis. This test aids in accurate diagnosis, guides treatment decisions, facilitates genetic counseling, and helps in family planning by identifying carriers of the mutation.
- Test Code
- 4991
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- 3-4 weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No specific preparation required. Ensure patient identification and consent are obtained.
Method: Venipuncture
Laboratory Analysis
Blood sample collected via venipuncture by a trained phlebotomist. Use standard aseptic techniques.
Report Delivery
Label the sample correctly and transport to the laboratory at ambient temperature. Avoid hemolysis.
Timeline: 3-4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the ABCA12 gene NGS genetic test is to confirm the presence of mutations in the ABCA12 gene, which causes Harlequin ichthyosis. This test aids in accurate diagnosis, guides treatment decisions, facilitates genetic counseling, and helps in family planning by identifying carriers of the mutation.
How to Prepare
- Verify patient identity and test order
- Use appropriate blood collection tubes
- Mix sample gently to prevent clotting
- Store at room temperature until transport
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing is crucial for early diagnosis and management of Harlequin Ichthyosis, enabling timely intervention and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Incorrectly labeled or unlabeled samples
- Insufficient sample volume
- Samples collected in wrong container
Understanding Your Results
Positive for pathogenic ABCA12 mutation
Confirms diagnosis of Harlequin ichthyosis. Genetic counseling and management strategies should be implemented.
Negative for pathogenic mutations
No ABCA12 mutations detected. Clinical correlation is advised, and other genetic or non-genetic causes may be considered.
Variant of uncertain significance (VUS)
Genetic variant identified but clinical significance is unknown. Further testing or family studies may be recommended.
Consult a doctor immediately if a newborn shows symptoms of Harlequin ichthyosis, such as severe skin thickening and cracking. For positive test results, seek genetic counseling for management and family planning.
Limitations
- ⚠May not detect all possible mutations in the ABCA12 gene
- ⚠Cannot predict disease severity or progression with certainty
- ⚠Results require interpretation by a qualified geneticist
- ⚠Limited to known genetic variants in the database
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or infection
- ●Emotional impact of genetic test results
- ●Potential for uncertain results requiring further testing
Interfering Factors
- ●Sample contamination during collection or transport
- ●Degraded DNA due to improper storage
- ●Presence of inhibitors in the blood sample
Frequently Asked Questions
What is the ABCA12 gene test for Harlequin ichthyosis?
Who should get this test?
What is the cost of the test at DNA Labs India?
How is the test performed?
What are the symptoms of Harlequin ichthyosis?
Is home sample collection available?
How long does it take to get results?
What does a positive result mean?
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₹20,000Reference Laboratory Services
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.
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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