ABCA12 Gene Ichthyosis, lamellar type 2 NGS Genetic Test
ABCA12 Gene Ichthyosis, lamellar type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in 3 to 4 Weeks. 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 ABCA12 Gene Ichthyosis, Lamellar Type 2 NGS Genetic Test is to accurately diagnose lamellar ichthyosis type 2 by detecting mutations in the ABCA12 gene. This helps in confirming the disorder, guiding treatment plans, facilitating genetic counseling, and assessing family risk. It enables early intervention and management to improve quality of life for patients.
- Test Code
- 2417
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with ABCA12 gene mutations.
Laboratory Analysis
Your sample is analyzed using Next-Generation Sequencing (NGS) in our laboratory.
Report Delivery
A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the ABCA12 Gene Ichthyosis, Lamellar Type 2 NGS Genetic Test is to accurately diagnose lamellar ichthyosis type 2 by detecting mutations in the ABCA12 gene. This helps in confirming the disorder, guiding treatment plans, facilitating genetic counseling, and assessing family risk. It enables early intervention and management to improve quality of life for patients.
How to Prepare
- Provide detailed clinical history of the patient
- Undergo genetic counseling session for pedigree chart analysis
- Ensure blood sample is collected in a sterile environment
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Understanding Your Results
Positive for pathogenic variants
Confirms diagnosis of lamellar ichthyosis type 2; genetic counseling and management advised.
Negative for pathogenic variants
No mutations detected; clinical correlation and further testing may be considered if symptoms persist.
Consult a dermatologist or geneticist if symptoms such as dry, scaly skin, itching, or hair loss appear at birth or in early infancy, especially with a family history of ichthyosis.
Frequently Asked Questions
What is ABCA12 Gene Ichthyosis, Lamellar Type 2?
What are the common symptoms of this disorder?
How is ABCA12 Gene Ichthyosis diagnosed?
What is the cost of the ABCA12 Gene Ichthyosis NGS Genetic Test?
Is the test covered by insurance?
How long does it take to get the test results?
What sample is required for the test?
Is home sample collection available?
Who should consider taking this test?
What is the accuracy of the NGS Genetic Test?
Are there any risks associated with the test?
How should I prepare for the test?
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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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