ALDH18A1 Gene Cutis laxa type 3A, autosomal recessive NGS Genetic Test
Short Name: ALDH18A1 Cutis Laxa Type 3A NGS Test
Also known as: ARCL3A, Cutis Laxa Type 3A
ALDH18A1 Gene Cutis laxa type 3A, autosomal recessive 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 ALDH18A1 Gene Cutis Laxa Type 3A NGS Genetic Test is to detect mutations in the ALDH18A1 gene for accurate diagnosis of autosomal recessive cutis laxa type 3A, guiding clinical management and genetic counseling.
- Test Code
- 4882
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
Clinical history of patient and a genetic counseling session to draw a pedigree chart of family members affected with ALDH18A1 Gene Cutis Laxa Type 3A.
Method: Venipuncture
Laboratory Analysis
Standard blood draw procedure under ambient room temperature conditions.
Report Delivery
Apply pressure to the puncture site to prevent bleeding; monitor for any adverse reactions.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the ALDH18A1 Gene Cutis Laxa Type 3A NGS Genetic Test is to detect mutations in the ALDH18A1 gene for accurate diagnosis of autosomal recessive cutis laxa type 3A, guiding clinical management and genetic counseling.
How to Prepare
- Maintain ambient room temperature
- No fasting required
- Provide detailed clinical history
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for ALDH18A1 mutations is crucial for early diagnosis and management of Cutis Laxa Type 3A, especially in families with a history of connective tissue disorders."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Insufficient volume
- Improper labeling
Understanding Your Results
Positive for pathogenic mutation
Confirms diagnosis of ALDH18A1 Gene Cutis Laxa Type 3A; genetic counseling recommended.
Negative for pathogenic mutation
No mutation detected; clinical correlation and additional tests may be needed.
Variant of uncertain significance
Further evaluation and family studies recommended.
Consult a doctor if symptoms such as loose skin, poor wound healing, or developmental delays are present, or if there is a family history of cutis laxa.
Limitations
- ⚠Test may not detect all genetic variants
- ⚠Results require clinical correlation
Risks & Considerations
- ●Minor bruising at puncture site
- ●Rare infection risk
Frequently Asked Questions
What is ALDH18A1 Gene Cutis Laxa Type 3A?
How is the NGS Genetic Test performed?
What is the cost of the test?
Is home sample collection available?
How long does it take to get results?
What are the common symptoms?
Is the test accurate?
Can this test be used for prenatal diagnosis?
What if the test result is positive?
Is genetic counseling provided?
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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.
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