FBLN5 Gene Cutis laxa type 1A, autosomal recessive NGS Genetic Test
Short Name: FBLN5 Cutis Laxa Type 1A NGS Test
Also known as: Cutis Laxa Type 1A, FBLN5-related Cutis Laxa, Autosomal Recessive Cutis Laxa Type 1A
FBLN5 Gene Cutis laxa type 1A, autosomal recessive NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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
The purpose of the FBLN5 Gene Cutis Laxa Type 1A NGS Genetic Test is to detect mutations in the FBLN5 gene that cause autosomal recessive Cutis Laxa Type 1A. This test aids in confirming diagnosis, differentiating from other connective tissue disorders, guiding treatment plans, and providing genetic counseling for family planning.
- Test Code
- 4877
- 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
- NGS Technology
Sample Collection
Consult with a healthcare provider or genetic counselor to discuss symptoms, family history, and test implications. No specific preparation is required, but ensure proper identification and consent.
Method: Venipuncture or finger-prick
Laboratory Analysis
A blood sample will be drawn from a vein in the arm using a sterile needle. For FTA card collection, a small drop of blood is placed on the card. The procedure is quick and minimally invasive.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Keep the area clean. Store the sample as instructed and await results. Follow up with your physician for result interpretation.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the FBLN5 Gene Cutis Laxa Type 1A NGS Genetic Test is to detect mutations in the FBLN5 gene that cause autosomal recessive Cutis Laxa Type 1A. This test aids in confirming diagnosis, differentiating from other connective tissue disorders, guiding treatment plans, and providing genetic counseling for family planning.
How to Prepare
- Ensure patient is comfortably seated
- Use aseptic technique for blood draw
- Label sample correctly with patient details
- Transport sample to lab at ambient temperature
- For FTA card, allow blood to dry completely before packaging
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for FBLN5 gene mutations is essential for confirming Cutis Laxa Type 1A diagnosis, guiding management, and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Incorrectly labeled or unlabeled sample
- Contaminated sample
- Sample not stored as required
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of Cutis Laxa Type 1A due to FBLN5 mutation. Genetic counseling and management recommended.
Negative for pathogenic variant
No FBLN5 mutations detected. Consider other genetic causes or clinical diagnosis.
Variant of uncertain significance (VUS)
A genetic variant was found but its clinical significance is unknown. Further testing and family studies may be needed.
Consult a doctor if you or your child exhibits symptoms of Cutis Laxa, such as loose skin, premature aging, or associated organ problems. Also, seek advice if there is a family history of the disorder or after receiving test results for proper management.
Limitations
- ⚠Test may not detect all possible mutations in the FBLN5 gene
- ⚠Results require interpretation by a genetic counselor or specialist
- ⚠Does not assess for other genetic causes of Cutis Laxa
- ⚠Variant of uncertain significance (VUS) may be reported
Risks & Considerations
- ●Minimal risk from blood draw, such as slight pain, bruising, or infection at the puncture site
- ●No significant risks associated with the genetic test itself
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Incorrect sample storage
- ●Hemolyzed blood sample
Frequently Asked Questions
What is FBLN5 Gene Cutis Laxa Type 1A?
What are the common symptoms?
How is the test performed?
What is the cost of the test?
Is fasting required before the test?
How long does it take to get results?
Is home sample collection available?
What does a positive result mean?
Can the test detect all mutations?
Is genetic counseling recommended?
Is the test covered by insurance?
Who should take this test?
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