PNPLA1 Gene Ichthyosis congenital, autosomal recessive, PNPLA1 related NGS Genetic Test
Short Name: PNPLA1 Ichthyosis Genetic Test
Also known as: Ichthyosis congenital PNPLA1 type, Autosomal recessive ichthyosis PNPLA1, PNPLA1-related ichthyosis
PNPLA1 Gene Ichthyosis congenital, autosomal recessive, PNPLA1 related 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
To confirm a diagnosis of PNPLA1 gene ichthyosis congenital or to determine carrier status for the condition, aiding in clinical management and genetic counseling.
- Test Code
- 4992
- 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
No specific preparation required. Provide clinical history and family pedigree information during genetic counseling.
Method: Venipuncture
Laboratory Analysis
A blood sample will be drawn from a vein in the arm, or a drop of blood on an FTA card may be used. The process is quick and minimally invasive.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Resume normal activities immediately. Store samples as instructed if self-collected.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To confirm a diagnosis of PNPLA1 gene ichthyosis congenital or to determine carrier status for the condition, aiding in clinical management and genetic counseling.
How to Prepare
- Ensure proper identification of the patient
- Use sterile equipment for blood draw
- Label samples correctly with patient details
- Transport samples at ambient temperature unless specified otherwise
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for PNPLA1 mutations is essential for accurate diagnosis of ichthyosis congenital and informed family planning decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Hemolyzed or clotted blood samples
- Incorrect labeling or missing patient information
- Contaminated or degraded samples
Understanding Your Results
Pathogenic mutation detected
Confirms diagnosis of PNPLA1 gene ichthyosis congenital if symptomatic, or indicates carrier status if asymptomatic.
No pathogenic mutation detected
Reduces likelihood of PNPLA1-related ichthyosis, but does not exclude other genetic causes.
Variant of uncertain significance (VUS)
Requires further evaluation and genetic counseling; may need family studies.
Carrier status identified
Individual carries one mutated copy; risk of passing to offspring if partner is also a carrier.
Consult a dermatologist or geneticist if you experience persistent dry, scaly skin, have a family history of ichthyosis, or receive a positive genetic test result for guidance on management and family planning.
Limitations
- ⚠May not detect all possible mutations in the PNPLA1 gene
- ⚠Results require interpretation by a genetic counselor or specialist
- ⚠Does not rule out other genetic causes of ichthyosis
- ⚠Limited to known pathogenic variants in databases
Risks & Considerations
- ●Minimal risk from blood draw, such as slight pain or bruising
- ●Psychological impact of genetic results; counseling recommended
Interfering Factors
- ●Sample contamination during collection or transport
- ●Degraded DNA due to improper storage
- ●Hemolyzed blood samples
- ●Recent blood transfusions affecting DNA analysis
Compare With Similar Tests
| Test | PNPLA1 Gene Ichthyosis congenital, autosomal recessive, PNPLA1 related NGS Genetic Test | ||||
|---|---|---|---|---|---|
| Comparison | PNPLA1 Gene Ichthyosis congenital, autosomal recessive, PNPLA1 related NGS Genetic Test | Invasive; examines skin structure but may not identify genetic cause. | Targeted but slower; NGS is more comprehensive for multiple genes. | Non-invasive but may not confirm genetic etiology. | May include multiple genes; PNPLA1-specific test is focused. |
Frequently Asked Questions
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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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