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ST14 Gene Ichthyosis, congenital, autosomal recessive, type 11 NGS Genetic Test

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ST14 Gene Ichthyosis, congenital, autosomal recessive, type 11 NGS Genetic Test

Short Name: ST14 Gene Ichthyosis NGS Test

Also known as: Congenital Ichthyosis Autosomal Recessive Type 11, ARCI11

ST14 Gene Ichthyosis, congenital, autosomal recessive, type 11 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.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To diagnose congenital ichthyosis autosomal recessive type 11 caused by ST14 gene mutations, enabling accurate management and genetic counseling.

Test Code
4998
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
Step 1

Sample Collection

Clinical history review and genetic counseling recommended to draw a pedigree chart.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or using an FTA card with one drop of blood.

Step 3

Report Delivery

Sample transported to the laboratory at ambient temperature for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications, informed consent, and pedigree chart preparation.
2
During the Test:Sample collection via blood draw or FTA card, followed by laboratory processing for NGS.
3
After the Test:Report generation within 3-4 weeks, with results available online and via consultation.

About This Test

Who Should Get This Test

To diagnose congenital ichthyosis autosomal recessive type 11 caused by ST14 gene mutations, enabling accurate management and genetic counseling.

How to Prepare

  • Ensure proper sample handling and labeling
  • Transport samples at room temperature
  • Follow lab-specific guidelines for FTA card use

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early genetic testing for ST14 gene mutations can aid in timely management and genetic counseling for congenital ichthyosis."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeNot specified
Collection MethodVenipuncture or FTA Card

Sample Stability

Blood: Stable for 24 hours at room temperature
FTA Card: Stable for extended periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improper labeling or documentation

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the ST14 gene, aiding in the diagnosis of congenital ichthyosis type 11.
📊

Positive

Pathogenic variant detected, confirming diagnosis of ST14 gene ichthyosis.

📊

Negative

No pathogenic variant detected; clinical correlation and further testing may be needed.

📊

Variant of Uncertain Significance (VUS)

Genetic variant found but significance unclear; requires follow-up and genetic counseling.

⚠️ When to Consult a Doctor:

If symptoms persist, worsen, or if there is a family history of ichthyosis, consult a dermatologist or geneticist for evaluation and management.

Limitations

  • ⚠Cannot detect all possible genetic variants
  • ⚠May not identify novel or rare mutations
  • ⚠Requires genetic counseling for accurate interpretation

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Psychological impact of genetic results; counseling recommended

Interfering Factors

  • ●Sample degradation or contamination
  • ●Insufficient DNA quantity
  • ●Hemolyzed or improperly stored samples

Compare With Similar Tests

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ComparisonST14 Gene Ichthyosis, congenital, autosomal recessive, type 11 NGS Genetic Test

Frequently Asked Questions

What is ST14 Gene Ichthyosis?
It is a rare autosomal recessive genetic skin disorder caused by mutations in the ST14 gene, leading to congenital ichthyosis type 11 characterized by dry, scaly skin.
How is ST14 Gene Ichthyosis diagnosed?
Diagnosis involves clinical evaluation of symptoms and genetic testing using NGS to analyze the ST14 gene for mutations.
What are the common symptoms?
Symptoms include thickened, scaly skin at birth, redness, blisters, difficulty sweating, hair loss, and possible developmental delay.
What is the cost of the NGS Genetic Test in India?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
What sample types are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted samples.
Is genetic counseling required before testing?
Yes, a genetic counseling session is recommended to draw a pedigree chart and discuss test implications.
What does a positive test result mean?
A positive result confirms the presence of pathogenic ST14 gene mutations, diagnosing congenital ichthyosis type 11.
Can this test be used for prenatal diagnosis?
This test is primarily for postnatal diagnosis; prenatal testing may require specialized genetic counseling and different methods.
Are there any risks associated with the test?
Risks are minimal, such as bruising from blood draw, but genetic results may have psychological impacts; counseling is advised.
How accurate is the NGS Genetic Test?
NGS is highly accurate for detecting known mutations, but may not identify all variants; clinical correlation is essential.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference 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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✓ 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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