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SLC27A4 Gene Ichthyosis prematurity syndrome NGS Genetic Test

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SLC27A4 Gene Ichthyosis prematurity syndrome NGS Genetic Test

Short Name: SLC27A4 IPS NGS Genetic Test

Also known as: SLC27A4 Ichthyosis, Ichthyosis Prematurity Syndrome Genetic Test

SLC27A4 Gene Ichthyosis prematurity syndrome 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 detect mutations in the SLC27A4 gene for diagnosis of Ichthyosis Prematurity Syndrome, aiding in early intervention and genetic counseling.

Test Code
4993
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 and genetic counseling recommended.

Method: Venipuncture or Saliva Collection

Step 2

Laboratory Analysis

Standard blood draw or saliva collection following lab protocols.

Step 3

Report Delivery

Sample is processed and sent to the laboratory for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and informed consent are recommended prior to testing.
2
During the Test:Sample collection and processing using NGS technology.
3
After the Test:Report generation, delivery, and consultation with a healthcare provider.

About This Test

Who Should Get This Test

To detect mutations in the SLC27A4 gene for diagnosis of Ichthyosis Prematurity Syndrome, aiding in early intervention and genetic counseling.

How to Prepare

  • Avoid eating or drinking before saliva collection if specified
  • Follow lab instructions for blood collection to ensure sample integrity

Doctor's Notes

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

"Genetic testing for SLC27A4 mutations is vital for early intervention and counseling in affected families."

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 Saliva Collection

Sample Stability

Blood: 24-48 hours at room temperature
DNA: Stable for longer periods under proper storage
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of mutations in the SLC27A4 gene associated with Ichthyosis Prematurity Syndrome.
Positive: Pathogenic variant detected, consistent with Ichthyosis Prematurity Syndrome
Negative: No pathogenic variants detected, reducing likelihood of the syndrome
Variant of uncertain significance: Further testing or family studies may be needed
⚠️ When to Consult a Doctor:

If symptoms of Ichthyosis Prematurity Syndrome are present or there is a family history of the disorder.

Limitations

  • ⚠May not detect all variants
  • ⚠Requires genetic counseling for interpretation

Risks & Considerations

  • ●Minimal risk from blood draw such as bruising
  • ●Psychological impact of test results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA

Compare With Similar Tests

TestSLC27A4 Gene Ichthyosis prematurity syndrome NGS Genetic TestOther Ichthyosis Gene Panel
ComparisonSLC27A4 Gene Ichthyosis prematurity syndrome NGS Genetic Test

Frequently Asked Questions

What is SLC27A4 Gene Ichthyosis Prematurity Syndrome?
It is a rare genetic disorder caused by mutations in the SLC27A4 gene, leading to symptoms like dry skin and respiratory distress.
What are the symptoms of this syndrome?
Common symptoms include dry, scaly skin, respiratory distress, developmental delays, low birth weight, enlarged liver, jaundice, and low muscle tone.
How is the syndrome diagnosed?
Diagnosis is through genetic testing, such as the NGS Genetic Test offered by DNA Labs India, which detects mutations in the SLC27A4 gene.
What is the cost of the NGS Genetic Test?
The cost at DNA Labs India is INR 20000, with free home sample collection available.
What sample types are accepted for the test?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted.
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, free home sample collection is offered for online bookings across India.
What does a positive test result mean?
A positive result indicates a pathogenic variant in the SLC27A4 gene, consistent with Ichthyosis Prematurity Syndrome.
What are the risks of the test?
Risks are minimal, such as bruising from blood draw, but psychological impact of results should be considered.
Can this test be used for prenatal diagnosis?
Consult a genetic counselor or healthcare provider for prenatal testing options, as this test may not be standard for prenatal use.
Is genetic counseling recommended?
Yes, genetic counseling is recommended before and after testing to understand results and implications.
How accurate is the NGS Genetic Test?
The test uses advanced NGS technology for high accuracy in detecting mutations, but interpretation should be done by a qualified professional.
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.

LIMS Integration

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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