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DHCR24 Gene Desmosterolosis NGS Genetic Test

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DHCR24 Gene Desmosterolosis NGS Genetic Test

Short Name: DHCR24 Desmosterolosis Test

Also known as: DHCR24 Deficiency, Desmosterol Storage Disease

DHCR24 Gene Desmosterolosis NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) 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 identify mutations in the DHCR24 gene for definitive diagnosis of Desmosterolosis, guiding clinical management and genetic counseling.

Test Code
2722
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Provide clinical history and undergo genetic counseling to draw a pedigree chart.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site; sample sent to lab for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review.
2
During the Test:DNA extraction and NGS analysis of the DHCR24 gene.
3
After the Test:Result interpretation and counseling session.

About This Test

Who Should Get This Test

To identify mutations in the DHCR24 gene for definitive diagnosis of Desmosterolosis, guiding clinical management and genetic counseling.

How to Prepare

  • Ensure proper identification
  • Use sterile equipment
  • Label samples correctly

Doctor's Notes

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

"Genetic testing with NGS technology is essential for accurate diagnosis of rare disorders like Desmosterolosis, enabling tailored management and genetic counseling for families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card collection

Sample Stability

Blood: 2-8°C for 72 hours
FTA card: Room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the DHCR24 gene.
📊

Positive

Pathogenic variant detected, confirming Desmosterolosis diagnosis.

📊

Negative

No pathogenic variants detected; clinical correlation recommended.

📊

Variant of Uncertain Significance

Further testing or family studies may be needed.

⚠️ When to Consult a Doctor:

Consult a geneticist or specialist if symptoms persist or for family planning after positive results.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Not for prenatal diagnosis without additional validation

Risks & Considerations

  • ●Minimal risk from blood draw
  • ●Potential psychological impact of results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample type

Compare With Similar Tests

TestDHCR24 Gene Desmosterolosis NGS Genetic TestSmith-Lemli-Opitz Syndrome Genetic TestWhole Exome SequencingMetabolic Disorder Gene Panel
ComparisonDHCR24 Gene Desmosterolosis NGS Genetic Test

Frequently Asked Questions

What is Desmosterolosis?
Desmosterolosis is a rare genetic disorder caused by mutations in the DHCR24 gene, leading to cholesterol metabolism issues and accumulation of desmosterol.
What causes Desmosterolosis?
It is caused by mutations in the DHCR24 gene, which is involved in cholesterol synthesis, inherited in an autosomal recessive pattern.
What are the symptoms of Desmosterolosis?
Symptoms include developmental delays, intellectual disability, seizures, dysmorphic features, brain and eye abnormalities, low muscle tone, and growth delays.
How is Desmosterolosis diagnosed?
Diagnosis is confirmed through genetic testing, such as the DHCR24 Gene Desmosterolosis NGS Genetic Test, to identify mutations in the DHCR24 gene.
What does the DHCR24 Gene Desmosterolosis NGS Genetic Test involve?
It involves analyzing a DNA sample using next-generation sequencing to detect mutations in the DHCR24 gene.
What is the cost of the test?
The test costs INR 20,000, which includes sample analysis, result interpretation, and genetic counseling.
Is home sample collection available?
Yes, free home sample collection is available across India for online bookings.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
Is the test covered by insurance?
Coverage depends on the insurance provider; it is not universally covered. Check with your insurer.
What if the test result is positive?
A positive result confirms Desmosterolosis; consult a geneticist for management and family counseling.
Can this test be used for prenatal diagnosis?
It is primarily for postnatal diagnosis; prenatal testing may require additional validation and counseling.
How should I prepare for the test?
No special preparation is needed, but provide clinical history and attend a genetic counseling session before sample collection.
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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