Skip to main content
DNA Labs India

DHCR7 Gene Smith-Lemli-Opitz syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

DHCR7 Gene Smith-Lemli-Opitz syndrome NGS Genetic Test

Short Name: DHCR7 SLOS NGS Test

Also known as: SLOS Genetic Test, DHCR7 Mutation Analysis, Smith-Lemli-Opitz Syndrome NGS Panel

DHCR7 Gene Smith-Lemli-Opitz syndrome 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 Reports are available within 3-4 weeks after sample receipt.. 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

The purpose of this test is to confirm or rule out Smith-Lemli-Opitz Syndrome by detecting mutations in the DHCR7 gene. It aids in clinical diagnosis, carrier detection, and family planning decisions.

Test Code
5931
CPT Code
81407
ICD Code
Q87.1
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are available within 3-4 weeks after sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting required. A genetic counseling session is recommended to discuss the test and draw a pedigree chart.

Method: Venipuncture or Finger-prick

Step 2

Laboratory Analysis

Blood sample is collected by venipuncture or finger-prick onto FTA card. Ensure proper labeling.

Step 3

Report Delivery

No special precautions. Sample should be transported to the lab at ambient temperature.

Timeline: Reports are available within 3-4 weeks after sample receipt.

Patient Instructions

1
Before the Test:No special preparation. Genetic counseling is recommended.
2
During the Test:Sample collection takes 5-10 minutes.
3
After the Test:You can resume normal activities immediately.

About This Test

Who Should Get This Test

The purpose of this test is to confirm or rule out Smith-Lemli-Opitz Syndrome by detecting mutations in the DHCR7 gene. It aids in clinical diagnosis, carrier detection, and family planning decisions.

How to Prepare

  • Use EDTA tube for blood collection
  • For FTA card, apply one drop of blood and let it dry
  • Label sample with patient ID and date
  • Transport at room temperature

Doctor's Notes

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

"Early genetic confirmation of SLOS is crucial for timely intervention and family counseling. This NGS test provides definitive results to guide management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml blood or 1 drop on FTA card
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or Finger-prick

Sample Stability

Blood in EDTA: 24 hours at room temperature, 7 days at 2-8°C
Extracted DNA: stable for months at -20°C
FTA card: stable for years at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood
  • Insufficient sample volume
  • Improperly labeled sample
  • Sample received after prolonged transit without proper storage

Understanding Your Results

The test report will indicate whether a pathogenic variant in the DHCR7 gene was identified. Results are interpreted by a clinical geneticist.
📊

Pathogenic variant detected

Confirms diagnosis of SLOS. Genetic counseling recommended for family.

📊

No pathogenic variant detected

SLOS unlikely, but other causes should be considered.

📊

Variant of uncertain significance

Further testing or family studies may be needed.

⚠️ When to Consult a Doctor:

Consult a geneticist or pediatrician if the test result is positive or if you have concerns about SLOS symptoms.

Limitations

  • ⚠NGS may not detect large deletions/duplications (requires additional testing)
  • ⚠Variants of uncertain significance may be reported
  • ⚠Test does not assess biochemical cholesterol levels directly
  • ⚠Prenatal testing requires prior confirmation of parental mutations

Risks & Considerations

  • ●Minimal risk of bruising at blood draw site
  • ●Psychological impact of genetic results
  • ●Potential for incidental findings

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Recent blood transfusion (within 2 weeks)
  • ●Bone marrow transplantation (may affect results)
  • ●Incorrect sample labeling

Compare With Similar Tests

TestDHCR7 Gene Smith-Lemli-Opitz syndrome NGS Genetic Test
ComparisonDHCR7 Gene Smith-Lemli-Opitz syndrome NGS Genetic Test

Frequently Asked Questions

What is the DHCR7 gene test?
It is a genetic test that looks for mutations in the DHCR7 gene, which causes Smith-Lemli-Opitz Syndrome.
How is the test performed?
A blood sample is collected, and DNA is extracted. Next-generation sequencing is used to read the DHCR7 gene.
Do I need to fast for this test?
No, fasting is not required.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What is the cost of the test?
The test costs Rs 20000, which includes free home sample collection.
Can this test be done during pregnancy?
Yes, prenatal testing is possible if the parents' mutations are known. Consult your doctor.
What does a positive result mean?
A positive result confirms the diagnosis of SLOS. Genetic counseling is recommended.
What if no mutation is found?
If no mutation is found, SLOS is unlikely, but other conditions may be considered.
Is this test covered by insurance?
Insurance coverage varies. Please check with your provider.
Can I take this test for carrier screening?
Yes, carrier testing is available for individuals with a family history.
What sample types are accepted?
We accept blood, extracted DNA, or one drop of blood on an FTA card.
Is home sample collection available?
Yes, we offer free home sample collection in many cities across India.
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.

Related Tests

KIAA0586 Gene Joubert syndrome type 23 NGS Genetic Test

₹20,000

CAT Gene Acatalasemia NGS Genetic Test

₹20,000

BLM Gene Bloom syndrome NGS Genetic Test

₹20,000

FANCC Gene Fanconi anemia type C NGS Genetic Test

₹20,000

TPI1 Gene Triosephosphate isomerase deficiency NGS Genetic Test

₹20,000

PTPN23 Gene Ciliogenesis related disorder NGS Genetic Test

₹20,000
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.