Skip to main content
DNA Labs India

DLL3 Gene Spondylocostal dysostosis, autosomal recessive type 1 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

DLL3 Gene Spondylocostal dysostosis, autosomal recessive type 1 NGS Genetic Test

Short Name: DLL3 SCD-AR1 NGS Test

Also known as: Spondylocostal dysostosis type 1, SCD-AR1

DLL3 Gene Spondylocostal dysostosis, autosomal recessive type 1 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 Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To identify mutations in the DLL3 gene for accurate diagnosis of Spondylocostal dysostosis, autosomal recessive type 1 (SCD-AR1), enabling appropriate clinical management and genetic counseling.

Test Code
2483
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 of the patient and a genetic counseling session to draw a pedigree chart of family members affected with SCD-AR1.

Method: Venipuncture or FTA card

Step 2

Laboratory Analysis

Standard blood draw procedure using venipuncture or collection on FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store samples as per guidelines.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:Sample collection via blood draw or FTA card.
3
After the Test:Results are available in 3-4 weeks; follow-up with a healthcare provider is advised.

About This Test

Who Should Get This Test

To identify mutations in the DLL3 gene for accurate diagnosis of Spondylocostal dysostosis, autosomal recessive type 1 (SCD-AR1), enabling appropriate clinical management and genetic counseling.

How to Prepare

  • Ensure proper labeling of samples with patient details
  • Avoid hemolysis by gentle handling of blood samples
  • Use sterile collection tubes or FTA cards as specified

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic testing for DLL3 mutations is crucial for accurate diagnosis and management of SCD-AR1. Consult a genetic counselor for family planning and early intervention."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results from the DLL3 Gene NGS Genetic Test indicate the presence or absence of mutations associated with SCD-AR1.
Positive result: Pathogenic mutation detected in the DLL3 gene, confirming diagnosis of SCD-AR1.
Negative result: No pathogenic variants detected; clinical correlation is recommended as symptoms may be due to other causes.
Variant of uncertain significance (VUS): Further testing or family studies may be needed for clarification.
⚠️ When to Consult a Doctor:

If symptoms of SCD-AR1 are present, such as spinal abnormalities or breathing difficulties, or if there is a family history of the disorder, consult a geneticist or orthopedic specialist for evaluation and management.

Limitations

  • ⚠May not detect all genetic variants, including large deletions or duplications
  • ⚠Results require clinical correlation and genetic counseling
  • ⚠Does not rule out other genetic disorders with similar symptoms

Risks & Considerations

  • ●Minimal risks from blood draw: bruising, infection, or discomfort at the puncture site

Interfering Factors

  • ●Sample contamination or degradation
  • ●Insufficient DNA quantity or quality
  • ●Hemolyzed blood samples

Frequently Asked Questions

What is the DLL3 Gene SCD-AR1 NGS Genetic Test?
It is a next-generation sequencing test to identify mutations in the DLL3 gene for diagnosing Spondylocostal dysostosis, autosomal recessive type 1.
Who should consider this test?
Individuals with symptoms like fused vertebrae, missing ribs, or short stature, and those with a family history of SCD-AR1.
How is the test performed?
A blood sample or DNA is collected and analyzed using NGS technology to sequence the DLL3 gene.
What is the cost of the test?
The test costs INR 20000.0, 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.
Is home sample collection available?
Yes, free home collection is offered for online bookings in numerous cities across India.
What are the symptoms of SCD-AR1?
Symptoms include abnormal spinal curvature, fused vertebrae, missing ribs, short stature, breathing difficulties, and heart defects.
How is SCD-AR1 inherited?
It is autosomal recessive, meaning both parents must carry one mutated copy of the DLL3 gene for a child to be affected.
What does a positive result mean?
A positive result confirms a diagnosis of SCD-AR1 due to a pathogenic mutation in the DLL3 gene.
What if the test is negative?
A negative result means no pathogenic variants were detected, but clinical evaluation is still recommended if symptoms persist.
Are there any risks associated with the test?
Risks are minimal, primarily related to blood draw, such as bruising or infection.
How can I prepare for the test?
No special preparation is needed, but genetic counseling is advised to understand the implications and family history.
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

WISP3 Gene Arthropathy, progressive pseudorheumatoid, of childhood NGS Genetic Test

₹20,000

FLNB Gene Atelosteogenesis type 3 NGS Genetic Test

₹20,000

FLNB Gene Atelosteogenesis type 1 NGS Genetic Test

₹20,000

EBP Gene Chondrodysplasia punctata, X-linked dominant NGS Genetic Test

₹20,000

COL11A1 Gene Marshall syndrome NGS Genetic Test

₹20,000

ACTN3 (Sports Gene) Genotyping Test

₹7,000
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.