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DCLRE1C Gene Severe combined immunodeficiency, Athabascan type NGS Genetic Test

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DCLRE1C Gene Severe combined immunodeficiency, Athabascan type NGS Genetic Test

Short Name: DCLRE1C SCID Athabascan NGS Test

Also known as: Artemis deficiency, SCID, Athabascan type

DCLRE1C Gene Severe combined immunodeficiency, Athabascan type 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 TestPediatric🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to detect mutations in the DCLRE1C gene that cause Athabascan type severe combined immunodeficiency (SCID). It aids in confirming diagnosis, guiding treatment decisions, and informing genetic counseling for affected families.

Test Code
2465
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

No special preparation required. Provide clinical history and family pedigree.

Method: Venipuncture or finger prick for FTA card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or finger prick for FTA card.

Step 3

Report Delivery

Apply pressure to puncture site. Store sample as instructed.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor. Provide detailed medical and family history.
2
During the Test:Sample collection is quick and minimally invasive.
3
After the Test:Wait for results. Genetic counseling recommended for interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the DCLRE1C gene that cause Athabascan type severe combined immunodeficiency (SCID). It aids in confirming diagnosis, guiding treatment decisions, and informing genetic counseling for affected families.

How to Prepare

  • Use sterile equipment
  • Label sample correctly
  • Transport at room temperature

Doctor's Notes

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

"Genetic testing for SCID is vital for early intervention. If your child has recurrent infections, consult a pediatrician or geneticist."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 ml
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick for FTA card

Sample Stability

Blood sample stable for 48 hours at room temperature
FTA card stable for longer periods
Sample Rejection Criteria:
  • Sample hemolyzed
  • Insufficient volume
  • Incorrect container
  • Unlabeled sample

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the DCLRE1C gene.
Positive result: Mutation detected, consistent with Athabascan type SCID
Negative result: No mutation detected, but clinical correlation needed
Variant of uncertain significance: Requires further testing and counseling
⚠️ When to Consult a Doctor:

If your child shows symptoms of SCID or if you have a family history of immunodeficiency, consult a pediatrician or geneticist immediately.

Limitations

  • May not detect all types of mutations (e.g., large deletions)
  • Requires correlation with clinical findings
  • Genetic counseling essential for interpretation

Risks & Considerations

  • Minimal risk from blood draw: bruising, infection
  • Psychological impact of results

Interfering Factors

  • Contaminated or degraded DNA sample
  • Hemolyzed blood sample
  • Incorrect sample storage

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ComparisonDCLRE1C Gene Severe combined immunodeficiency, Athabascan type NGS Genetic Test

Frequently Asked Questions

What is DCLRE1C gene SCID?
DCLRE1C gene SCID is a type of severe combined immunodeficiency caused by mutations in the DCLRE1C gene, also known as Artemis deficiency.
What are the symptoms of Athabascan type SCID?
Symptoms include recurrent infections, chronic diarrhea, failure to thrive, low white blood cell count, low platelet count, and low red blood cell count in infants.
How is the test performed?
The test uses next-generation sequencing (NGS) to analyze the DCLRE1C gene from a blood or saliva sample.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available.
Is home collection available?
Yes, free home sample collection is offered across India for online bookings.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What does a positive result mean?
A positive result indicates the presence of a pathogenic mutation in the DCLRE1C gene, confirming Athabascan type SCID diagnosis.
Can SCID be treated?
Yes, treatments like stem cell transplantation or gene therapy can be effective, especially with early diagnosis.
Is genetic counseling necessary?
Yes, genetic counseling is recommended before and after testing to understand implications and guide family planning.
Who should get tested?
Infants with symptoms of SCID, individuals with a family history of immunodeficiency, or those recommended by a healthcare provider.
What is the accuracy of NGS testing?
NGS testing is highly accurate for detecting mutations in the DCLRE1C gene, but correlation with clinical findings is essential.
Are there any risks to the test?
Risks are minimal, primarily related to blood draw, such as bruising or infection.
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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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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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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