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CASP8 Gene Autoimmune lymphoproliferative syndrome type 2B NGS Genetic Test

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CASP8 Gene Autoimmune lymphoproliferative syndrome type 2B NGS Genetic Test

Short Name: CASP8 ALPS Type 2B NGS Test

Also known as: ALPS Type 2B Genetic Test, CASP8 Mutation Analysis, Autoimmune Lymphoproliferative Syndrome Type 2B NGS Test

CASP8 Gene Autoimmune lymphoproliferative syndrome type 2B 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 TestUnisexAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

To detect mutations in the CASP8 gene for diagnosis of Autoimmune Lymphoproliferative Syndrome Type 2B (ALPS Type 2B).

Test Code
2373
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 specific preparation required. Genetic counseling recommended.

Method: Venipuncture or Blood Drop on FTA Card

Step 2

Laboratory Analysis

Sample collected by trained phlebotomist at home or lab.

Step 3

Report Delivery

Sample sent to laboratory for analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling to discuss implications and family history.
2
During the Test:Sample collection process is non-invasive.
3
After the Test:Wait for 3-4 weeks for report. Genetic counseling recommended for result interpretation.

About This Test

Who Should Get This Test

To detect mutations in the CASP8 gene for diagnosis of Autoimmune Lymphoproliferative Syndrome Type 2B (ALPS Type 2B).

How to Prepare

  • Fast for not required
  • Provide clinical history and family pedigree
  • Ensure proper labeling of sample

Doctor's Notes

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

"NGS-based testing for CASP8 gene provides precise diagnosis for ALPS Type 2B, enabling targeted management and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or clotted sample
  • Incorrect patient information

Understanding Your Results

Results indicate presence or absence of pathogenic variants in the CASP8 gene.
Negative result: No mutations detected, but clinical correlation needed
Positive result: Pathogenic variant found, confirming diagnosis
Variant of uncertain significance: Requires genetic counseling and further testing
⚠️ When to Consult a Doctor:

If symptoms suggestive of ALPS Type 2B are present, or for genetic counseling after positive result.

Limitations

  • May not detect all types of mutations
  • Variants of uncertain significance may require further analysis
  • Does not rule out other genetic disorders

Risks & Considerations

  • Minimal physical risk
  • Potential psychological impact of diagnosis
  • Risk of incidental findings

Interfering Factors

  • Poor sample quality
  • Contamination during collection
  • Incorrect sample storage

Compare With Similar Tests

TestCASP8 Gene Autoimmune lymphoproliferative syndrome type 2B NGS Genetic TestFAS Gene Mutation Test for ALPS Type 1
ComparisonCASP8 Gene Autoimmune lymphoproliferative syndrome type 2B NGS Genetic Test

Frequently Asked Questions

What is ALPS Type 2B?
Autoimmune Lymphoproliferative Syndrome Type 2B is a rare genetic disorder caused by mutations in the CASP8 gene, leading to immune system dysregulation.
What is the CASP8 gene?
The CASP8 gene encodes caspase-8, a protein involved in apoptosis of immune cells. Mutations disrupt cell death, causing ALPS Type 2B.
What are the symptoms of ALPS Type 2B?
Symptoms include recurrent infections, enlarged lymph nodes, anemia, thrombocytopenia, neutropenia, and autoimmune disorders.
How is ALPS Type 2B diagnosed?
Diagnosis is confirmed through genetic testing, specifically NGS of the CASP8 gene.
What is the cost of the CASP8 NGS Genetic Test?
The test costs INR 20000 in India, with home sample collection available.
Is fasting required for this test?
No, fasting is not required.
How is the sample collected?
Sample is collected via blood draw or blood drop on FTA card, at home or in a lab.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
Can this test be done for children?
Yes, the test is suitable for all ages.
Is home sample collection available?
Yes, free home collection is offered in many cities across India.
What if the test shows a variant of uncertain significance?
Genetic counseling is recommended for further evaluation and possible family testing.
Who should undergo this test?
Individuals with symptoms of ALPS Type 2B or a family history of the condition.
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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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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