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PIK3R1 Gene Agammaglobulinemia type 7, autosomal recessive NGS Genetic Test

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PIK3R1 Gene Agammaglobulinemia type 7, autosomal recessive NGS Genetic Test

Short Name: PIK3R1 Agammaglobulinemia Type 7 NGS Test

Also known as: PIK3R1-related agammaglobulinemia, Type 7 agammaglobulinemia, Autosomal recessive agammaglobulinemia type 7

PIK3R1 Gene Agammaglobulinemia type 7, autosomal recessive 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 diagnose Agammaglobulinemia Type 7 by detecting mutations in the PIK3R1 gene using Next Generation Sequencing (NGS), enabling early intervention and management of immunodeficiency.

Test Code
5570
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 family pedigree information. No special preparation such as fasting is required.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn by a trained phlebotomist using standard venipuncture techniques.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Keep the area clean to prevent infection.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling. No fasting required.
2
During the Test:Blood sample collection via venipuncture.
3
After the Test:Results available in 3-4 weeks. Genetic counseling session to discuss findings.

About This Test

Who Should Get This Test

To diagnose Agammaglobulinemia Type 7 by detecting mutations in the PIK3R1 gene using Next Generation Sequencing (NGS), enabling early intervention and management of immunodeficiency.

How to Prepare

  • Sample type: Blood or Extracted DNA or One drop Blood on FTA Card
  • Use sterile collection tubes
  • Label samples correctly with patient details

Doctor's Notes

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

"Genetic testing is crucial for early diagnosis and management of immunodeficiency disorders like Agammaglobulinemia Type 7, enabling timely intervention and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Store blood samples at 2-8°C for up to 48 hours
FTA cards can be stored at room temperature
Sample Rejection Criteria:
  • Hemolyzed or insufficient sample
  • Incorrect labeling
  • Contaminated samples

Understanding Your Results

Results indicate the presence or absence of mutations in the PIK3R1 gene. Positive findings confirm Agammaglobulinemia Type 7, while negative results may require further clinical evaluation.
Pathogenic mutations detected: Diagnosis of Agammaglobulinemia Type 7 confirmed
No mutations detected: Condition unlikely, but consider other genetic or immunological tests
Variants of uncertain significance: May require additional testing or family studies
⚠️ When to Consult a Doctor:

If symptoms of immunodeficiency such as frequent infections are present, or if there is a family history of Agammaglobulinemia, consult a healthcare provider for evaluation and possible genetic testing.

Limitations

  • ⚠May not detect all possible mutations in the PIK3R1 gene
  • ⚠Requires genetic counseling for accurate interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Bruising at the puncture site
  • ●Minor infection risk
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Improper sample storage

Frequently Asked Questions

What is Agammaglobulinemia Type 7?
Agammaglobulinemia Type 7 is a rare autosomal recessive genetic disorder caused by mutations in the PIK3R1 gene, leading to impaired B cell function and antibody production, resulting in increased susceptibility to infections.
What causes Agammaglobulinemia Type 7?
It is caused by mutations in the PIK3R1 gene, which is involved in B cell signaling. Inheritance is autosomal recessive, meaning two copies of the mutated gene are needed.
What are the symptoms of Agammaglobulinemia Type 7?
Symptoms include frequent infections (ear, sinus, pneumonia), chronic diarrhea, failure to thrive, recurrent skin infections, and enlarged lymph nodes, often appearing in infancy.
How is Agammaglobulinemia Type 7 diagnosed?
Diagnosis is through genetic testing, specifically Next Generation Sequencing (NGS) of the PIK3R1 gene to detect mutations.
What is the PIK3R1 gene?
The PIK3R1 gene provides instructions for making a protein involved in B cell signaling pathways, crucial for immune function.
What is Next Generation Sequencing (NGS)?
NGS is a advanced genetic testing technology that sequences multiple genes simultaneously, allowing for comprehensive and rapid analysis of genetic disorders.
What is the cost of the PIK3R1 Gene Agammaglobulinemia Type 7 NGS Test?
The cost at DNA Labs India is INR 20,000, which includes the genetic test and a genetic counseling session.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
How long does it take to get the test results?
Results are typically available in 3 to 4 weeks after sample collection.
What does the test include?
The test includes the NGS genetic analysis, sample collection, genetic counseling, and delivery of reports with raw data, FASTQ, and VCF files.
Who should consider this test?
Individuals with symptoms of immunodeficiency, family history of Agammaglobulinemia, or those suspected of having autosomal recessive inheritance patterns should consider this test.
What are the treatment options for Agammaglobulinemia Type 7?
Treatment typically involves immunoglobulin replacement therapy and antibiotics for infections, guided by a healthcare professional after diagnosis.
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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