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AKT2 Gene Hypoinsulinemic hypoglycemia with hemihypertrophy NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

AKT2 Gene Hypoinsulinemic hypoglycemia with hemihypertrophy NGS Genetic Test

Short Name: AKT2 Gene Hypoinsulinemic Hypoglycemia Test

Also known as: AKT2 mutation test, Hypoinsulinemic hypoglycemia genetic test

AKT2 Gene Hypoinsulinemic hypoglycemia with hemihypertrophy NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to detect mutations in the AKT2 gene that cause hypoinsulinemic hypoglycemia with hemihypertrophy. It helps confirm diagnosis, understand disease etiology, and inform management strategies including monitoring and treatment.

Test Code
2110
Price
₹20,000
Sample Type
Blood
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Patients should provide detailed clinical history and undergo genetic counseling. No specific preparation is required, but avoiding recent blood transfusions is recommended.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample is collected via venipuncture from a vein in the arm. The procedure takes a few minutes.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Undergo genetic counseling and provide informed consent.
2
During the Test:Blood sample collection as per standard procedures.
3
After the Test:Await results and follow up with your healthcare provider for interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the AKT2 gene that cause hypoinsulinemic hypoglycemia with hemihypertrophy. It helps confirm diagnosis, understand disease etiology, and inform management strategies including monitoring and treatment.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile collection tubes
  • Label samples correctly
  • Transport at ambient temperature

Doctor's Notes

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

"Early genetic diagnosis of AKT2-related disorders allows for tailored management and genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Sample Volume5 ml
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Stable at room temperature for up to 24 hours
Refrigerate if delay beyond 24 hours
Sample Rejection Criteria:
  • Mislabeled samples
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly stored samples

Understanding Your Results

Results indicate the presence or absence of mutations in the AKT2 gene. A positive result confirms the genetic cause of hypoinsulinemic hypoglycemia with hemihypertrophy.
📊

Positive for pathogenic variant

Confirms diagnosis of AKT2-related hypoinsulinemic hypoglycemia with hemihypertrophy. Genetic counseling and management plan recommended.

📊

Negative

No pathogenic variant detected. Other causes of hypoglycemia should be considered.

📊

Variant of uncertain significance

Further testing and family studies may be needed. Consult a geneticist.

⚠️ When to Consult a Doctor:

If you experience symptoms of hypoglycemia, such as dizziness, weakness, confusion, or seizures, or if you have a family history of genetic disorders, consult a healthcare provider immediately.

Limitations

  • May not detect all types of mutations
  • Variants of uncertain significance may be identified
  • Does not assess other genetic causes of hypoglycemia
  • Requires genetic counseling for interpretation

Risks & Considerations

  • Minor bruising or soreness at the blood draw site
  • In rare cases, infection or hematoma

Interfering Factors

  • Hemolyzed or clotted blood samples
  • Contaminated samples
  • Insufficient sample volume
  • Recent blood transfusions

Frequently Asked Questions

What is AKT2 Gene Hypoinsulinemic Hypoglycemia with Hemihypertrophy?
It is a rare genetic disorder caused by mutations in the AKT2 gene, leading to low blood sugar levels and asymmetric body overgrowth.
What causes this condition?
Mutations in the AKT2 gene disrupt insulin signaling, resulting in hypoinsulinemic hypoglycemia and hemihypertrophy.
What are the common symptoms?
Symptoms include hypoglycemia (dizziness, weakness, confusion, seizures) and hemihypertrophy (overgrowth of one side of the body).
How is the condition diagnosed?
Diagnosis involves clinical evaluation and genetic testing, such as NGS Genetic Testing, to confirm AKT2 gene mutations.
What is NGS Genetic Testing?
Next-Generation Sequencing (NGS) is an advanced genetic test that sequences multiple genes simultaneously to identify mutations.
Why is genetic testing important for this condition?
Genetic testing confirms the diagnosis, guides treatment, and helps in genetic counseling for families.
What is the cost of the test at DNA Labs India?
The test costs INR 20,000, including home sample collection and reporting.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
Are there any risks associated with the test?
The test involves a standard blood draw with minimal risks like bruising or soreness at the collection site.
How should I prepare for the test?
No special preparation is required, but providing clinical history and undergoing genetic counseling is recommended.
What do the test results mean?
A positive result indicates a pathogenic AKT2 mutation confirming the disorder. A negative result suggests other causes. Consult a geneticist for interpretation.
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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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.

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