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AK2 Gene Reticular dysgenesis NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

AK2 Gene Reticular dysgenesis NGS Genetic Test

Short Name: AK2 Gene RD NGS Test

Also known as: AK2 deficiency, Congenital aleukocytosis

AK2 Gene Reticular dysgenesis 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.

Next-Generation Sequencing (NGS)Neonates and Infants🏠 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

The purpose of the AK2 Gene Reticular Dysgenesis NGS Genetic Test is to identify mutations in the AK2 gene that cause reticular dysgenesis. This test enables early and accurate diagnosis, facilitating timely medical intervention such as immune reconstitution therapies or stem cell transplantation. It helps in genetic counseling, family planning, and understanding the risk of recurrence in families.

Test Code
2476
Price
₹20,000
Sample Type
Blood
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with AK2 gene-related conditions.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard blood draw procedure using venipuncture. The sample is collected in an appropriate container and labeled correctly.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Keep the area clean and dry.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are required before testing.
2
During the Test:The test involves Next-Generation Sequencing of the AK2 gene from a blood sample.
3
After the Test:Results are available in 3 to 4 weeks. Follow-up with a geneticist is advised.

About This Test

Who Should Get This Test

The purpose of the AK2 Gene Reticular Dysgenesis NGS Genetic Test is to identify mutations in the AK2 gene that cause reticular dysgenesis. This test enables early and accurate diagnosis, facilitating timely medical intervention such as immune reconstitution therapies or stem cell transplantation. It helps in genetic counseling, family planning, and understanding the risk of recurrence in families.

How to Prepare

  • Ensure patient identification and consent
  • Use sterile equipment for blood collection
  • Label the sample with patient details and test information
  • Transport the sample to the laboratory at ambient temperature

Doctor's Notes

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

"Early genetic testing for reticular dysgenesis is crucial for timely intervention and management to improve patient outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 48 hours at room temperature
For longer storage, refrigerate at 2-8°C
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrect labeling or missing patient information

Understanding Your Results

Results from the AK2 Gene Reticular Dysgenesis NGS Genetic Test indicate the presence or absence of pathogenic variants in the AK2 gene. A positive result confirms the diagnosis of reticular dysgenesis, while a negative result may require further clinical evaluation.
Positive Result: Pathogenic variant detected, confirming reticular dysgenesis. Consult a geneticist for management.
Negative Result: No pathogenic variants detected. Consider other genetic or non-genetic causes.
Variant of Uncertain Significance: Further testing or family studies may be needed.
⚠️ When to Consult a Doctor:

Consult a healthcare provider immediately if the test is positive or if symptoms persist despite negative results. Genetic counseling is recommended for all families.

Limitations

  • ⚠May not detect all types of genetic variants, such as large deletions or duplications
  • ⚠Results require interpretation by a qualified geneticist
  • ⚠Does not rule out other genetic causes of immunodeficiency

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Very low risk of infection
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Sample contamination during collection or processing
  • ●Degraded DNA due to improper storage or handling
  • ●Presence of inhibitors in the blood sample

Frequently Asked Questions

What is reticular dysgenesis?
Reticular dysgenesis is a rare genetic disorder caused by mutations in the AK2 gene, leading to severe immune deficiency due to a lack of lymphocytes.
What are the symptoms of reticular dysgenesis?
Symptoms include recurrent severe infections, fever, diarrhea, failure to thrive, and hearing loss, typically appearing in newborns or infants.
How is reticular dysgenesis diagnosed?
Diagnosis involves clinical evaluation, blood tests to measure white blood cells, and genetic testing such as NGS to confirm AK2 gene mutations.
What is the AK2 Gene Reticular Dysgenesis NGS Genetic Test?
It is a Next-Generation Sequencing test that analyzes the AK2 gene for mutations to diagnose reticular dysgenesis accurately.
What is the cost of this test in India?
The cost is INR 20000 at DNA Labs India, with free home sample collection available across many cities.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What should I do if the test is positive?
Consult a geneticist or immunologist immediately for management options, which may include hematopoietic stem cell transplantation.
Can this test be used for prenatal diagnosis?
Yes, with genetic counseling, it can be used for prenatal testing if there is a known family history of reticular dysgenesis.
Is fasting required for this test?
No, fasting is not required for the AK2 Gene Reticular Dysgenesis NGS Genetic Test.
What is the sample type for this test?
The sample type is blood, collected via venipuncture.
Are there any risks associated with this test?
Risks are minimal, such as minor bruising from blood draw. Genetic results may have emotional implications, so counseling is recommended.
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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