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AGTR2 Gene Mental retardation, X-linked type 88, AGTR2 related NGS Genetic Test

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AGTR2 Gene Mental retardation, X-linked type 88, AGTR2 related NGS Genetic Test

Short Name: AGTR2 Gene NGS Test

Also known as: AGTR2-related intellectual disability NGS test, X-linked type 88 mental retardation gene test, AGTR2 gene sequencing test

AGTR2 Gene Mental retardation, X-linked type 88, AGTR2 related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in Reports will be delivered within 3 to 4 weeks after the sample reaches the laboratory. An SMS/email alert will be sent once the report is available.. Free home collection in 300+ cities across India.

NGS Genetic TestPediatric and Adult🏠 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 this NGS genetic test is to look for pathogenic or likely pathogenic variants in the AGTR2 gene. Identifying a disease-causing variant can support a clinical diagnosis of AGTR2-related X-linked type 88 mental retardation. It also helps in genetic counseling and recurrence risk estimation for the patient and family members.

Test Code
4286
Price
₹20,000
Sample Type
Blood
Result Time
Reports will be delivered within 3 to 4 weeks after the sample reaches the laboratory. An SMS/email alert will be sent once the report is available.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A pre-test genetic counseling session to draw a three-generation family pedigree is recommended before the test. Please carry the test requisition form and patient identification.

Method: Peripheral venous blood draw

Step 2

Laboratory Analysis

A trained phlebotomist will collect venous blood from the arm into an EDTA tube. The procedure takes only a few minutes.

Step 3

Report Delivery

No special precautions are needed. You can resume normal activities immediately after sample collection.

Timeline: Reports will be delivered within 3 to 4 weeks after the sample reaches the laboratory. An SMS/email alert will be sent once the report is available.

Patient Instructions

1
Before the Test:No fasting is needed. A genetic counseling session may be scheduled to draw a family pedigree and explain the benefits, risks, and expected outcomes of testing.
2
During the Test:A blood sample is collected from a vein in the arm into an EDTA tube. The sample is sent to the genetics laboratory for DNA extraction and next-generation sequencing.
3
After the Test:You can resume normal activities immediately. Reports are usually available in 3 to 4 weeks. A follow-up consultation with the referring doctor or clinical geneticist is advised.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to look for pathogenic or likely pathogenic variants in the AGTR2 gene. Identifying a disease-causing variant can support a clinical diagnosis of AGTR2-related X-linked type 88 mental retardation. It also helps in genetic counseling and recurrence risk estimation for the patient and family members.

How to Prepare

  • Verify patient identity and requisition form.
  • Use an EDTA vacutainer and fill to the indicated volume.
  • Mix the tube gently to prevent clotting.
  • Label the tube with patient name, unique ID, date, and time.
  • Transport the sample at room temperature if it reaches the laboratory within 24 hours; otherwise follow laboratory temperature guidelines.

Doctor's Notes

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

"This gene-specific NGS test is indicated when prior clinical assessment and family history suggest X-linked intellectual disability. Results should be discussed in a genetic counseling session before making reproductive or treatment decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Sample Volume2-3 mL whole blood in EDTA tube
ContainerEDTA vacutainer
Collection MethodPeripheral venous blood draw

Sample Stability

Whole blood in EDTA: stable for up to 72 hours at 2-8°C if processed within the laboratory's validation window.
Extracted DNA: stable for several weeks at -20°C.
Do not freeze whole blood; it should be refrigerated if processing is delayed.
Sample Rejection Criteria:
  • Clotted or haemolysed blood sample
  • Sample received in an incorrect anticoagulant tube
  • Mismatched patient labeling on the tube and requisition form
  • Sample stored or transported outside the recommended temperature range

Understanding Your Results

This is a laboratory test and not a complete clinical diagnosis. Results must be interpreted by a qualified clinical geneticist in the context of clinical phenotype, developmental assessment, family history, and other laboratory findings.
📊

Pathogenic or likely pathogenic variant detected

Supports the diagnosis of AGTR2-related X-linked type 88 mental retardation in a compatible clinical context.

📊

Variant of uncertain significance (VUS) detected

The clinical impact of the variant is not yet known and should not be used as a standalone diagnostic result.

📊

No pathogenic or likely pathogenic variant detected

No clinically significant AGTR2 variant was found in the tested regions.

📊

Benign or likely benign variant detected

The variant is not considered to be disease-causing.

⚠️ When to Consult a Doctor:

Consult a pediatric neurologist, neurologist, or clinical geneticist if the patient has unexplained developmental delay, intellectual disability, seizures, behavioral abnormalities, or a family history of X-linked intellectual disability. After the test, ask for a genetic counseling session to understand the result and its implications for the whole family.

Limitations

  • ⚠This test analyzes only the AGTR2 gene, not other genes associated with intellectual disability.
  • ⚠It may not reliably detect large deletions, duplications, repeat expansions, deep intronic variants, regulatory variants, or structural rearrangements unless specifically validated.
  • ⚠A negative result does not exclude a genetic cause from another gene or a non-genetic cause.
  • ⚠Variant interpretation may change as new scientific evidence becomes available.

Risks & Considerations

  • ●Minimal pain or discomfort at the venipuncture site
  • ●Minor bruising or swelling
  • ●Rarely, hematoma or local infection

Interfering Factors

  • ●Poor quality or degraded DNA
  • ●Insufficient DNA quantity
  • ●Contamination during sample collection or processing
  • ●Sample collection in an incorrect anticoagulant tube
  • ●Rare sequencing artifacts that may affect variant interpretation

Compare With Similar Tests

TestAGTR2 Gene Mental retardation, X-linked type 88, AGTR2 related NGS Genetic TestTargeted AGTR2 NGS TestX-Linked Intellectual Disability NGS PanelChromosomal Microarray AnalysisWhole Exome Sequencing
ComparisonAGTR2 Gene Mental retardation, X-linked type 88, AGTR2 related NGS Genetic Test

Frequently Asked Questions

What is the AGTR2 gene NGS genetic test?
This NGS test looks for mutations in the AGTR2 gene. It is used to support the diagnosis of X-linked type 88 mental retardation / intellectual disability in individuals with suggestive symptoms, especially males.
What is X-linked type 88 mental retardation?
It is an inherited intellectual disability condition associated with alterations in the AGTR2 gene. The severity and symptoms vary; common features may include speech delay, motor delay, cognitive impairment, behavioral issues, autistic features, hyperactivity, and seizures. A clinical geneticist should confirm the diagnosis.
Who should take this test?
It is usually recommended for males with unexplained intellectual disability, speech or motor delay, behavioral abnormalities, or a family history matching X-linked inheritance. At-risk female relatives can also undergo targeted carrier testing if a familial AGTR2 variant has been identified.
What sample is required for this test?
A peripheral whole blood sample is required. The laboratory provides the appropriate EDTA blood collection tube. Free home sample collection is available for online bookings in many Indian cities.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How many days will the report take?
Reports are normally delivered within 3 to 4 weeks after the sample reaches the laboratory.
What is the cost of this test in India?
At DNA Labs India, the AGTR2 gene NGS genetic test costs INR 20,000. Prices elsewhere in India generally range from INR 15,000 to INR 25,000 depending on the laboratory, panel size, and location.
Can a woman be a carrier of AGTR2-related X-linked intellectual disability?
Yes. Since the condition is X-linked, female relatives may be carriers of a pathogenic AGTR2 variant. Most carriers do not show full symptoms, but mild features can occur in some females due to X-inactivation; genetic counseling is recommended.
Can this test identify all causes of intellectual disability?
No. This test only analyzes the AGTR2 gene. Intellectual disability has many genetic and non-genetic causes. If this test is negative, your doctor may recommend a broad X-linked intellectual disability panel, chromosomal microarray, Fragile X testing, or whole exome sequencing.
What does a negative result mean?
A negative result indicates that no pathogenic or likely pathogenic variant was found in the tested AGTR2 gene regions. It does not rule out intellectual disability caused by other genes or non-genetic factors.
What is a variant of uncertain significance?
A variant of uncertain significance is a DNA change whose impact on health is not yet clear. It is not used as a diagnostic result. Additional family studies and further testing may be needed to determine its significance.
Is genetic counseling included?
A genetic counseling session is recommended before the test to take a three-generation family pedigree and after the result to explain the implications for the patient and family. Please confirm with the laboratory whether this is included in the package or scheduled separately.
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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