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DNA Labs India

AR Gene Hypospadias type 1, X-linked NGS Genetic Test

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AR Gene Hypospadias type 1, X-linked NGS Genetic Test

Short Name: AR Gene Hypospadias Type 1 Test

Also known as: Hypospadias Type 1 Genetic Test, AR Gene Mutation Test, X-linked Hypospadias NGS Test

AR Gene Hypospadias type 1, X-linked NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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.

GynecologyMalePediatric🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of the AR Gene Hypospadias Type 1 NGS Genetic Test is to identify mutations in the AR gene that cause hypospadias, enabling accurate diagnosis, personalized treatment planning, and genetic counseling for affected families.

Test Code
5536
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
NGS Technology
Step 1

Sample Collection

No specific preparation is required. Ensure the patient is hydrated and comfortable. Provide clinical history and family pedigree information for genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture, or a saliva sample may be taken. For FTA card, one drop of blood is applied. The process is quick and minimally invasive.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Store the sample as instructed and transport to the laboratory promptly.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide detailed clinical history and family pedigree. No fasting required. Ensure genetic counseling session is scheduled.
2
During the Test:Sample collection via blood draw or saliva. The test is performed in a laboratory using NGS technology.
3
After the Test:Wait for 3-4 weeks for results. Discuss findings with a genetic counselor or physician for interpretation and next steps.

About This Test

Who Should Get This Test

The purpose of the AR Gene Hypospadias Type 1 NGS Genetic Test is to identify mutations in the AR gene that cause hypospadias, enabling accurate diagnosis, personalized treatment planning, and genetic counseling for affected families.

How to Prepare

  • Use sterile equipment for sample collection
  • Label the sample correctly with patient details
  • Avoid hemolysis in blood samples
  • Follow FTA card instructions if using that method

Doctor's Notes

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

"Early genetic testing for AR gene mutations can guide personalized treatment and genetic counseling for hypospadias, improving outcomes in male infants."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-5 mL for blood
ContainerEDTA tube for blood
Collection MethodVenipuncture

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Incorrectly labeled or contaminated samples

Understanding Your Results

Results from the AR Gene Hypospadias Type 1 NGS Genetic Test indicate the presence or absence of pathogenic mutations in the AR gene. Positive results confirm a genetic basis for hypospadias, while negative results may suggest other causes or the need for further testing.
📊

Pathogenic variant detected

Confirms AR gene mutation as the cause of hypospadias. Genetic counseling and targeted treatment recommended.

📊

No pathogenic variant detected

AR gene mutation not identified. Consider other genetic or environmental factors. Clinical correlation advised.

📊

Variant of uncertain significance (VUS)

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

⚠️ When to Consult a Doctor:

Consult a doctor immediately if your infant shows symptoms of hypospadias, such as abnormal urethral opening or urinary issues. After genetic testing, consult a genetic counselor or specialist to discuss results and treatment options.

Limitations

  • May not detect all possible genetic mutations or variants of uncertain significance
  • Results require interpretation by a genetic counselor or specialist
  • Does not replace clinical evaluation and other diagnostic tests

Risks & Considerations

  • Minimal risks from blood draw, such as bruising or infection
  • No significant risks from saliva collection

Interfering Factors

  • Sample contamination during collection or transport
  • Degraded DNA due to improper storage
  • Presence of inhibitors in the sample

Compare With Similar Tests

TestAR Gene Hypospadias type 1, X-linked NGS Genetic TestUltrasound of the penisHormone level blood testsUrine flow studiesOther genetic panels
ComparisonAR Gene Hypospadias type 1, X-linked NGS Genetic TestImaging test to assess anatomy, but does not identify genetic causes.Checks hormonal imbalances, but not specific to AR gene mutations.Evaluates urinary function, complementary to genetic testing.May include multiple genes, but AR gene test is targeted for hypospadias Type 1.

Frequently Asked Questions

What is the AR Gene Hypospadias Type 1 NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to identify mutations in the AR gene responsible for hypospadias Type 1, a congenital condition in males.
Who should take this test?
Male infants or children with symptoms of hypospadias, individuals with a family history of the condition, or those undergoing prenatal screening.
How is the test performed?
A blood or saliva sample is collected and analyzed in a laboratory using NGS technology to detect AR gene mutations.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available across India.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the results indicate?
Results show whether pathogenic mutations in the AR gene are present, confirming a genetic cause for hypospadias, or if further investigation is needed.
Is the test painful?
The test involves a simple blood draw or saliva collection, which is minimally invasive and generally painless.
Can this test be done during pregnancy?
Yes, it can be used for prenatal screening if there is a family history or risk factors, but consult a healthcare provider first.
What are the risks of the test?
Risks are minimal, such as slight bruising from blood draw. There are no significant health risks associated with the test itself.
How accurate is the test?
NGS technology provides high accuracy in detecting genetic mutations, but results should be interpreted by a genetic specialist.
What should I do after receiving the results?
Consult a genetic counselor or physician to discuss the results, understand implications, and plan for treatment or management.
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.

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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