AR Gene Hypospadias type 1, X-linked NGS Genetic Test
Short Name: AR Gene Hypospadias NGS
Also known as: AR Gene Mutation Test, Androgen Receptor Gene NGS, X-linked Hypospadias Genetic Test
AR Gene Hypospadias type 1, X-linked 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 Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 3, 2026
Overview
The purpose of this NGS genetic test is to identify mutations in the AR gene that cause X-linked hypospadias type 1. This test helps confirm a clinical diagnosis, differentiate from other forms of hypospadias, assess the risk of androgen insensitivity syndrome, and provide essential information for genetic counseling and family planning. It also aids in predicting the severity of the condition and guiding personalized treatment strategies.
- Test Code
- 5797
- CPT Code
- 81408
- ICD Code
- Q54.1
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended prior to testing to discuss the implications and obtain informed consent.
Method: Venipuncture or FTA card blood spot
Laboratory Analysis
A blood sample will be collected by a trained phlebotomist. For FTA card, a few drops of blood will be placed on the card. The procedure is quick and minimally invasive.
Report Delivery
No specific aftercare is needed. The sample will be sent to the laboratory for analysis. Results will be available in 3-4 weeks.
Timeline: Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to identify mutations in the AR gene that cause X-linked hypospadias type 1. This test helps confirm a clinical diagnosis, differentiate from other forms of hypospadias, assess the risk of androgen insensitivity syndrome, and provide essential information for genetic counseling and family planning. It also aids in predicting the severity of the condition and guiding personalized treatment strategies.
How to Prepare
- Ensure the patient's identity is verified with a valid ID.
- Use EDTA tube for blood collection; mix gently to prevent clotting.
- For FTA card, allow the blood spot to air dry completely before packaging.
- Label the sample with patient name, date, and unique ID.
- Transport the sample at ambient temperature; avoid extreme heat or cold.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic diagnosis of AR gene mutations can guide surgical planning and family counseling for X-linked hypospadias."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample exposed to extreme temperatures
Understanding Your Results
Positive
A pathogenic variant in the AR gene was identified, confirming the diagnosis of X-linked hypospadias type 1.
Action: Genetic counseling is recommended to discuss implications for the patient and family.
Negative
No pathogenic variants were found in the AR gene. This does not rule out other genetic causes.
Action: Consider testing for other genes associated with hypospadias if clinical suspicion remains high.
Variant of Uncertain Significance
A genetic variant was found, but its clinical significance is unknown.
Action: Further family studies or functional assays may be needed to clarify the variant's role.
Consult a pediatric urologist or clinical geneticist if your child has hypospadias, especially if there is a family history of the condition, or if you are planning a pregnancy and have a known AR gene mutation in the family.
Limitations
- ⚠This test detects mutations in the AR gene only; other genetic causes of hypospadias are not evaluated.
- ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be required.
- ⚠Variants of uncertain significance may require further family studies.
- ⚠Test does not predict the severity of hypospadias or response to surgery.
Risks & Considerations
- ●No significant physical risks associated with blood draw, except minor bruising or discomfort.
- ●Psychological impact of genetic results on family members.
- ●Potential for incidental findings unrelated to the primary condition.
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Recent blood transfusion (within 2 weeks) may dilute DNA
- ●Bone marrow transplant recipients may have mixed DNA
- ●Incorrect sample labeling or handling
Compare With Similar Tests
| Test | AR Gene Hypospadias type 1, X-linked NGS Genetic Test | Whole Exome Sequencing (WES) | AR Gene Targeted Mutation Analysis | Chromosomal Microarray (CMA) |
|---|---|---|---|---|
| Comparison | AR Gene Hypospadias type 1, X-linked NGS Genetic Test |
Frequently Asked Questions
What is the cost of the AR Gene Hypospadias Type 1 NGS Genetic Test?
What sample is required for this test?
How long does it take to get the results?
Is fasting required before the test?
Can this test be done on a newborn?
What does a positive result mean?
Are there any risks associated with the test?
Is home sample collection available?
Will insurance cover this test?
Can this test detect all types of hypospadias?
What is the role of genetic counseling?
How accurate is the NGS test?
Related Tests
Amyloid Protein Identification Test
₹300,000CLCNKB Gene Bartter syndrome type 3 NGS Genetic Test
₹20,000SLC12A7 Gene Bartter syndrome NGS Genetic Test
₹20,000SLC12A5 Gene Bartter syndrome NGS Genetic Test
₹20,000SLC12A2 Gene Bartter syndrome NGS Genetic Test
₹20,000KCNJ1 Gene Bartter syndrome type 2 NGS Genetic Test
₹20,000Reference Laboratory Services
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.
Your Data Privacy
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.
Book Your Test
Enter your details and we'll connect you within 15 minutes.