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CYP11B1 Gene Adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency NGS Genetic Test

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CYP11B1 Gene Adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency NGS Genetic Test

Short Name: CYP11B1 Genetic Test

Also known as: 11-Beta-Hydroxylase Deficiency Test, CYP11B1 Mutation Analysis, Congenital Adrenal Hyperplasia Genetic Test

CYP11B1 Gene Adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency 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.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To identify mutations in the CYP11B1 gene for diagnosis, carrier screening, and management of adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency.

Test Code
1878
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

Ensure informed consent and genetic counseling session. Provide clinical and family history.

Method: Venipuncture for blood

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or use of FTA card. Procedure is minimally invasive.

Step 3

Report Delivery

Sample labeled and transported to lab under ambient conditions. Await results in 3-4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications and draw a pedigree chart. No special preparation needed.
2
During the Test:Simple blood draw or DNA sample collection. The test analyzes the CYP11B1 gene using NGS technology.
3
After the Test:Results delivered in 3-4 weeks. Follow-up with a genetic counselor for interpretation and management plan.

About This Test

Who Should Get This Test

To identify mutations in the CYP11B1 gene for diagnosis, carrier screening, and management of adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency.

How to Prepare

  • No fasting required for this genetic test
  • Provide accurate clinical and family history
  • Ensure proper identification and labeling of sample
  • Follow instructions for FTA card if used

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"This test is vital for early detection and management of 11-beta-hydroxylase deficiency, helping to prevent complications like hypertension and renal issues."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture for blood

Sample Stability

Blood samples stable at room temperature for up to 48 hours
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or insufficient sample
  • Incorrectly labeled or contaminated samples
  • Samples without proper documentation

Understanding Your Results

Results indicate presence or absence of pathogenic mutations in the CYP11B1 gene. Consult a genetic specialist for detailed interpretation.
Positive result: Pathogenic mutation detected, indicating risk or diagnosis of 11-beta-hydroxylase deficiency
Negative result: No pathogenic variants found, but may not rule out other causes
Variant of uncertain significance: Further testing or family studies may be needed
Carrier status: One mutation detected, indicating carrier risk for passing to offspring
⚠️ When to Consult a Doctor:

Consult a doctor if you have symptoms of adrenal hyperplasia, a family history, or receive abnormal test results for management and genetic counseling.

Limitations

  • ⚠May not detect all types of mutations or variants of uncertain significance
  • ⚠Results require interpretation by a genetic counselor or specialist
  • ⚠Does not rule out other genetic or environmental factors

Risks & Considerations

  • ●Minor bruising or discomfort at blood draw site
  • ●Emotional impact of genetic results; counseling provided

Interfering Factors

  • ●Poor sample quality or contamination
  • ●Recent blood transfusions may affect DNA analysis

Frequently Asked Questions

What is the CYP11B1 gene test?
This test uses NGS technology to detect mutations in the CYP11B1 gene, which causes steroid 11-beta-hydroxylase deficiency, a form of congenital adrenal hyperplasia.
Who should get this genetic test?
Individuals with symptoms like high blood pressure, low potassium, or irregular periods; those with family history; or for carrier screening.
How is the test performed?
A blood sample or DNA drop is collected and analyzed using Next-Generation Sequencing to identify genetic mutations.
What are the symptoms of 11-beta-hydroxylase deficiency?
Symptoms include hypertension, hypokalemia, menstrual irregularities in women, early puberty in boys, and enlarged adrenal glands.
Is the test painful?
The blood draw involves minimal discomfort, similar to a routine blood test. No significant pain is expected.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is the test covered by insurance?
Yes, it is covered by most insurance plans. Coverage details may vary, so check with your provider.
Can children undergo this test?
Yes, the test can be performed on individuals of all ages, including children, with appropriate consent.
What if I am a carrier of the mutation?
Carriers have one mutated gene and may not show symptoms but can pass it to offspring. Genetic counseling is recommended.
How accurate is the test?
NGS technology provides high accuracy for detecting known mutations, but interpretation by a genetic expert is essential.
Are there any risks associated with the test?
Risks are minimal, mainly related to blood draw. Emotional aspects are addressed through genetic counseling.
What should I do after receiving the results?
Consult a genetic counselor or endocrinologist to understand implications, management options, and family planning.
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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