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Congenital adrenal hyperplasia Panel NGS Genetic Test

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Congenital adrenal hyperplasia Panel NGS Genetic Test

Short Name: CAH Panel NGS Genetic Test

Also known as: Congenital Adrenal Hyperplasia, CAH

Congenital adrenal hyperplasia Panel 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 3 to 4 weeks. Free home collection in 300+ cities across India.

NGS Genetic PanelAll ages, commonly diagnosed in infancy or childhood🏠 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

To diagnose Congenital Adrenal Hyperplasia by identifying genetic mutations in associated genes, enabling accurate diagnosis, treatment planning, and genetic counseling.

Test Code
5358
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Clinical history of patient and genetic counseling session recommended to draw a pedigree chart of family members affected with CAH.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

Standard blood draw or sample collection procedure using sterile equipment.

Step 3

Report Delivery

Sample is labeled and sent to the laboratory for NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to discuss test implications, family history, and obtain informed consent.
2
During the Test:Sample collection via blood draw or alternative methods as specified.
3
After the Test:Wait for results (3-4 weeks) and schedule follow-up with a healthcare provider for interpretation and next steps.

About This Test

Who Should Get This Test

To diagnose Congenital Adrenal Hyperplasia by identifying genetic mutations in associated genes, enabling accurate diagnosis, treatment planning, and genetic counseling.

How to Prepare

  • Ensure proper patient identification and labeling
  • Use sterile collection tubes or FTA cards
  • Follow laboratory guidelines for sample handling
  • Avoid contamination during collection

Doctor's Notes

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

"Early genetic testing for CAH is crucial for guiding treatment, preventing adrenal crises, and informing family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeVaries based on sample type
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Blood samples stable for 48 hours at room temperature
FTA card samples stable for extended periods at ambient temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Incorrect or missing labeling
  • Insufficient sample volume
  • Contaminated samples

Understanding Your Results

Results indicate the presence or absence of genetic mutations associated with Congenital Adrenal Hyperplasia.
📊

Normal

No pathogenic variants detected in the analyzed genes, reducing likelihood of CAH.

📊

Abnormal

Pathogenic variants detected, confirming diagnosis of CAH. Further clinical correlation and treatment recommended.

📊

Variant of Uncertain Significance

Genetic variant identified but clinical significance unknown. Additional testing or family studies may be needed.

⚠️ When to Consult a Doctor:

If symptoms of CAH are present, such as abnormal genitalia, early puberty, or adrenal crises, or if there is a family history of CAH. Consult a genetic counselor or endocrinologist for guidance.

Limitations

  • ⚠May not detect all genetic variants or mutations
  • ⚠Results may include variants of uncertain significance
  • ⚠Requires genetic counseling for interpretation
  • ⚠Not suitable for prenatal diagnosis without additional validation

Risks & Considerations

  • ●Minor bruising or discomfort at blood draw site
  • ●Rare risk of infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Poor sample quality or contamination
  • ●Insufficient DNA quantity
  • ●Hemolyzed or degraded samples

Compare With Similar Tests

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ComparisonCongenital adrenal hyperplasia Panel NGS Genetic Test

Frequently Asked Questions

What is Congenital Adrenal Hyperplasia (CAH)?
CAH is a group of genetic disorders affecting the adrenal glands, leading to hormone imbalances and symptoms like abnormal genitalia, early puberty, and adrenal crises.
What does the CAH Panel NGS Genetic Test involve?
It uses Next-Generation Sequencing to analyze multiple genes associated with CAH, such as CYP21A2, to identify genetic mutations for diagnosis.
Who should get tested for CAH?
Individuals with symptoms of CAH, family history of the disorder, or hormonal abnormalities should consider testing, often recommended by endocrinologists or geneticists.
How is the sample collected for this test?
Sample can be collected via blood draw, extracted DNA, or a drop of blood on an FTA card, with home collection available.
What is the cost of the CAH Panel NGS Genetic Test?
The test costs INR 20000 at DNA Labs India, with free home sample collection across India.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India.
What genes are analyzed in this test?
The test analyzes genes including CYP11A1, CYP11B1, CYP17A1, CYP21A2, HSD3B2, POR, PRKAR1A, and STAR.
What are the symptoms of CAH?
Symptoms include abnormal genitalia in females, early puberty, excessive hair growth, failure to thrive, hypertension, and adrenal crises.
How accurate is the NGS genetic test for CAH?
NGS technology provides high accuracy in detecting genetic mutations, but results should be interpreted with clinical correlation and genetic counseling.
Can this test be used for prenatal diagnosis?
This test is primarily for postnatal diagnosis; prenatal testing may require additional methods and genetic counseling.
What should I do if the test results are positive?
Consult a healthcare provider or genetic counselor for diagnosis confirmation, treatment options, and family planning advice.
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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For Hospitals & Clinics

Reference 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.

LIMS Integration

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.

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