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CAH (Congenital Adrenal Hyperplasia) Full Gene Sequence Analysis Test

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CAH (Congenital Adrenal Hyperplasia) Full Gene Sequence Analysis Test

Short Name: CAH Full Gene Sequence Analysis

Also known as: Congenital Adrenal Hyperplasia Genetic Test, CAH Gene Sequencing

CAH (Congenital Adrenal Hyperplasia) Full Gene Sequence Analysis Test test available at DNA Labs India for ₹15,000. Uses Sanger Sequencing on Peripheral blood samples. Results in 4-5 weeks. Free home collection in 300+ cities across India.

Genetic Analysis🏠 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 the CAH Full Gene Sequence Analysis is to identify genetic mutations causing Congenital Adrenal Hyperplasia for accurate diagnosis, carrier detection, and informed management decisions.

Test Code
2950
Price
₹15,000
Sample Type
Peripheral blood
Result Time
4-5 weeks
Fasting Required
No
Method
Sanger Sequencing
Step 1

Sample Collection

Doctor's prescription is required for the test.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard blood collection procedure via venipuncture.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising.

Timeline: 4-5 weeks

Patient Instructions

1
Before the Test:Obtain a doctor's prescription and ensure sample collection instructions are followed.
2
During the Test:Blood sample is collected and sent to the lab for analysis.
3
After the Test:Results are available online after 4-5 weeks; follow up with a healthcare provider.

About This Test

Who Should Get This Test

The purpose of the CAH Full Gene Sequence Analysis is to identify genetic mutations causing Congenital Adrenal Hyperplasia for accurate diagnosis, carrier detection, and informed management decisions.

How to Prepare

  • Collect 2ml peripheral blood in EDTA vacutainer
  • Keep sample cool during transport using a cool pack

Doctor's Notes

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

"Early genetic testing for CAH can guide treatment and prevent complications. Consult a specialist for personalized care."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypePeripheral blood
Sample Volume2ml
ContainerEDTA Vacutainer
Collection MethodVenipuncture

Understanding Your Results

Results indicate the presence or absence of genetic mutations associated with CAH. Consult a healthcare provider for interpretation.
Positive result: Pathogenic variants detected, confirming CAH diagnosis.
Negative result: No pathogenic variants detected, but clinical correlation is advised.
Variant of uncertain significance: Further testing may be needed.
⚠️ When to Consult a Doctor:

Consult a doctor if symptoms of CAH are present, for genetic counseling, or after receiving test results.

Limitations

  • ⚠May not detect all genetic mutations
  • ⚠Requires clinical correlation for diagnosis

Risks & Considerations

  • ●Minor bruising at puncture site
  • ●Rare infection risk

Frequently Asked Questions

What is Congenital Adrenal Hyperplasia (CAH)?
CAH is a genetic disorder affecting the adrenal glands, leading to hormone imbalances due to enzyme deficiencies.
What does the CAH Full Gene Sequence Analysis test involve?
It involves sequencing the entire gene associated with CAH to identify mutations using Sanger sequencing on a blood sample.
How is the sample collected for this test?
A peripheral blood sample is collected in an EDTA vacutainer via venipuncture, with home collection available.
What is the cost of the CAH Full Gene Sequence Analysis test?
The test costs INR 15000 at DNA Labs India, including home sample collection.
How long does it take to get results?
Results are typically available within 4-5 weeks after sample collection.
Is fasting required for this test?
No, fasting is not required for the CAH Full Gene Sequence Analysis test.
Who should consider getting this test?
Individuals with symptoms of CAH, a family history of the disorder, or for carrier testing should consider this test.
What are the limitations of genetic testing for CAH?
The test may not detect all mutations, and results should be correlated with clinical findings.
Can this test be used for carrier testing?
Yes, it can identify carriers of CAH mutations for genetic counseling.
What is the significance of a positive result?
A positive result confirms a genetic diagnosis of CAH, guiding treatment and management.
Is home sample collection available for this test?
Yes, free home sample collection is available across many cities in India for online bookings.
How accurate is the CAH Full Gene Sequence Analysis test?
The test is highly accurate for detecting known mutations, but clinical correlation is essential for diagnosis.
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

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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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