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DNA Labs India

CAH Deletion & Duplication Detection Test

DNA Labs India | ISO 9001:2015 Certified

CAH Deletion & Duplication Detection Test

Short Name: CAH Del/Dup Detection

Also known as: CAH Genetic Test, Congenital Adrenal Hyperplasia Deletion & Duplication Test

CAH Deletion & Duplication Detection Test test available at DNA Labs India for ₹10,500. Uses MLPA on Peripheral blood samples. Results in 7-10 days from sample collection. Free home collection in 300+ cities across India.

Genetic TestAll Ages🏠 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 Deletion & Duplication Detection test is to identify genetic deletions or duplications in genes associated with Congenital Adrenal Hyperplasia, aiding in accurate diagnosis, treatment planning, and genetic counseling for affected individuals and their families.

Test Code
2956
Price
₹10,500
Sample Type
Peripheral blood
Result Time
7-10 days from sample collection
Fasting Required
No
Method
MLPA
Step 1

Sample Collection

No specific preparation required. Ensure a doctor's prescription is available if needed.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm using standard venipuncture techniques.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Resume normal activities unless advised otherwise.

Timeline: 7-10 days from sample collection

Patient Instructions

1
Before the Test:No fasting required. Ensure doctor's prescription is available if needed.
2
During the Test:A small blood sample is collected via venipuncture, typically taking a few minutes.
3
After the Test:Mild soreness at the puncture site may occur. Results are delivered within 7-10 days.

About This Test

Who Should Get This Test

The purpose of the CAH Deletion & Duplication Detection test is to identify genetic deletions or duplications in genes associated with Congenital Adrenal Hyperplasia, aiding in accurate diagnosis, treatment planning, and genetic counseling for affected individuals and their families.

How to Prepare

  • Bring a valid doctor's prescription if applicable
  • Wear loose clothing for easy access to the arm
  • Stay hydrated before the test
  • Inform the phlebotomist of any bleeding disorders or medications

Doctor's Notes

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

"This test is essential for confirming CAH diagnosis, guiding treatment decisions, and informing family planning for affected individuals."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypePeripheral blood
Sample Volume2 ml
ContainerEDTA Vacutainer
Collection MethodVenipuncture

Sample Stability

Room temperature24 hours
Refrigerated72 hours
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrect sample container
  • Unlabeled or mislabeled samples

Understanding Your Results

Results indicate the presence or absence of deletions or duplications in CAH-associated genes. Positive results confirm genetic changes linked to CAH, while negative results suggest no detectable alterations.
📊

Positive for deletion/duplication

Confirms genetic basis for CAH; further clinical correlation and genetic counseling recommended.

📊

Negative for deletion/duplication

No detectable genetic changes; consider other diagnostic tests if clinical suspicion remains.

⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms of CAH, have a family history, or receive abnormal test results for appropriate management and counseling.

Limitations

  • ⚠May not detect all genetic variants causing CAH
  • ⚠Requires confirmation with additional genetic tests in some cases
  • ⚠Results should be interpreted in conjunction with clinical findings

Risks & Considerations

  • ●Minor bruising or pain at the blood draw site
  • ●Rare risk of infection or fainting
  • ●No significant long-term risks

Interfering Factors

  • ●Sample contamination
  • ●Improper sample storage
  • ●Recent blood transfusion
  • ●Use of certain medications affecting DNA integrity

Compare With Similar Tests

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ComparisonCAH Deletion & Duplication Detection

Frequently Asked Questions

What is the CAH Deletion & Duplication Detection test?
It is a genetic test that identifies deletions or duplications in genes associated with Congenital Adrenal Hyperplasia (CAH).
How is the test performed?
The test uses MLPA method on a peripheral blood sample to detect genetic changes.
What is the cost of the test?
The test costs INR 10500 at DNA Labs India.
Is home sample collection available?
Yes, free home collection is available across India for online bookings.
How long does it take to get results?
Results are typically available within 7-10 days.
What are the symptoms of CAH?
Symptoms include excessive hair growth, acne, irregular menstruation, muscle weakness, decreased fertility, low blood pressure, dehydration, vomiting, and weight loss.
Who should get this test?
Individuals with suspected CAH, family history of CAH, or related symptoms should consider this test.
Is the test covered by insurance?
Coverage depends on your insurance plan; check with your provider.
What is the MLPA method?
MLPA stands for Multiplex Ligation-dependent Probe Amplification, a technique for detecting DNA copy number variations.
Can the test detect all types of CAH?
It detects deletions/duplications in CAH-associated genes, but other genetic variants may require additional tests.
What should I do if the test is positive?
Consult a healthcare provider for diagnosis confirmation, treatment options, and genetic counseling.
Are there any risks associated with the test?
Risks are minimal, including minor bruising or pain at the blood draw site.
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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