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CYP19A1 Gene Aromatase deficiency NGS Genetic Test

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CYP19A1 Gene Aromatase deficiency NGS Genetic Test

Short Name: Aromatase Deficiency NGS Test

Also known as: CYP19A1 Deficiency Test, Aromatase Enzyme Genetic Test

CYP19A1 Gene Aromatase 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 3-4 weeks. Free home collection in 300+ cities across India.

Genetic Test🏠 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 Aromatase Deficiency by identifying mutations in the CYP19A1 gene, aiding in early management and prevention of complications.

Test Code
5521
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

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

Method: Venipuncture or Saliva collection

Step 2

Laboratory Analysis

Sample collected via venipuncture for blood or non-invasive saliva collection.

Step 3

Report Delivery

Sample sent to laboratory for analysis; patient advised to follow up for results.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review.
2
During the Test:Sample collection and processing.
3
After the Test:Report delivery and follow-up counseling.

About This Test

Who Should Get This Test

To diagnose Aromatase Deficiency by identifying mutations in the CYP19A1 gene, aiding in early management and prevention of complications.

How to Prepare

  • Provide clinical history
  • Attend genetic counseling
  • Ensure sample integrity
  • Follow fasting guidelines if applicable

Doctor's Notes

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

"Early genetic testing for Aromatase Deficiency can guide treatment and improve reproductive and bone health outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube or FTA Card
Collection MethodVenipuncture or Saliva collection

Sample Stability

Blood: 7 days at 2-8°C
FTA Card: Room temperature for up to 30 days
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Improperly labeled sample

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the CYP19A1 gene, which correlate with Aromatase Deficiency.
Positive result: Pathogenic variants detected, confirm diagnosis and guide treatment.
Negative result: No pathogenic variants, but clinical correlation needed.
Variant of uncertain significance: Further testing or family studies recommended.
⚠️ When to Consult a Doctor:

Consult a healthcare provider if symptoms of Aromatase Deficiency are present or after receiving test results for management planning.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results may have psychological implications

Risks & Considerations

  • ●Minimal physical risk from sample collection
  • ●Psychological impact of results
  • ●Privacy concerns with genetic data

Interfering Factors

  • ●Sample degradation
  • ●Contamination
  • ●Incorrect sample type

Frequently Asked Questions

What is the CYP19A1 Gene Aromatase Deficiency NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the CYP19A1 gene, which causes Aromatase Deficiency.
Why is this test recommended?
It is recommended for individuals with symptoms like delayed puberty, infertility, or bone density issues to confirm Aromatase Deficiency.
What are the symptoms of Aromatase Deficiency?
Symptoms include delayed puberty, lack of menstruation, infertility, decreased bone density, short stature, and hormonal imbalances.
How is the test performed?
The test involves analyzing a blood or saliva sample using NGS technology to identify genetic variants.
What sample is required?
Blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required for this test?
No, fasting is not required.
How long does it take to get results?
Results are typically available within 3-4 weeks.
What is the cost of the test?
The cost is INR 20000.0, with home collection available.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across India.
How accurate is the NGS Genetic Test?
NGS technology provides high accuracy for detecting genetic mutations, but genetic counseling is advised for interpretation.
What should I do if I get a positive result?
Consult a healthcare provider for management options, which may include hormone therapy or monitoring.
Is genetic counseling necessary?
Yes, genetic counseling is recommended before and after testing to understand implications and guide decisions.
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.

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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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