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ESR1 Gene Estrogen resistance NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

ESR1 Gene Estrogen resistance NGS Genetic Test

Short Name: ESR1 NGS Test

Also known as: ESR1 Mutation Analysis, Estrogen Receptor Alpha Gene Test, ESR1 Gene Sequencing Test, Estrogen Resistance Genetic Test, ERα Gene NGS Test

ESR1 Gene Estrogen resistance 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 Results are typically available within 3 to 4 weeks from the date of sample collection. Reports can be accessed via the online portal, email, or WhatsApp.. Free home collection in 300+ cities across India.

Genetic TestFemaleAll 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 ESR1 Gene Estrogen Resistance NGS Genetic Test is to detect mutations in the ESR1 gene that may cause estrogen resistance. This test helps in the diagnosis of conditions related to impaired estrogen signaling, including infertility, delayed puberty, osteoporosis, and premature ovarian insufficiency. The results can guide clinical management, treatment decisions, and family planning counselling.

Test Code
2590
CPT Code
81479
ICD Code
E34.8
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Results are typically available within 3 to 4 weeks from the date of sample collection. Reports can be accessed via the online portal, email, or WhatsApp.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Genetic counselling is recommended before sample collection. Provide a detailed clinical history and a pedigree chart of family members affected with estrogen resistance or related conditions. No fasting is required. Inform the healthcare provider about any recent blood transfusions or medications.

Method: Venipuncture

Step 2

Laboratory Analysis

A qualified phlebotomist will collect a blood sample (approximately 3 to 5 mL) from a vein in the arm using standard venipuncture technique. Alternatively, extracted DNA or one drop of blood on an FTA card may be submitted. The collection procedure typically takes 5 to 10 minutes.

Step 3

Report Delivery

Apply gentle pressure to the puncture site with a cotton ball or gauze. A small bandage will be placed over the site. You may resume normal activities immediately. Mild bruising at the puncture site is normal and resolves within a few days. Results will be available within 3 to 4 weeks via the online portal, email, or WhatsApp.

Timeline: Results are typically available within 3 to 4 weeks from the date of sample collection. Reports can be accessed via the online portal, email, or WhatsApp.

Patient Instructions

1
Before the Test:A genetic counselling session is recommended before the test. During this session, a detailed clinical history and a pedigree chart of family members affected with estrogen resistance or related conditions will be prepared. No fasting is required. Inform your healthcare provider about any recent blood transfusions, current medications, or relevant medical history.
2
During the Test:A blood sample (approximately 3 to 5 mL) will be collected from a vein in your arm using standard venipuncture. The procedure typically takes 5 to 10 minutes and involves minimal discomfort. Alternatively, extracted DNA or one drop of blood on an FTA card may be submitted. The sample is then sent to the laboratory for NGS-based analysis of the ESR1 gene.
3
After the Test:After sample collection, apply gentle pressure to the puncture site. You may resume normal activities immediately. Mild bruising at the puncture site is normal and resolves within a few days. Results will be available within 3 to 4 weeks. A follow-up genetic counselling session is recommended to discuss the results and their implications for clinical management and family planning.

About This Test

Who Should Get This Test

The purpose of the ESR1 Gene Estrogen Resistance NGS Genetic Test is to detect mutations in the ESR1 gene that may cause estrogen resistance. This test helps in the diagnosis of conditions related to impaired estrogen signaling, including infertility, delayed puberty, osteoporosis, and premature ovarian insufficiency. The results can guide clinical management, treatment decisions, and family planning counselling.

How to Prepare

  • A blood sample of approximately 3 to 5 mL is collected in an EDTA (lavender top) tube via venipuncture
  • Alternatively, extracted DNA or one drop of blood on an FTA card may be submitted
  • No fasting is required prior to sample collection
  • Label the sample correctly with patient name, date of birth, and sample ID
  • Genetic counselling is recommended before sample collection to discuss the implications of testing
  • Store blood samples at 2-8°C if not processed immediately

Doctor's Notes

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

"As an obstetrician and gynecologist, I frequently encounter patients presenting with unexplained infertility, irregular menstrual cycles, or premature ovarian insufficiency. The ESR1 Gene Estrogen Resistance NGS Genetic Test is a valuable diagnostic tool that can help identify the underlying genetic cause of these conditions. Early detection of ESR1 gene mutations allows for timely intervention, personalized treatment planning, and informed reproductive counselling. I recommend this test for patients who present with symptoms suggestive of estrogen resistance, particularly those with a family history of similar endocrine disorders. Genetic counselling should be an integral part of the testing process to help patients and their families understand the implications of the results and to guide appropriate clinical management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3 to 5 mL
ContainerEDTA (Lavender Top) Tube or FTA Card
Collection MethodVenipuncture

Sample Stability

Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume (less than 2 mL)
  • Samples without proper labeling or identification
  • Contaminated or clotted EDTA samples
  • Samples received beyond the stability window
  • Samples collected in incorrect container type (e.g., heparin tube instead of EDTA)

Understanding Your Results

The results of the ESR1 Gene Estrogen Resistance NGS Genetic Test provide information about the presence or absence of mutations in the ESR1 gene. Results should be interpreted by a qualified geneticist or genetic counsellor in the context of the patient's clinical presentation and family history. The following guide explains the possible result categories:
📊

Pathogenic Variant Detected

A known disease-causing mutation in the ESR1 gene has been identified. This result is consistent with estrogen resistance. Clinical correlation with the patient's symptoms and family history is essential. Genetic counselling and further clinical evaluation are strongly recommended.

📊

Likely Pathogenic Variant Detected

A variant with strong evidence of disease association has been found. While not definitively confirmed as pathogenic, the available evidence suggests it is likely to cause estrogen resistance. Clinical correlation and possible family studies are advised.

📊

Variant of Uncertain Significance (VUS)

A genetic variant was detected, but current evidence is insufficient to determine its clinical significance. This result should not be used alone for clinical decision-making. Periodic re-evaluation as new evidence becomes available is recommended. Clinical correlation is essential.

📊

Likely Benign Variant

The variant detected is unlikely to be associated with estrogen resistance based on current evidence. Clinical correlation is advised if symptoms persist, and further investigation into other causes may be warranted.

📊

No Pathogenic Variant Detected

No known disease-causing mutations were identified in the ESR1 gene. This result does not completely exclude the possibility of estrogen resistance, which may be caused by mutations in other genes, epigenetic changes, or non-genetic factors. Clinical correlation and further evaluation may be necessary.

⚠️ When to Consult a Doctor:

Consult a genetic counsellor, endocrinologist, or obstetrician-gynecologist if you experience symptoms such as delayed puberty, irregular or absent menstrual periods, unexplained infertility, early menopause, or unexplained osteoporosis. A family history of estrogen resistance, ESR1 gene mutations, or related endocrine disorders also warrants medical consultation. Early diagnosis and intervention can help manage symptoms and guide treatment decisions.

Limitations

  • ⚠This test detects mutations only in the ESR1 gene and does not screen for mutations in other genes associated with estrogen resistance or related conditions
  • ⚠Variants of uncertain significance (VUS) may be identified, and their clinical relevance may not be fully understood at the time of testing
  • ⚠Deep intronic mutations and large structural rearrangements beyond the detection capability of NGS may not be identified
  • ⚠A negative result does not completely exclude the possibility of estrogen resistance caused by epigenetic or other non-genetic factors
  • ⚠Results should always be interpreted in conjunction with clinical findings and family history

Risks & Considerations

  • ●Minimal risks associated with blood draw, including minor bruising, slight pain at the puncture site, or very rarely, infection
  • ●Psychological impact of genetic test results, including anxiety or stress related to findings
  • ●Potential implications for family members who may carry the same genetic variant
  • ●Risk of receiving a variant of uncertain significance (VUS), which may cause uncertainty

Interfering Factors

  • ●Hemolyzed blood samples may affect DNA extraction quality
  • ●Recent blood transfusion within the past 4 weeks may affect results
  • ●Contaminated or improperly stored samples may yield inaccurate results
  • ●Low DNA concentration may require repeat sample collection

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Frequently Asked Questions

What is the ESR1 Gene Estrogen Resistance NGS Genetic Test?
The ESR1 Gene Estrogen Resistance NGS Genetic Test is a next-generation sequencing (NGS) based diagnostic test that analyzes the ESR1 gene for mutations. The ESR1 gene encodes the estrogen receptor alpha (ER?) protein, which mediates the effects of estrogen in the body. Mutations in this gene can lead to estrogen resistance, a condition where the body fails to respond properly to estrogen, causing symptoms such as infertility, delayed puberty, and osteoporosis.
Who should consider getting the ESR1 Gene Estrogen Resistance NGS Genetic Test?
This test is recommended for individuals experiencing symptoms such as delayed puberty, irregular or absent menstrual periods, unexplained infertility, early onset of menopause, or unexplained osteoporosis. It is also recommended for individuals with a family history of estrogen resistance or ESR1 gene mutations, and for those undergoing evaluation for premature ovarian insufficiency or suspected estrogen receptor dysfunction.
What sample is required for the ESR1 Gene Estrogen Resistance NGS Genetic Test?
The test requires a blood sample of approximately 3 to 5 mL collected in an EDTA (lavender top) tube. Alternatively, extracted DNA or one drop of blood on an FTA card may be submitted. No fasting is required prior to sample collection. Free home sample collection is available across India through DNA Labs India.
How long does it take to receive the results of the ESR1 Gene test?
Results of the ESR1 Gene Estrogen Resistance NGS Genetic Test are typically available within 3 to 4 weeks from the date of sample collection. Reports can be accessed through the online portal, email, or WhatsApp for your convenience.
What is the cost of the ESR1 Gene Estrogen Resistance NGS Genetic Test?
The cost of the ESR1 Gene Estrogen Resistance NGS Genetic Test at DNA Labs India is INR 20,000 (Rs 20000.0). This price includes free home sample collection, NGS-based gene sequencing, variant classification and interpretation, a genetic counselling report, and digital report delivery.
Is genetic counselling required before and after the ESR1 Gene test?
Yes, genetic counselling is strongly recommended both before and after the test. Before testing, a genetic counselling session helps prepare a detailed clinical history and family pedigree chart. After testing, counselling helps you understand the results, their implications for your health and family members, and guides appropriate clinical management and treatment decisions.
Can the ESR1 Gene Estrogen Resistance NGS Genetic Test be performed during pregnancy?
Yes, the test can be performed during pregnancy as it involves a standard blood draw from the mother and does not pose any risk to the fetus. However, it is important to discuss the timing and implications of genetic testing with your obstetrician-gynecologist and genetic counsellor before proceeding.
What does a positive (pathogenic variant detected) result mean?
A positive result means that a known disease-causing mutation in the ESR1 gene has been identified. This is consistent with estrogen resistance and may explain symptoms such as infertility, irregular periods, or osteoporosis. A positive result does not necessarily mean that all symptoms are caused by the mutation, and clinical correlation with a healthcare provider is essential. Genetic counselling is recommended to discuss the implications for treatment, family planning, and screening of family members.
Is the ESR1 Gene Estrogen Resistance NGS Genetic Test covered by insurance in India?
Genetic testing, including the ESR1 Gene Estrogen Resistance NGS Genetic Test, is generally not covered by standard health insurance policies in India. However, coverage may vary depending on your insurance provider and policy terms. Government schemes such as PMJAY, CGHS, ECHS, and ESIC may have specific provisions for genetic testing. It is advisable to check with your insurance provider or the relevant government authority for coverage eligibility.
Can males undergo the ESR1 Gene Estrogen Resistance NGS Genetic Test?
Yes, males can undergo this test. While estrogen resistance is more commonly associated with female reproductive health, the ESR1 gene is expressed in both males and females. Males with symptoms such as unexplained osteoporosis, abnormal lipid profiles, or a family history of ESR1 gene mutations may benefit from testing. Estrogen plays a role in bone health and cardiovascular function in males as well.
What is the difference between NGS and Sanger sequencing for ESR1 gene testing?
Next-Generation Sequencing (NGS) and Sanger sequencing are both methods used for genetic testing, but they differ in several ways. NGS offers higher throughput, greater sensitivity (>99%), and the ability to sequence the entire coding region of the ESR1 gene simultaneously, detecting a wide range of variant types including SNVs, insertions, and deletions. Sanger sequencing is a targeted approach that sequences one fragment at a time and may miss variants outside the targeted region. NGS is the preferred method for comprehensive gene analysis and is used for the ESR1 Gene Estrogen Resistance NGS Genetic Test at DNA Labs India.
Where is the ESR1 Gene Estrogen Resistance NGS Genetic Test available?
The ESR1 Gene Estrogen Resistance NGS Genetic Test is available at DNA Labs India, a leading genetic testing laboratory. Free home sample collection is available across India in major cities including Mumbai, Delhi, Bangalore, Hyderabad, Ahmedabad, Chennai, Kolkata, Pune, Jaipur, Lucknow, Chandigarh, and many more. You can book the test online or contact DNA Labs India for assistance.
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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