Skip to main content
DNA Labs India

FOXL2 Gene Blepharophimosis, Epicanthus Inversus, and Ptosis NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

FOXL2 Gene Blepharophimosis, Epicanthus Inversus, and Ptosis NGS Genetic Test

Short Name: FOXL2 BPES NGS

Also known as: BPES NGS Test, FOXL2 Mutation Test, Blepharophimosis Syndrome Genetic Test

FOXL2 Gene Blepharophimosis, Epicanthus Inversus, and Ptosis 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 after the laboratory receives the sample.. Free home collection in 300+ cities across India.

NGS 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 this test is to identify disease-causing variants in the FOXL2 gene in individuals with clinical features of blepharophimosis, epicanthus inversus, and ptosis, and in asymptomatic family members at risk of inheriting the mutation. It also aids in establishing a molecular diagnosis, facilitating carrier detection, and providing guidance for reproductive and clinical management.

Test Code
3771
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 after the laboratory receives the sample.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No prior preparation is required. Bring a valid ID proof and any previous medical records or test reports.

Method: Venipuncture or FTA card spot

Step 2

Laboratory Analysis

A trained phlebotomist will collect a small amount of blood from your arm. If an FTA card is used, a single finger-prick blood spot is placed on the card. The procedure is quick and causes minimal discomfort.

Step 3

Report Delivery

You can resume your daily routine immediately. No special care is needed after sample collection. You will be notified when the report is ready.

Timeline: Results are typically available within 3 to 4 weeks after the laboratory receives the sample.

Patient Instructions

1
Before the Test:No special preparations are required for this test. You may eat and drink normally before sample collection. Ensure you have a valid doctor's referral if required.
2
During the Test:A blood sample or FTA card blood spot is collected. The process takes only a few minutes.
3
After the Test:After collection, you can go about your daily activities. The test results will be delivered in 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to identify disease-causing variants in the FOXL2 gene in individuals with clinical features of blepharophimosis, epicanthus inversus, and ptosis, and in asymptomatic family members at risk of inheriting the mutation. It also aids in establishing a molecular diagnosis, facilitating carrier detection, and providing guidance for reproductive and clinical management.

How to Prepare

  • No fasting is required.
  • Blood must be collected in an EDTA vacutainer.
  • Label the sample clearly with patient's full name, date of birth, and date of collection.
  • For FTA card, ensure the blood spot is completely air-dried before sealing.
  • Sample should be transported at ambient temperature to the laboratory within 48 hours.

Doctor's Notes

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

"Genetic testing for FOXL2 mutations is essential to differentiate BPES from other congenital ptosis syndromes. For affected women, early molecular confirmation allows monitoring for premature ovarian insufficiency and provides reproductive options such as preimplantation genetic testing."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 mL blood or 5-10 µL DNA
ContainerEDTA vacutainer or FTA card
Collection MethodVenipuncture or FTA card spot

Sample Stability

Blood (EDTA): 24-48 hours at room temperature
Extracted DNA: 1 week at 4°C
FTA card: Several months at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample quantity
  • Mislabeled or unlabeled sample
  • Sample received after 48 hours without proper storage

Understanding Your Results

The report provides a molecular interpretation of the FOXL2 gene sequence. Results are classified according to standard guidelines (e.g., ACMG/AMP) as pathogenic, likely pathogenic, variant of uncertain significance, likely benign, or benign.
Negative / No pathogenic variant: Reduces the likelihood of FOXL2-related BPES, but does not rule out other genetic causes.
Positive / Pathogenic variant detected: Confirms the clinical diagnosis and enables predictive testing in at-risk family members.
Variant of Uncertain Significance (VUS): The clinical significance is unknown. Additional testing of affected and unaffected family members may be needed to determine its pathogenicity.
⚠️ When to Consult a Doctor:

If you have a positive result, a pathogenic variant, or a VUS result, consult your physician or a genetic counselor for a detailed discussion about clinical implications, disease management, and family planning.

Risks & Considerations

  • ●Minimal risk of bruising or infection at the blood draw site
  • ●Psychological impact of genetic results
  • ●Possible incidental findings unrelated to the primary condition

Interfering Factors

  • ●Presence of maternal cell contamination
  • ●Poor DNA integrity
  • ●Incomplete gene coverage due to technical limitations
  • ●Patient hematopoietic stem cell transplant (may affect results)

Frequently Asked Questions

What is the FOXL2 gene BPES NGS genetic test?
This test uses next-generation sequencing to detect mutations in the FOXL2 gene associated with blepharophimosis, epicanthus inversus, and ptosis syndrome (BPES). It helps confirm the clinical diagnosis and enables genetic counseling.
What are the symptoms of FOXL2 gene mutations?
Symptoms include blepharophimosis (shortened eyelid opening), epicanthus inversus (abnormal eyelid fold), ptosis (drooping eyelid), and in type I, premature ovarian insufficiency. Other facial abnormalities may also be present.
How is the test performed?
DNA is extracted from a blood sample or FTA card. The FOXL2 gene is analyzed using NGS technology to identify any pathogenic variants. Results are sent to the clinician or patient in a secure report.
What is the cost of the test in India?
The cost at DNA Labs India is Rs 20,000. This includes the NGS analysis and a clinical report. Home sample collection is free for online bookings.
What sample type is required?
The test requires either 2-3 mL blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card. Sample type can be discussed during booking.
How long does it take to get results?
Reports are available within 3 to 4 weeks after the sample reaches the laboratory.
Is fasting required before the test?
No, fasting is not required. You can eat and drink normally before the blood sample collection.
Who should take this test?
This test is recommended for individuals with clinical features of BPES, those with a family history of FOXL2 mutations, and couples planning a family where a parent is affected or carries a known mutation.
Can children be tested?
Yes, children can be tested, especially if they have characteristic eyelid findings. A pediatrician or genetic counselor can guide the family through the testing process.
What is the difference between BPES type I and type II?
BPES type I includes premature ovarian insufficiency in addition to eyelid abnormalities, while type II affects only the eyelids. Both types are caused by FOXL2 mutations.
Are the test results confidential?
Yes, DNA Labs India follows strict data protection and confidentiality policies. Results are shared only with the patient or authorized healthcare providers.
How can I book the test?
You can book online through the DNA Labs India website or contact the call center. A free home sample collection slot can be arranged in your city.
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.

Related Tests

Leber's Hereditary Optic Neuropathy (LHON) Mitochondrial Mutation Detection Test

₹25,000

Nx Gen Sequencing: Glaucoma Test

₹28,665

Nx Gen Sequencing: Corneal Dystrophy Test

₹28,665

Nx Gen Sequencing: Leber Congenital Amaurosis Test

₹28,665

Nx Gen Sequencing: Optic Atrophy Test

₹28,665

GPR143 Gene Albinism, Ocular Type I, Nettleship-Falls Type NGS Genetic Test

₹20,000
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.