Skip to main content
DNA Labs India

ZFHX4 Gene Ptosis, congenital NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

ZFHX4 Gene Ptosis, congenital NGS Genetic Test

Short Name: ZFHX4 Ptosis NGS Test

Also known as: Congenital Ptosis Genetic Test, ZFHX4 Mutation Analysis

ZFHX4 Gene Ptosis, congenital 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 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose ZFHX4 gene mutations causing congenital ptosis and guide clinical management.

Test Code
1791
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Genetic counseling session recommended to draw pedigree chart and discuss implications.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via standard venipuncture or FTA card for one drop blood.

Step 3

Report Delivery

Sample processed for DNA extraction and next-generation sequencing analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to discuss test benefits, risks, and limitations.
2
During the Test:Blood sample drawn and sent to the laboratory for DNA extraction and NGS analysis.
3
After the Test:Results available in 3-4 weeks. Genetic counseling recommended to interpret results and plan next steps.

About This Test

Who Should Get This Test

To diagnose ZFHX4 gene mutations causing congenital ptosis and guide clinical management.

How to Prepare

  • Collect blood sample in appropriate tube or use FTA card
  • Label sample correctly with patient details
  • Store at ambient room temperature until shipment

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture

Understanding Your Results

Results indicate presence or absence of mutations in the ZFHX4 gene associated with congenital ptosis.
Positive: Pathogenic mutation detected, confirming genetic basis of ptosis
Negative: No pathogenic variants found; clinical symptoms may require further evaluation
Variant of Uncertain Significance (VUS): May need additional family studies or functional analysis
⚠️ When to Consult a Doctor:

If symptoms of congenital ptosis are present, especially with a family history, consult a healthcare provider for genetic testing and counseling.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Results require correlation with clinical findings
  • ⚠Not suitable for carrier testing without family history

Risks & Considerations

  • ●Slight pain or bruising at the blood draw site
  • ●Rare risk of infection
  • ●Emotional impact of genetic results

Frequently Asked Questions

What is ZFHX4 Gene Ptosis?
ZFHX4 Gene Ptosis is a rare genetic disorder caused by mutations in the ZFHX4 gene, leading to congenital drooping of the upper eyelid due to muscle development issues.
What causes ZFHX4 Gene Ptosis?
It is caused by pathogenic mutations in the ZFHX4 gene, which is involved in muscle and tissue development, typically inherited in an autosomal dominant pattern.
What are the common symptoms of congenital ptosis?
Symptoms include drooping upper eyelid, reduced vision, difficulty opening eyes, abnormal eye movements, asymmetrical eyes, and head tilting to compensate.
How is ZFHX4 Gene Ptosis diagnosed?
Diagnosis involves a comprehensive eye examination, medical history review, and genetic testing using Next-Generation Sequencing (NGS) to identify ZFHX4 gene mutations.
What is the cost of the NGS genetic test in India?
The cost ranges from INR 20,000 to INR 30,000. At DNA Labs India, it is available at a discounted price of INR 20,000 with free home collection.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across India in numerous cities.
How long does it take to receive the test results?
Reports are typically delivered within 3 to 4 weeks via online portal, email, or WhatsApp.
Do I need to fast before the test?
No, fasting is not required for this genetic test. Sample collection can be done at any time.
Who should consider getting tested for ZFHX4 Gene Ptosis?
Individuals with congenital ptosis symptoms, especially from birth, or those with a family history of the condition should consider testing.
What does a positive test result mean?
A positive result confirms a pathogenic mutation in the ZFHX4 gene, indicating a genetic basis for congenital ptosis, which can guide treatment and family planning.
Are there any risks associated with the genetic test?
Risks are minimal, including slight pain from blood draw and rare infection risk. Psychological impacts of results should be considered.
Is genetic counseling recommended before testing?
Yes, genetic counseling is highly recommended before and after testing to understand implications, draw pedigree charts, and provide support.
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

Angelman Syndrome Test

₹10,000

Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

₹14,000

Episodic Ataxia Type 1 Hotspot Test

₹11,500

Episodic Ataxia Comprehensive Profile Hotspot Test

₹16,000

Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test

₹7,500

Analyzer 18 SMA 18 Test Panel

₹1,755
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.