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EFNB1 Gene Craniofrontonasal syndrome NGS Genetic Test

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EFNB1 Gene Craniofrontonasal syndrome NGS Genetic Test

Short Name: EFNB1 Craniofrontonasal Syndrome Test

Also known as: Craniofrontonasal Syndrome, CFNS

EFNB1 Gene Craniofrontonasal syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next Generation Sequencing) 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.

PediatricsAll 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 EFNB1 Gene Craniofrontonasal Syndrome NGS Genetic Test is to detect mutations in the EFNB1 gene that cause craniofrontonasal syndrome. This test aids in confirming diagnosis, guiding treatment decisions, and facilitating genetic counseling for affected individuals and their families.

Test Code
2702
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 (Next Generation Sequencing)
Step 1

Sample Collection

Genetic counseling is recommended prior to testing. Provide clinical history and family pedigree information.

Method: Blood Draw

Step 2

Laboratory Analysis

A blood sample is collected via venipuncture. For FTA card, a single drop of blood is applied.

Step 3

Report Delivery

The sample is labeled and transported to the laboratory under appropriate conditions for DNA extraction and analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Undergo genetic counseling and provide detailed clinical and family history.
2
During the Test:Blood sample collection is a simple procedure with minimal discomfort.
3
After the Test:Wait for the report, which will be delivered in 3-4 weeks, and follow up with your physician for result discussion.

About This Test

Who Should Get This Test

The purpose of the EFNB1 Gene Craniofrontonasal Syndrome NGS Genetic Test is to detect mutations in the EFNB1 gene that cause craniofrontonasal syndrome. This test aids in confirming diagnosis, guiding treatment decisions, and facilitating genetic counseling for affected individuals and their families.

How to Prepare

  • No fasting required unless specified by physician
  • Bring valid identification and doctor's prescription
  • Ensure proper labeling of sample tubes

Doctor's Notes

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

"Genetic testing for EFNB1 gene mutations is crucial for confirming craniofrontonasal syndrome, enabling personalized management and genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples: Stable for 48 hours at room temperature
Extracted DNA: Stable for years if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improper labeling or documentation

Understanding Your Results

Results from the EFNB1 Gene Craniofrontonasal Syndrome NGS Genetic Test should be interpreted by a qualified geneticist or healthcare provider. Positive results indicate the presence of mutations in the EFNB1 gene, confirming the diagnosis of craniofrontonasal syndrome.
Positive Result: Pathogenic variant detected, consistent with craniofrontonasal syndrome. Further clinical evaluation and management are advised.
Negative Result: No pathogenic variants detected. Consider other genetic or non-genetic causes if symptoms persist.
Variant of Uncertain Significance (VUS): A genetic change with unknown clinical significance. Repeat testing or family studies may be recommended.
⚠️ When to Consult a Doctor:

Consult a doctor if you or your child exhibit symptoms such as abnormal head shape, facial abnormalities, or developmental delays suggestive of craniofrontonasal syndrome.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or duplications
  • ⚠Results require clinical correlation for accurate interpretation

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Rare risk of infection

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality

Frequently Asked Questions

What is craniofrontonasal syndrome?
Craniofrontonasal syndrome is a rare genetic disorder caused by mutations in the EFNB1 gene, leading to abnormalities in the head, face, and other body structures.
What are the common symptoms of craniofrontonasal syndrome?
Symptoms include abnormal head shape, wide-set or close-set eyes, low-set ears, nasal and mouth abnormalities, joint problems, and sometimes intellectual disability.
How is craniofrontonasal syndrome diagnosed?
Diagnosis involves physical examination, family history assessment, and genetic testing such as the EFNB1 Gene NGS Genetic Test to confirm mutations.
What is the EFNB1 Gene Craniofrontonasal Syndrome NGS Genetic Test?
It is a Next Generation Sequencing test that analyzes the EFNB1 gene to identify mutations causing craniofrontonasal syndrome.
What is the cost of this genetic test in India?
The cost is INR 20000.0, with free home sample collection available across India.
What sample types are accepted for this test?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted sample types.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get the test results?
Results are typically available in 3 to 4 weeks after sample collection.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across numerous cities in India.
What should I do if the test result is positive?
A positive result confirms craniofrontonasal syndrome. Consult your doctor for management options and genetic counseling.
Can this test be used for prenatal diagnosis?
This test is typically for postnatal diagnosis. For prenatal testing, consult a genetic specialist for appropriate options.
Is genetic counseling recommended before testing?
Yes, genetic counseling is advised to understand the test implications, interpret results, and discuss family planning.
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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