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ALX4 Gene Frontonasal dysplasia type 2 NGS Genetic Test

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ALX4 Gene Frontonasal dysplasia type 2 NGS Genetic Test

Short Name: ALX4 Frontonasal Dysplasia Type 2 NGS Test

Also known as: ALX4 gene test, Frontonasal dysplasia type 2 genetic test, ALX4 NGS test

ALX4 Gene Frontonasal dysplasia type 2 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 3 to 4 weeks. Free home collection in 300+ cities across India.

PediatricsPediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of this test is to detect pathogenic mutations in the ALX4 gene to confirm a diagnosis of frontonasal dysplasia type 2, understand the genetic basis of the condition, assess inheritance risks, and inform clinical management and genetic counseling.

Test Code
5748
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Ensure patient has provided clinical history and undergone genetic counseling. No fasting required.

Method: Venipuncture or finger-prick for FTA card

Step 2

Laboratory Analysis

Collect blood sample via venipuncture or use FTA card for one drop of blood. Follow standard phlebotomy procedures.

Step 3

Report Delivery

Label samples correctly and transport to the laboratory at ambient temperature. Inform patient about report timeline.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications and draw a family pedigree chart.
2
During the Test:Sample collection as per instructions; no special procedures required during testing.
3
After the Test:Wait for report delivery in 3-4 weeks; consult with genetic counselor for result interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic mutations in the ALX4 gene to confirm a diagnosis of frontonasal dysplasia type 2, understand the genetic basis of the condition, assess inheritance risks, and inform clinical management and genetic counseling.

How to Prepare

  • Use sterile equipment for sample collection
  • Avoid hemolysis by gentle handling of blood samples
  • For FTA card, allow blood to dry completely before packaging
  • Include completed requisition form with clinical details

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"This test is crucial for confirming diagnosis, understanding inheritance patterns, and guiding family planning and management decisions for frontonasal dysplasia type 2."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required for NGS analysis
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick for FTA card

Sample Stability

Blood sample: Stable for 48 hours at room temperature
Extracted DNA: Stable for longer periods if stored properly
FTA card: Stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Incorrect labeling or missing clinical information

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the ALX4 gene. A positive result confirms a genetic diagnosis, while a negative result may require further testing or clinical correlation.
Positive: Pathogenic variant detected – confirms diagnosis of frontonasal dysplasia type 2
Negative: No pathogenic variants detected – condition may be due to other genes or non-genetic factors
Variant of uncertain significance (VUS): Requires further evaluation and genetic counseling
⚠️ When to Consult a Doctor:

Consult a genetic specialist or pediatrician if symptoms of frontonasal dysplasia are present, for family planning advice, or to discuss test results and management options.

Limitations

  • ⚠May not detect all types of genetic variants, such as large deletions or duplications
  • ⚠Results require interpretation by a genetic counselor or specialist
  • ⚠Does not rule out other genetic conditions with similar symptoms

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results; counseling recommended

Interfering Factors

  • ●Sample contamination or degradation
  • ●Insufficient DNA quantity or quality
  • ●Hemolyzed or lipemic blood samples

Frequently Asked Questions

What is ALX4 Gene Frontonasal Dysplasia Type 2?
It is a genetic condition caused by mutations in the ALX4 gene, leading to abnormalities in facial and skull development, such as wide nose, hypertelorism, and cleft lip/palate.
What are the common symptoms of frontonasal dysplasia type 2?
Symptoms include a wide, short nose with a flat bridge, widely spaced eyes, cleft lip or palate, and skull or brain abnormalities. Severity varies among individuals.
How is the ALX4 Gene NGS Genetic Test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the ALX4 gene from a blood or DNA sample, identifying mutations associated with the condition.
What is the cost of this genetic test?
The test costs INR 20,000, which includes sample collection, analysis, and genetic counseling support.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
How long does it take to get the test results?
Results are typically delivered within 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result confirms a genetic diagnosis of frontonasal dysplasia type 2 due to ALX4 gene mutations, guiding management and family planning.
Is the test covered by insurance?
Coverage depends on your insurance plan; it is not universally covered. Check with your provider for details.
Can this test be done during pregnancy?
Prenatal testing may be possible through methods like amniocentesis, but consult a genetic counselor for specific options.
What is the inheritance pattern of frontonasal dysplasia type 2?
It is typically autosomal recessive, meaning both parents must carry a mutation for a child to be affected.
Are there any risks associated with the test?
Risks are minimal, mainly related to blood draw, such as bruising. Genetic counseling is recommended to address psychological aspects.
How should I prepare for the test?
No special preparation is needed. Provide clinical history and attend a genetic counseling session before sample collection.
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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