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ALX3 Gene Frontonasal dysplasia type 1 NGS Genetic Test

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ALX3 Gene Frontonasal dysplasia type 1 NGS Genetic Test

Short Name: ALX3 FND1 NGS Test

Also known as: Frontonasal Dysplasia Syndrome 1, FND1

ALX3 Gene Frontonasal dysplasia type 1 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 SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of the ALX3 Gene Frontonasal Dysplasia Type 1 NGS Genetic Test is to identify mutations in the ALX3 gene associated with frontonasal dysplasia type 1. This test aids in diagnosing the disorder, understanding its genetic basis, predicting clinical outcomes, and guiding management strategies. It is valuable for genetic counseling, allowing families to make informed decisions about family planning and reproductive options.

Test Code
5749
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

No special preparation is required. Genetic counseling is recommended prior to testing.

Method: Venipuncture or Saliva Collection

Step 2

Laboratory Analysis

Sample is collected via venipuncture for blood or saliva collection kit. The process is minimally invasive.

Step 3

Report Delivery

Sample is labeled, stored appropriately, and sent to the laboratory for analysis. Follow instructions for sample handling.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling is recommended to understand the test implications, process, and potential outcomes. Provide clinical history and family pedigree.
2
During the Test:Sample collection is performed, followed by DNA extraction and NGS analysis in the laboratory. The process is automated and precise.
3
After the Test:Results are reviewed by geneticists, and a report is generated. Genetic counseling is advised to interpret results and plan next steps.

About This Test

Who Should Get This Test

The purpose of the ALX3 Gene Frontonasal Dysplasia Type 1 NGS Genetic Test is to identify mutations in the ALX3 gene associated with frontonasal dysplasia type 1. This test aids in diagnosing the disorder, understanding its genetic basis, predicting clinical outcomes, and guiding management strategies. It is valuable for genetic counseling, allowing families to make informed decisions about family planning and reproductive options.

How to Prepare

  • Ensure proper identification and labeling of the sample
  • Use sterile collection tubes or FTA cards as specified
  • Avoid contamination by following aseptic techniques
  • Store sample at ambient room temperature unless otherwise specified

Doctor's Notes

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

"This test is crucial for early diagnosis and management of frontonasal dysplasia type 1, aiding in genetic counseling and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerFTA Card or EDTA Tube
Collection MethodVenipuncture or Saliva Collection

Sample Stability

Blood sample stable for 24 hours at room temperature
Extracted DNA stable for longer periods if stored properly
FTA card samples stable for extended periods at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples
  • Samples not stored according to guidelines

Understanding Your Results

Results from the ALX3 Gene Frontonasal Dysplasia Type 1 NGS Genetic Test indicate the presence or absence of mutations in the ALX3 gene. Positive results confirm a genetic basis for frontonasal dysplasia type 1, while negative results suggest no pathogenic variants were detected. Genetic counseling is essential for understanding implications.
📊

Positive for pathogenic variant

Confirms diagnosis of frontonasal dysplasia type 1 due to ALX3 gene mutation. Genetic counseling recommended for management and family planning.

📊

Negative for pathogenic variant

No mutations detected in the ALX3 gene. Clinical correlation is advised as symptoms may be due to other genetic or environmental factors.

📊

Variant of uncertain significance (VUS)

A genetic variant was found, but its clinical significance is unknown. Further testing and family studies may be required.

⚠️ When to Consult a Doctor:

Consult a doctor if you or your child show symptoms of frontonasal dysplasia type 1, such as facial abnormalities, or if there is a family history of the condition. Genetic counseling is recommended before and after testing.

Limitations

  • ⚠May not detect all possible genetic variations or mutations
  • ⚠Results require interpretation by a genetic specialist
  • ⚠Does not replace clinical evaluation and diagnosis
  • ⚠Variant of uncertain significance (VUS) may be identified, requiring further analysis

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results, requiring counseling
  • ●Potential for uncertain results, leading to further testing

Interfering Factors

  • ●Sample contamination during collection or processing
  • ●Degraded DNA due to improper storage
  • ●Hemolyzed blood samples
  • ●Insufficient sample volume

Compare With Similar Tests

TestALX3 Gene Frontonasal dysplasia type 1 NGS Genetic TestWhole Exome SequencingChromosomal Microarray AnalysisKaryotypingOther Craniofacial Gene Panels
ComparisonALX3 Gene Frontonasal dysplasia type 1 NGS Genetic TestBroader analysis of all genes, but more expensive and time-consuming. ALX3 test is targeted and cost-effective for specific diagnosis.Detects chromosomal abnormalities, not specific gene mutations. ALX3 test is precise for ALX3 gene variants.Identifies chromosomal number and structure issues. Less sensitive for single gene disorders like frontonasal dysplasia type 1.May include multiple genes related to craniofacial disorders. ALX3 test is focused on the ALX3 gene for frontonasal dysplasia type 1.

Frequently Asked Questions

What is frontonasal dysplasia type 1?
Frontonasal dysplasia type 1 is a rare genetic disorder that affects facial development, causing abnormalities like a wide forehead, small nose, and widely spaced eyes. It is caused by mutations in the ALX3 gene.
What causes frontonasal dysplasia type 1?
It is caused by mutations in the ALX3 gene, which plays a critical role in facial and skull formation during embryonic development.
What are the symptoms of frontonasal dysplasia type 1?
Symptoms include wide and prominent forehead, small or underdeveloped nose, widely spaced eyes, cleft palate or lip, and abnormalities in eye or head shape.
How is frontonasal dysplasia type 1 diagnosed?
Diagnosis is based on clinical appearance and confirmed with genetic testing, such as the ALX3 Gene NGS Genetic Test.
What is the ALX3 Gene Frontonasal Dysplasia Type 1 NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to identify mutations in the ALX3 gene associated with frontonasal dysplasia type 1.
How is the test performed?
A DNA sample is collected via blood or saliva, sequenced using NGS technology, and analyzed for mutations in the ALX3 gene.
What is the cost of the test?
The cost is INR 20000 in India, inclusive of sample collection and analysis.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is the test painful?
The test involves a simple blood draw or saliva collection, which is minimally invasive and generally painless.
Can the test be done at home?
Yes, free home sample collection is available for online bookings across many cities in India.
What should I do if the test is positive?
A positive result confirms a genetic mutation. Consult a genetic counselor or healthcare provider for management, genetic counseling, and family planning.
Is genetic counseling necessary?
Yes, genetic counseling is recommended before and after testing to understand implications, interpret results, and make informed decisions.
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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