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DNA Labs India

IFT43 Gene Cranioectodermal dysplasia type 3 NGS Genetic Test

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IFT43 Gene Cranioectodermal dysplasia type 3 NGS Genetic Test

Also known as: CED Type 3 NGS Test, IFT43 Genetic Test

IFT43 Gene Cranioectodermal dysplasia type 3 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.

PediatricsPediatric🏠 Home Collection

🩺 Medically Reviewed By

Overview

To detect mutations in the IFT43 gene for diagnosis of Cranioectodermal dysplasia type 3 and to aid in genetic counseling and management.

Test Code
5736
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

No special preparation required. Provide clinical history and genetic counseling information.

Method: Blood draw or saliva sample

Step 2

Laboratory Analysis

Sample collected via blood draw or saliva collection as per standard procedures.

Step 3

Report Delivery

Apply pressure to the puncture site if blood is drawn. Store sample as instructed.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling session to draw a pedigree chart.
2
During the Test:Sample collection via blood or saliva as per instructions.
3
After the Test:Wait for results in 3 to 4 weeks. Discuss findings with a healthcare provider.

About This Test

Who Should Get This Test

To detect mutations in the IFT43 gene for diagnosis of Cranioectodermal dysplasia type 3 and to aid in genetic counseling and management.

How to Prepare

  • For blood sample: Use sterile technique and appropriate container.
  • For saliva sample: Follow kit instructions for collection.
  • Label sample correctly with patient details.

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 MethodBlood draw or saliva sample

Sample Stability

Blood sample: Stable for 24-48 hours at room temperature or refrigerated.
Extracted DNA: Stable for longer periods if stored properly.
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or hemolyzed sample
  • Incorrect labeling or missing information

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the IFT43 gene. A positive result confirms diagnosis, while a negative result may require further testing.
Pathogenic variant detected: Confirms Cranioectodermal dysplasia type 3. Genetic counseling recommended.
No pathogenic variant detected: Does not rule out other genetic causes. Clinical correlation advised.
Variant of uncertain significance: May require additional family studies or functional analysis.
⚠️ When to Consult a Doctor:

Consult a genetic counselor or healthcare provider if symptoms are present, family history exists, or for interpretation of results and management planning.

Limitations

  • May not detect all types of mutations or variants of uncertain significance
  • Results require interpretation by a qualified geneticist or healthcare provider

Risks & Considerations

  • Minor bruising or discomfort at blood draw site
  • Very low risk of infection
  • Psychological impact of genetic results

Frequently Asked Questions

What is IFT43 Gene Cranioectodermal Dysplasia Type 3 NGS Genetic Test?
It is a Next-Generation Sequencing test to identify mutations in the IFT43 gene, causing Cranioectodermal dysplasia type 3, a rare genetic disorder.
How is the test performed?
The test involves collecting a blood or saliva sample, extracting DNA, and sequencing the IFT43 gene using NGS technology.
What is the cost of the test in India?
The cost is INR 20,000, with free home sample collection available across India.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings in numerous cities across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What are the symptoms of Cranioectodermal dysplasia type 3?
Symptoms include distinctive facial features, skeletal abnormalities like short fingers and curved spine, and dental and skin problems.
Who should consider this test?
Individuals with symptoms of CED type 3, family history of the disorder, or those seeking genetic counseling for diagnosis or family planning.
Is the test accurate?
Yes, NGS Genetic Testing is highly accurate for identifying mutations in the IFT43 gene, but results should be interpreted by a genetic specialist.
What does a positive result mean?
A positive result confirms a diagnosis of Cranioectodermal dysplasia type 3 due to IFT43 gene mutations, aiding in management and genetic counseling.
Can the test be used for prenatal diagnosis?
Yes, it can be used for prenatal or preconception testing in high-risk families, but consultation with a genetic counselor is essential.
Are there any risks associated with the test?
Risks are minimal, such as minor bruising from blood draw, but genetic results may have psychological implications.
How can I book the test?
You can book the test online through DNA Labs India's website or contact them via phone or WhatsApp for assistance.
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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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.

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