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IFT122 Gene Cranioectodermal dysplasia type 1 NGS Genetic Test

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IFT122 Gene Cranioectodermal dysplasia type 1 NGS Genetic Test

Short Name: IFT122 Gene CED1 NGS Test

Also known as: Cranioectodermal dysplasia type 1

IFT122 Gene Cranioectodermal 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.

NGS Genetic TestPediatric🏠 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 this test is to identify mutations in the IFT122 gene that cause Cranioectodermal dysplasia type 1, enabling accurate diagnosis, informing treatment strategies, and facilitating genetic counseling for affected families.

Test Code
5734
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

Provide clinical history and pedigree chart as per genetic counseling session.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample will be collected by a trained phlebotomist using standard venipuncture techniques.

Step 3

Report Delivery

Sample will be processed and analyzed in the laboratory for IFT122 gene mutations.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications, draw a pedigree chart, and obtain informed consent.
2
During the Test:DNA extraction from the sample followed by next-generation sequencing to analyze the IFT122 gene.
3
After the Test:Results are reviewed by a geneticist, and genetic counseling is provided to interpret findings and guide next steps.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the IFT122 gene that cause Cranioectodermal dysplasia type 1, enabling accurate diagnosis, informing treatment strategies, and facilitating genetic counseling for affected families.

How to Prepare

  • Bring identification and prescription if available
  • Inform about any medications or health conditions
  • Follow any specific instructions from the genetic counselor

Doctor's Notes

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

"Early detection of IFT122 mutations through NGS testing is essential for timely intervention and management of Cranioectodermal dysplasia type 1."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeNot specified
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood samples stable for 48 hours at 2-8°C
Extracted DNA stable for longer periods when stored properly
Sample Rejection Criteria:
  • Hemolyzed or lipemic samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results indicate the presence or absence of mutations in the IFT122 gene associated with Cranioectodermal dysplasia type 1.
Positive: Pathogenic variant detected, confirming diagnosis of CED1
Negative: No pathogenic variant detected, but clinical correlation and further testing may be needed
Variant of uncertain significance: Requires additional family studies or functional analysis
⚠️ When to Consult a Doctor:

If symptoms of Cranioectodermal dysplasia type 1 are present or if there is a family history of the disorder, consult a geneticist or pediatric specialist.

Limitations

  • ⚠Test may not detect all types of mutations
  • ⚠Results should be interpreted in clinical context with genetic counseling
  • ⚠Does not rule out other genetic disorders

Risks & Considerations

  • ●Minimal risk associated with blood draw, such as bruising or infection
  • ●Potential psychological impact of test results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA

Compare With Similar Tests

TestIFT122 Gene Cranioectodermal dysplasia type 1 NGS Genetic TestWhole Exome SequencingSanger Sequencing
ComparisonIFT122 Gene Cranioectodermal dysplasia type 1 NGS Genetic Test

Frequently Asked Questions

What is the IFT122 Gene Cranioectodermal Dysplasia Type 1 NGS Genetic Test?
It is a next-generation sequencing test that analyzes the IFT122 gene to diagnose Cranioectodermal dysplasia type 1, a rare genetic disorder affecting bones, skin, and other tissues.
What are the symptoms of Cranioectodermal dysplasia type 1?
Symptoms include abnormalities in head and face shape, fingers and toes, bones of the spine and limbs, skin issues like dryness and scaling, delayed growth, and intellectual disability.
How is the test performed?
A blood or DNA sample is collected and analyzed using next-generation sequencing technology to detect mutations in the IFT122 gene.
What is the cost of the test?
The test costs INR 20,000, which includes DNA analysis and genetic counseling.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the IFT122 gene, confirming a diagnosis of Cranioectodermal dysplasia type 1.
What if the result is negative?
A negative result means no pathogenic variant was detected, but clinical correlation and further evaluation may be necessary if symptoms persist.
Is genetic counseling included in the test?
Yes, genetic counseling is included to help interpret results and provide guidance on management and family planning.
Can insurance cover the cost of the test?
Some insurance plans may cover genetic testing, but coverage varies. It is advisable to check with your insurance provider.
What are the limitations of the test?
The test may not detect all mutation types, and results should be interpreted in a clinical context. Genetic counseling is recommended for comprehensive understanding.
How accurate is the NGS test for IFT122 gene analysis?
NGS technology is highly accurate for detecting mutations in the IFT122 gene, but accuracy depends on sample quality and laboratory protocols.
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

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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.

✓ 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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