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IFT80 Gene Short-rib thoracic dysplasia type 2 with or without polydactyly NGS Genetic Test

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IFT80 Gene Short-rib thoracic dysplasia type 2 with or without polydactyly NGS Genetic Test

Short Name: IFT80 SRTD2 NGS Test

Also known as: Short-rib thoracic dysplasia type 2, SRTD2, Polydactyly with short-rib thoracic dysplasia

IFT80 Gene Short-rib thoracic dysplasia type 2 with or without polydactyly 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

To diagnose Short-rib thoracic dysplasia type 2 with or without polydactyly by detecting mutations in the IFT80 gene using NGS technology, enabling accurate clinical management and genetic counseling.

Test Code
2819
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 required. Provide clinical history and pedigree chart if available.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or use of FTA card for one drop blood.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store sample as per instructions.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling session.
2
During the Test:Sample collection and NGS analysis performed in the laboratory.
3
After the Test:Receive report and discuss results with a healthcare provider.

About This Test

Who Should Get This Test

To diagnose Short-rib thoracic dysplasia type 2 with or without polydactyly by detecting mutations in the IFT80 gene using NGS technology, enabling accurate clinical management and genetic counseling.

How to Prepare

  • Ensure proper labeling of samples
  • Use sterile collection tubes
  • Transport samples at ambient temperature

Doctor's Notes

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

"This test is crucial for early diagnosis and management of SRTD2, aiding in genetic counseling and family planning for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Sample Rejection Criteria:
  • Hemolyzed samples
  • Incorrectly labeled samples
  • Insufficient sample volume

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the IFT80 gene associated with SRTD2.
📊

Negative

No pathogenic variants detected; clinical correlation recommended.

📊

Positive

Pathogenic variant(s) identified; confirms diagnosis of SRTD2.

⚠️ When to Consult a Doctor:

Consult a genetic specialist or pediatrician if symptoms of SRTD2 are present or if family history suggests risk.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection

Interfering Factors

  • ●Poor sample quality
  • ●Contamination during collection
  • ●Insufficient DNA quantity

Frequently Asked Questions

What is the IFT80 Gene SRTD2 NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to analyze the IFT80 gene for mutations causing Short-rib thoracic dysplasia type 2 with or without polydactyly.
What is the cost of the test in India?
The cost at DNA Labs India is INR 20,000, including home sample collection.
How is the test performed?
A blood or DNA sample is collected and analyzed using NGS technology to detect mutations in the IFT80 gene.
What sample is required for the test?
Blood, extracted DNA, or one drop blood on an FTA card.
Is fasting required before the test?
No, fasting is not required.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What does a positive result mean?
A positive result indicates pathogenic variants in the IFT80 gene, confirming a diagnosis of SRTD2.
Is genetic counseling recommended?
Yes, genetic counseling is recommended before and after testing to understand implications and family planning.
Can the test detect all mutations?
While NGS is comprehensive, it may not detect all types of mutations; clinical correlation is advised.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
What are the risks of the test?
Risks are minimal, primarily related to blood draw, such as bruising or infection.
How accurate is the NGS technology?
NGS is highly accurate for detecting genetic mutations, but results should be interpreted by a qualified geneticist.
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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✓ 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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