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DNA Labs India

TTC21B Gene Short-rib thoracic dysplasia type 4 with or without polydactyly NGS Genetic Test

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TTC21B Gene Short-rib thoracic dysplasia type 4 with or without polydactyly NGS Genetic Test

Short Name: SRTD4 NGS Test

Also known as: SRTD4, Short-rib thoracic dysplasia type 4, TTC21B-related skeletal dysplasia

TTC21B Gene Short-rib thoracic dysplasia type 4 with or without polydactyly 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

✍️ 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 the TTC21B Gene SRTD4 NGS Genetic Test is to identify mutations in the TTC21B gene that cause Short-rib thoracic dysplasia type 4, enabling definitive diagnosis, personalized treatment planning, and genetic counseling for affected individuals and their families.

Test Code
2815
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

A detailed clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with TTC21B gene-related disorders are required prior to sample collection.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard venipuncture procedure to collect blood sample, or collection of one drop of blood on an FTA card, performed by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store the sample as per instructions and transport to the laboratory promptly.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are mandatory before sample collection.
2
During the Test:Sample collection via venipuncture or FTA card, processed using NGS technology.
3
After the Test:Results are delivered in 3 to 4 weeks via online portal, email, or WhatsApp, with genetic counseling support available.

About This Test

Who Should Get This Test

The purpose of the TTC21B Gene SRTD4 NGS Genetic Test is to identify mutations in the TTC21B gene that cause Short-rib thoracic dysplasia type 4, enabling definitive diagnosis, personalized treatment planning, and genetic counseling for affected individuals and their families.

How to Prepare

  • Ensure patient identification and labeling of samples
  • Use sterile collection tubes or FTA cards
  • Avoid hemolysis by gentle mixing of blood samples
  • Maintain ambient room temperature during transport
  • Provide clinical history and consent forms with the sample

Doctor's Notes

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

"Early genetic testing for SRTD4 via TTC21B gene analysis is crucial for accurate diagnosis, management, and informed family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood samples stable for 48 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 without accompanying clinical information

Understanding Your Results

Results from the TTC21B Gene SRTD4 NGS Genetic Test should be interpreted by a qualified geneticist or healthcare provider in the context of clinical findings and family history.
Positive result: Identification of pathogenic TTC21B mutations confirms SRTD4 diagnosis, guiding management and genetic counseling.
Negative result: No pathogenic variants detected; clinical correlation is advised, and further testing may be considered.
Variant of uncertain significance (VUS): Requires additional family studies or functional analysis for clarification.
Report includes detailed mutation analysis and recommendations for follow-up.
⚠️ When to Consult a Doctor:

Consult a doctor or genetic specialist immediately after receiving test results for proper interpretation, management planning, and to discuss implications for family members.

Limitations

  • ⚠May not detect all possible genetic variants or mutations
  • ⚠Results require interpretation by a genetic specialist
  • ⚠Does not replace clinical evaluation and imaging studies
  • ⚠Limited to known mutations in the TTC21B gene and related genes

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Rare risk of infection at the puncture site
  • ●Emotional impact of genetic test results

Interfering Factors

  • ●Degraded or insufficient DNA sample quality
  • ●Sample contamination during collection or transport
  • ●Presence of hemolyzed blood samples
  • ●Recent blood transfusions may affect results

Frequently Asked Questions

What is Short-rib thoracic dysplasia type 4 (SRTD4)?
SRTD4 is a rare genetic disorder caused by mutations in the TTC21B gene, leading to skeletal abnormalities such as short ribs, narrow chest, and polydactyly.
What causes SRTD4?
SRTD4 is caused by pathogenic mutations in the TTC21B gene, which is involved in cilia function and bone development.
How is SRTD4 diagnosed?
Diagnosis involves prenatal ultrasound, physical examination, and confirmed via genetic testing like the TTC21B Gene NGS test.
What does the NGS genetic test for SRTD4 involve?
The test uses Next Generation Sequencing to analyze the TTC21B gene and related genes for mutations, using a blood or DNA sample.
What is the cost of the TTC21B Gene SRTD4 NGS test in India?
The test costs INR 20,000, with free home sample collection available across India.
Is home sample collection available for this test?
Yes, free home sample collection is offered in numerous cities across India for online bookings.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What are the risks associated with this genetic test?
Risks are minimal, including minor bruising from blood draw and emotional impact of results; genetic counseling is provided.
Can this test be done during pregnancy?
Yes, prenatal testing may be possible through chorionic villus sampling or amniocentesis, but consult a genetic specialist.
What if the test result is positive for SRTD4?
A positive result confirms the diagnosis, allowing for tailored management, supportive care, and genetic counseling for family planning.
Is genetic counseling required before and after the test?
Yes, genetic counseling is recommended to understand the test implications, interpret results, and discuss family risks.
What other tests are related to SRTD4 diagnosis?
Related tests include other SRTD gene tests, skeletal dysplasia panels, whole exome sequencing, and prenatal genetic testing.
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

Your Data Privacy

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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