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TBC1D24 Gene DOOR syndrome NGS Genetic Test

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TBC1D24 Gene DOOR syndrome NGS Genetic Test

Short Name: TBC1D24 DOOR Syndrome NGS Test

Also known as: DOOR Syndrome, TBC1D24-related disorder

TBC1D24 Gene DOOR syndrome 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 this test is to diagnose DOOR syndrome by detecting pathogenic mutations in the TBC1D24 gene using Next-Generation Sequencing technology.

Test Code
2720
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 specific preparation required. Provide clinical history and pedigree chart.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications and draw a pedigree chart.
2
During the Test:Sample collection and processing in the laboratory using NGS technology.
3
After the Test:Receive report and consult with a genetic counselor or physician for interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose DOOR syndrome by detecting pathogenic mutations in the TBC1D24 gene using Next-Generation Sequencing technology.

How to Prepare

  • Fast for 8-10 hours if specified, but not required for this test
  • Bring identification and prescription
  • Inform about any medications

Doctor's Notes

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

"Early genetic diagnosis of DOOR syndrome is crucial for managing symptoms and providing genetic counseling to families."

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

Room temperature
Refrigerated
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Contaminated sample
  • Incorrect container

Understanding Your Results

Results indicate whether pathogenic mutations in the TBC1D24 gene are detected, which can confirm a diagnosis of DOOR syndrome.
📊

No pathogenic variants

Normal result, DOOR syndrome unlikely

📊

Pathogenic variant detected

Abnormal result, consistent with DOOR syndrome

⚠️ When to Consult a Doctor:

If you have symptoms of DOOR syndrome or a family history of the disorder, consult a geneticist or neurologist for evaluation and genetic testing.

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

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood sample

Compare With Similar Tests

TestTBC1D24 Gene DOOR syndrome NGS Genetic Test
ComparisonTBC1D24 Gene DOOR syndrome NGS Genetic Test

Frequently Asked Questions

What is DOOR syndrome?
DOOR syndrome is a rare genetic disorder that affects the nervous system, causing developmental delay, intellectual disability, seizures, and other symptoms.
What causes DOOR syndrome?
DOOR syndrome is caused by mutations in the TBC1D24 gene and is inherited in an autosomal recessive manner.
What are the symptoms of DOOR syndrome?
Common symptoms include developmental delay, intellectual disability, seizures, ataxia, hypotonia, hearing loss, and vision problems.
How is DOOR syndrome diagnosed?
Diagnosis is confirmed through genetic testing, such as Next-Generation Sequencing (NGS), to identify mutations in the TBC1D24 gene.
What is the TBC1D24 gene?
The TBC1D24 gene provides instructions for making a protein that helps regulate the activity of other proteins in nerve cells.
What is NGS genetic testing?
Next-Generation Sequencing (NGS) is a powerful technology that can analyze multiple genes simultaneously to detect genetic mutations.
How much does the TBC1D24 Gene DOOR Syndrome NGS Genetic Test cost?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available across India.
Is the test covered by insurance?
Genetic testing is not always covered by insurance. Patients should check with their insurance provider for coverage options.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in many cities across India.
What should I do before the test?
A genetic counseling session is recommended to draw a pedigree chart and discuss the test implications.
What do the results mean?
Results indicate whether pathogenic mutations in the TBC1D24 gene are detected. A positive result confirms DOOR syndrome, while a negative result makes it unlikely.
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

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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.

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