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TBCE Gene Hypoparathyroidism-retardation-dysmorphism syndrome NGS Genetic Test

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TBCE Gene Hypoparathyroidism-retardation-dysmorphism syndrome NGS Genetic Test

Also known as: HDR syndrome

TBCE Gene Hypoparathyroidism-retardation-dysmorphism 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.

Next Generation Sequencing (NGS)🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose Hypoparathyroidism-Retardation-Dysmorphism Syndrome (HDR syndrome) by identifying pathogenic mutations in the TBCE gene using NGS technology.

Test Code
2591
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

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with HDR syndrome.

Step 2

Laboratory Analysis

Your sample is analyzed using Next Generation Sequencing (NGS) in our laboratory.

Step 3

Report Delivery

A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with HDR syndrome.

About This Test

Who Should Get This Test

To diagnose Hypoparathyroidism-Retardation-Dysmorphism Syndrome (HDR syndrome) by identifying pathogenic mutations in the TBCE gene using NGS technology.

How to Prepare

  • Blood sample: Collect in EDTA tube
  • DNA sample: Extract and store properly
  • FTA card: Use one drop of blood as per instructions

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

Understanding Your Results

Results indicate the presence or absence of mutations in the TBCE gene associated with HDR syndrome.
Positive result: Pathogenic variant detected, confirming HDR syndrome diagnosis
Negative result: No pathogenic variants detected, but clinical correlation is advised
Variant of uncertain significance: Further testing or family studies may be recommended
⚠️ When to Consult a Doctor:

When symptoms such as hypoparathyroidism, intellectual disability, dysmorphic features, seizures, or renal anomalies are present, or for genetic counseling if there is a family history.

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site

Frequently Asked Questions

What is the TBCE Gene HDR Syndrome NGS Genetic Test?
It is a genetic test that uses Next Generation Sequencing to detect mutations in the TBCE gene, which causes Hypoparathyroidism-Retardation-Dysmorphism Syndrome (HDR syndrome).
How is the test performed?
The test is performed using a blood or saliva sample, and DNA is analyzed via NGS technology to identify mutations in the TBCE gene.
What is the cost of the test?
The cost is INR 20,000, which includes home sample collection across India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test 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 HDR syndrome?
Symptoms include hypoparathyroidism, intellectual disability, dysmorphic features, short stature, epilepsy, and renal anomalies.
Who should get this test?
Individuals with symptoms of HDR syndrome, a family history of the disorder, or those requiring genetic counseling.
Is the test accurate?
Yes, NGS technology provides high accuracy for detecting mutations in the TBCE gene.
What does a positive result mean?
A positive result indicates the presence of a pathogenic mutation in the TBCE gene, confirming HDR syndrome diagnosis.
Can the test be used for prenatal diagnosis?
Consult a genetic counselor for prenatal testing options, as this test may be applicable in certain cases.
Are there any risks associated with the test?
Risks are minimal, such as minor bruising from blood draw.
How can I prepare for the test?
Provide clinical history and undergo genetic counseling; no fasting is required.
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.

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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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