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DNA Labs India

PTH1R Gene Chondrodysplasia, Blomstrand type NGS Genetic Test

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PTH1R Gene Chondrodysplasia, Blomstrand type NGS Genetic Test

Short Name: PTH1R Chondrodysplasia Test

Also known as: Blomstrand Chondrodysplasia, PTH1R-Related Skeletal Dysplasia

PTH1R Gene Chondrodysplasia, Blomstrand type 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.

Genetic TestPediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to confirm the diagnosis of Blomstrand type chondrodysplasia by detecting pathogenic mutations in the PTH1R gene, enabling targeted medical management and genetic counseling for affected individuals and families.

Test Code
5715
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 family pedigree.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture or using FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session recommended to understand implications.
2
During the Test:Sample collection and DNA analysis performed in the lab.
3
After the Test:Report delivered with interpretation; follow-up counseling available.

About This Test

Who Should Get This Test

The purpose of this test is to confirm the diagnosis of Blomstrand type chondrodysplasia by detecting pathogenic mutations in the PTH1R gene, enabling targeted medical management and genetic counseling for affected individuals and families.

How to Prepare

  • Ensure proper identification
  • Use sterile equipment
  • Label samples correctly

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic testing for PTH1R mutations is essential for accurate diagnosis and management of Blomstrand type chondrodysplasia, aiding in genetic counseling and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card

Sample Stability

Blood samples stable at room temperature for 24 hours
FTA cards stable for longer periods
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient volume
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of mutations in the PTH1R gene associated with Blomstrand type chondrodysplasia.
Positive result: Mutation detected, confirm diagnosis
Negative result: No mutation, consider other causes
Variant of uncertain significance: Further testing needed
⚠️ When to Consult a Doctor:

Consult a geneticist or pediatrician if symptoms are present or if there is a family history of the disorder.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Not a prenatal diagnostic test unless specified

Risks & Considerations

  • ●Minimal risk from blood draw
  • ●Possible bruising or infection at puncture site

Interfering Factors

  • ●Poor sample quality
  • ●Contamination during DNA extraction
  • ●Technical errors in sequencing

Compare With Similar Tests

TestPTH1R Gene Chondrodysplasia, Blomstrand type NGS Genetic TestFGFR3 Gene TestCOL2A1 Gene TestSkeletal Dysplasia PanelWhole Exome Sequencing
ComparisonPTH1R Gene Chondrodysplasia, Blomstrand type NGS Genetic Test

Frequently Asked Questions

What is PTH1R Gene Chondrodysplasia, Blomstrand type?
It is a rare genetic disorder caused by mutations in the PTH1R gene, leading to abnormal bone growth and development.
What are the common symptoms of this disorder?
Symptoms include short stature, bowed legs and arms, narrow chest, underdeveloped lungs, joint pain, and delayed motor development.
How is the disorder diagnosed?
Diagnosis involves clinical evaluation, imaging studies, and genetic testing to identify mutations in the PTH1R gene.
What is the cost of the NGS genetic test at DNA Labs India?
The test costs INR 20,000, which includes sample collection, analysis, and report.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across India for online bookings.
What does a positive test result mean?
A positive result indicates a mutation in the PTH1R gene, confirming the diagnosis of Blomstrand type chondrodysplasia.
Can this test be used for prenatal diagnosis?
This test is primarily for postnatal diagnosis; consult a genetic counselor for prenatal options.
Is genetic counseling included with the test?
Yes, a genetic counseling session is recommended and may be included to discuss results and implications.
What are the risks associated with the test?
Risks are minimal, such as slight bruising from blood draw, but serious complications are rare.
How can I book the PTH1R Gene Chondrodysplasia test?
You can book online through DNA Labs India's website or contact them via phone or WhatsApp for assistance.
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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