Skip to main content
DNA Labs India

TPM2 Gene Arthrogryposis, distal, type 1A NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

TPM2 Gene Arthrogryposis, distal, type 1A NGS Genetic Test

Short Name: TPM2 Gene Arthrogryposis Distal Type 1A Test

Also known as: Distal Arthrogryposis Type 1A, DA1A, TPM2-related Arthrogryposis

TPM2 Gene Arthrogryposis, distal, type 1A 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.

NGS Genetic Test🏠 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 detect mutations in the TPM2 gene that cause Arthrogryposis, distal, type 1A, aiding in diagnosis, genetic counseling, and management planning.

Test Code
4844
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

Provide clinical history and family pedigree as per pre-test information.

Method: Venipuncture or Saliva Collection

Step 2

Laboratory Analysis

Blood draw or saliva sample collection performed by trained personnel.

Step 3

Report Delivery

Sample is sent to the laboratory for genetic analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and family pedigree as per pre-test information.
2
During the Test:Blood draw or saliva sample collection performed by trained personnel.
3
After the Test:Sample is sent to the laboratory for genetic analysis.

About This Test

Who Should Get This Test

To detect mutations in the TPM2 gene that cause Arthrogryposis, distal, type 1A, aiding in diagnosis, genetic counseling, and management planning.

How to Prepare

  • No special preparation needed
  • Provide accurate clinical history
  • Bring prescription if available

Doctor's Notes

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

"This test is crucial for confirming diagnosis in suspected cases and guiding genetic counseling for families with a history of arthrogryposis."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods under proper storage
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Incorrect labeling
  • Contaminated sample

Understanding Your Results

Results indicate the presence or absence of mutations in the TPM2 gene associated with Arthrogryposis, distal, type 1A.
Normal: No pathogenic variants detected
Abnormal: Pathogenic variant detected, indicating diagnosis
Variant of uncertain significance: Further testing or family studies recommended
⚠️ When to Consult a Doctor:

If symptoms persist or worsen, for family planning advice, or if genetic counseling is needed.

Limitations

  • ⚠May not detect all possible mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Not a screening test for general population

Risks & Considerations

  • ●Bruising at blood draw site
  • ●Infection risk (rare)
  • ●Psychological impact of results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Technical errors in sequencing

Compare With Similar Tests

TestTPM2 Gene Arthrogryposis, distal, type 1A NGS Genetic Test
ComparisonTPM2 Gene Arthrogryposis, distal, type 1A NGS Genetic Test

Frequently Asked Questions

What is Arthrogryposis, distal, type 1A?
It is a rare genetic disorder causing stiffness and limited movement in hands and feet due to TPM2 gene mutations.
What causes this condition?
Mutations in the TPM2 gene, which is involved in muscle contraction.
How is the TPM2 gene test performed?
Using Next-Generation Sequencing (NGS) on a blood or saliva sample.
What is the cost of the test?
INR 20000, with free home sample collection available across India.
Is home collection available?
Yes, free home sample collection is offered for online bookings.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What if the test is positive?
Genetic counseling is recommended to understand implications and management options.
Is there a cure for this condition?
No cure exists, but treatments can manage symptoms and improve quality of life.
What are the treatment options?
Physical therapy, occupational therapy, orthopedic devices, surgery, and pain management.
Who should get tested?
Individuals with symptoms like stiffness, contractures, or family history of arthrogryposis.
Is genetic counseling recommended?
Yes, to help understand results and make informed decisions.
How accurate is the test?
NGS is highly accurate for detecting mutations, but interpretation requires expert genetic counseling.
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.

Related Tests

WISP3 Gene Arthropathy, progressive pseudorheumatoid, of childhood NGS Genetic Test

₹20,000

FLNB Gene Atelosteogenesis type 3 NGS Genetic Test

₹20,000

FLNB Gene Atelosteogenesis type 1 NGS Genetic Test

₹20,000

EBP Gene Chondrodysplasia punctata, X-linked dominant NGS Genetic Test

₹20,000

COL11A1 Gene Marshall syndrome NGS Genetic Test

₹20,000

ACTN3 (Sports Gene) Genotyping Test

₹7,000
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.