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TMEM38B Gene Osteogenesis imperfecta type 14 NGS Genetic Test

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TMEM38B Gene Osteogenesis imperfecta type 14 NGS Genetic Test

Short Name: TMEM38B OI Type 14 NGS Test

Also known as: OI Type 14, TMEM38B-related OI

TMEM38B Gene Osteogenesis imperfecta type 14 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 SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To diagnose Osteogenesis Imperfecta Type 14 caused by TMEM38B gene mutations, enabling accurate management and genetic counseling.

Test Code
5091
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 and genetic counseling recommended.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard blood draw procedure using sterile equipment.

Step 3

Report Delivery

Sample sent to laboratory for analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and informed consent required.
2
During the Test:Blood sample collection via venipuncture.
3
After the Test:Wait for report and follow-up with physician for interpretation.

About This Test

Who Should Get This Test

To diagnose Osteogenesis Imperfecta Type 14 caused by TMEM38B gene mutations, enabling accurate management and genetic counseling.

How to Prepare

  • Fasting not required
  • Use sterile collection tubes
  • Label samples correctly

Doctor's Notes

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

"Genetic testing for OI type 14 is crucial for accurate diagnosis and management. Consult a genetic counselor for family planning and treatment options."

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
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 48 hours at room temperature
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the TMEM38B gene.
📊

Positive

Pathogenic variant detected, confirming OI Type 14 diagnosis.

📊

Negative

No pathogenic variant detected, consider other genetic or clinical causes.

⚠️ When to Consult a Doctor:

If symptoms of OI are present, family history of genetic disorders, or for prenatal planning.

Limitations

  • ⚠May not detect all mutations
  • ⚠Requires genetic counseling for interpretation

Risks & Considerations

  • ●Minimal risk from blood draw
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA

Compare With Similar Tests

TestTMEM38B Gene Osteogenesis imperfecta type 14 NGS Genetic TestCOL1A1 Gene TestCOL1A2 Gene Test
ComparisonTMEM38B Gene Osteogenesis imperfecta type 14 NGS Genetic Test

Frequently Asked Questions

What is TMEM38B Gene OI Type 14?
It is a rare form of Osteogenesis Imperfecta caused by mutations in the TMEM38B gene, leading to brittle bones.
What are the symptoms of OI Type 14?
Symptoms include frequent fractures, short stature, bowed limbs, scoliosis, loose joints, blue sclera, and dental problems.
How is OI Type 14 diagnosed?
Diagnosis involves clinical evaluation, medical history, and genetic testing such as NGS for TMEM38B gene mutations.
What is the cost of the NGS genetic test?
The test costs INR 20000.0 at DNA Labs India, with home collection available.
Is the test covered by insurance?
Genetic testing may not be covered by insurance; check with your provider for details.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card is required.
Is home collection available?
Yes, free home sample collection is available for online bookings across India.
What should I do before the test?
Provide clinical history and undergo genetic counseling to draw a pedigree chart.
How accurate is the NGS test?
NGS is highly accurate for detecting gene mutations, but interpretation requires genetic counseling.
Can this test be used for prenatal diagnosis?
Consult a genetic counselor for prenatal testing options, as this test is typically for postnatal diagnosis.
What are the treatment options for OI Type 14?
Treatment focuses on managing symptoms, such as physical therapy, medications, and surgical interventions for fractures.
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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