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CRTAP Gene Osteogenesis imperfecta type 7 NGS Genetic Test

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CRTAP Gene Osteogenesis imperfecta type 7 NGS Genetic Test

Short Name: CRTAP Gene OI Type 7 NGS Test

Also known as: OI Type 7 Genetic Test, CRTAP Mutation Analysis, Osteogenesis Imperfecta Type 7 DNA Test

CRTAP Gene Osteogenesis imperfecta type 7 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)All Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to detect mutations in the CRTAP gene to confirm a diagnosis of Osteogenesis Imperfecta Type 7, aid in clinical management, and provide information for genetic counseling and family planning.

Test Code
2459
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 OI are required. No fasting is needed, and samples should be collected at ambient room temperature.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample is collected via venipuncture, or DNA is extracted from provided samples. One drop of blood on an FTA card is also acceptable.

Step 3

Report Delivery

Sample is processed and sent for NGS analysis. Patients can resume normal activities immediately after blood draw.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are essential before testing.
2
During the Test:Sample collection and processing for NGS analysis.
3
After the Test:Wait for report generation in 3-4 weeks; discuss results with healthcare provider.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the CRTAP gene to confirm a diagnosis of Osteogenesis Imperfecta Type 7, aid in clinical management, and provide information for genetic counseling and family planning.

How to Prepare

  • Provide detailed clinical history
  • Attend genetic counseling session
  • Ensure sample is collected in appropriate container
  • Label samples correctly with patient details

Doctor's Notes

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

"This test is essential for confirming OI Type 7, guiding treatment plans, and providing genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL for blood
ContainerEDTA tube for blood
Collection MethodVenipuncture

Sample Stability

Blood samples stable at room temperature for 24 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrect sample type
  • Missing patient information

Understanding Your Results

Results indicate the presence or absence of mutations in the CRTAP gene. A positive result confirms OI Type 7, while a negative result may require further testing if clinical suspicion remains.
📊

Pathogenic variant detected

Confirms diagnosis of OI Type 7; genetic counseling recommended

📊

Variant of uncertain significance

Further testing or family studies may be needed

📊

No pathogenic variant detected

OI Type 7 unlikely; consider other genetic or clinical causes

⚠️ When to Consult a Doctor:

If symptoms such as frequent fractures, bone deformities, or family history of OI are present, consult a geneticist or orthopedic specialist for evaluation and testing.

Limitations

  • May not detect all possible genetic variants
  • Results require clinical correlation
  • Does not rule out other types of OI
  • Turnaround time may vary based on lab workload

Risks & Considerations

  • Minor bruising or pain at blood draw site
  • Rare risk of infection
  • Emotional impact of genetic results

Interfering Factors

  • Poor sample quality or contamination
  • Hemolyzed blood samples
  • Insufficient DNA quantity
  • Technical errors in sequencing

Compare With Similar Tests

TestCRTAP Gene Osteogenesis imperfecta type 7 NGS Genetic TestCOL1A1 Gene OI Type 1 TestComprehensive OI Genetic PanelBone Density Scan (DEXA)Prenatal Genetic Testing for OI
ComparisonCRTAP Gene Osteogenesis imperfecta type 7 NGS Genetic Test

Frequently Asked Questions

What is Osteogenesis Imperfecta Type 7?
OI Type 7 is a genetic disorder caused by mutations in the CRTAP gene, leading to fragile bones and other symptoms.
How is the CRTAP Gene OI Type 7 NGS Test performed?
It uses Next-Generation Sequencing to analyze the CRTAP gene from a blood or DNA sample.
What is the cost of this test at DNA Labs India?
The test costs INR 20,000, with free home sample collection across India.
Who should consider this test?
Individuals with symptoms of OI, such as frequent fractures, or a family history of the disorder.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What does a positive result mean?
A positive result confirms a mutation in the CRTAP gene, indicating OI Type 7.
Can this test detect all types of OI?
No, it specifically targets OI Type 7; other tests may be needed for different types.
Is genetic counseling provided with the test?
Yes, a genetic counseling session is included to discuss results and implications.
Are there any risks associated with the test?
Risks are minimal, such as bruising from blood draw, but genetic results may have emotional impacts.
How can I book this test?
You can book online through DNA Labs India's website or contact them via phone or WhatsApp.
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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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 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.

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