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CTC1 Gene Coat Plus Syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

CTC1 Gene Coat Plus Syndrome NGS Genetic Test

Short Name: CTC1 Coat Plus NGS Test

Also known as: CTC1 Gene Sequencing, Coat Plus Syndrome Genetic Test, CTC1 NGS Genetic Analysis

CTC1 Gene Coat Plus Syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing on Blood / Extracted DNA / Dried Blood on FTA Card samples. Results in Reports will be delivered within 3 to 4 weeks from the date of sample receipt at the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

This test is intended to detect mutations in the CTC1 gene and other genes associated with Coat plus syndrome. It uses NGS technology to identify pathogenic variants, which helps confirm the clinical diagnosis, guide treatment strategies, and facilitate genetic counselling for the patient and family.

Test Code
3804
Price
₹20,000
Sample Type
Blood / Extracted DNA / Dried Blood on FTA Card
Result Time
Reports will be delivered within 3 to 4 weeks from the date of sample receipt at the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing
Step 1

Sample Collection

Clinical history of the patient who is going for CTC1 Gene Coat plus syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CTC1 Gene Coat plus syndrome NGS Genetic Test gene CTC1 is recommended.

Method: Venipuncture or Dried Blood Spot (FTA Card)

Step 2

Laboratory Analysis

No specific measures are required. A routine blood draw or a dried blood spot on an FTA card is collected.

Step 3

Report Delivery

When a blood sample is taken, the puncture site may be bandaged. No special aftercare is needed.

Timeline: Reports will be delivered within 3 to 4 weeks from the date of sample receipt at the laboratory.

Patient Instructions

1
Before the Test:Clinical history of the patient is required. A genetic counselling session is recommended to draw a pedigree chart of family members affected with CTC1 gene-related disease.
2
During the Test:The test involves collecting a blood sample or dried blood spot on FTA card. The process is quick and routine.
3
After the Test:No special restrictions after sample collection. You can resume normal activities.

About This Test

Who Should Get This Test

This test is intended to detect mutations in the CTC1 gene and other genes associated with Coat plus syndrome. It uses NGS technology to identify pathogenic variants, which helps confirm the clinical diagnosis, guide treatment strategies, and facilitate genetic counselling for the patient and family.

How to Prepare

  • No fasting required.
  • Blood should be collected in an EDTA vacutainer or as one drop of blood on an FTA card.
  • If using FTA card, ensure the blood spot is thoroughly dry before storing.
  • The sample should be labelled with the patient's name and date of birth.

Doctor's Notes

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

"Coat plus syndrome is a rare genetic disorder that can be suspected during pregnancy or early childhood. Genetic testing for the CTC1 gene mutation is essential for confirming the diagnosis, planning care, and providing informed genetic counselling to the family."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood / Extracted DNA / Dried Blood on FTA Card
Collection MethodVenipuncture or Dried Blood Spot (FTA Card)

Sample Stability

EDTA blood: stable at room temperature for 72 hours
Dried blood spot on FTA card: stable for up to 3 months at room temperature
Sample Rejection Criteria:
  • Improperly labelled samples
  • Blood sample collected in a non-approved tube
  • Clotted or hemolyzed blood sample
  • Samples without clinical history or requisition form

Understanding Your Results

Genetic test results should be interpreted by a qualified clinical geneticist. The report describes whether a pathogenic mutation was detected and the clinical significance of the finding.
📊

Negative result. No disease-causing mutation was identified in the CTC1 gene or the associated panel genes. This does not completely rule out a genetic cause.

📊

Positive result. A disease-causing mutation was identified. This confirms the genetic diagnosis and helps guide management.

📊

A variant was found that is not yet classified as pathogenic or benign. Additional testing or family studies may be needed.

⚠️ When to Consult a Doctor:

If you or your child experience symptoms suggestive of Coat plus syndrome (such as short stature, nail/skin abnormalities, hearing loss, anemia, or recurrent infections) or have a family history of telomere disorders, please consult a clinical geneticist or genetic counsellor.

Limitations

  • The test detects mutations in the CTC1 gene and a defined set of associated genes; it does not rule out mutations in other genes.
  • Variants of unknown significance may be reported and require further analysis.
  • Results should be interpreted in the context of clinical findings and family history.

Risks & Considerations

  • There is very low risk associated with a blood draw. Minor bruising or discomfort at the puncture site may occur.

Interfering Factors

  • Improper sample collection or handling can affect test quality.
  • Contamination of the sample with other biological material may interfere with sequencing.

Frequently Asked Questions

What is the CTC1 gene?
The CTC1 gene provides instructions for making a protein that helps protect the ends of chromosomes, called telomeres. Mutations in this gene are associated with Coat plus syndrome.
What is Coat plus syndrome?
Coat plus syndrome is a rare genetic disorder that affects multiple body systems. It is caused by mutations in the CTC1 gene, leading to telomere shortening and symptoms such as short stature, skin problems, anemia, hearing loss, and immune dysfunction.
What does the CTC1 Gene Coat Plus Syndrome NGS Genetic Test detect?
This test uses next-generation sequencing to detect mutations in the CTC1 gene and other genes associated with Coat plus syndrome. It helps confirm the diagnosis when symptoms are present.
What is the cost of the CTC1 Gene Coat Plus Syndrome NGS Genetic Test?
The test costs INR 20,000 at DNA Labs India. The price includes free home sample collection in selected cities.
What sample type is required for this test?
You may provide a blood sample, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long will it take to receive the test report?
Reports are typically available within 3 to 4 weeks from the time the sample reaches the laboratory.
Are there any risks associated with the test?
The test is low-risk. If blood is drawn, you may experience minor bruising or pain at the needle site.
Why is genetic counselling recommended?
Genetic counselling helps interpret the test results, explains the inheritance pattern, and provides information for family planning and management.
Can this test be used for prenatal diagnosis?
This test is intended for individuals experiencing symptoms. Prenatal genetic testing may be considered after consultation with a clinical geneticist and an obstetrician.
What do the results indicate?
Results may be negative (no pathogenic variant), positive (pathogenic variant found), or a variant of uncertain significance. A clinical geneticist should interpret the results.
Does insurance cover this genetic test?
Coverage varies by insurance provider. Please check with your insurance company. DNA Labs India offers a special price of Rs 20000 for this test.
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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Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

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