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TMCO1 Gene Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome NGS Genetic Test

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TMCO1 Gene Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome NGS Genetic Test

Short Name: TMCO1 Gene CSMR NGS Genetic Test

Also known as: CSMR Syndrome, TMCO1-related disorder

TMCO1 Gene Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 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 3-4 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 3, 2026

Overview

The purpose of this test is to detect pathogenic mutations in the TMCO1 gene to confirm a diagnosis of CSMR syndrome, aid in genetic counseling, and inform management strategies for affected individuals.

Test Code
4872
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Clinical history review and genetic counseling session to draw a pedigree chart of affected family members.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or finger prick; minimal discomfort expected.

Step 3

Report Delivery

Apply pressure to puncture site; monitor for bruising or infection.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:Sample collection procedure as per standard protocols.
3
After the Test:Results delivered in 3-4 weeks; follow-up with healthcare provider advised.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic mutations in the TMCO1 gene to confirm a diagnosis of CSMR syndrome, aid in genetic counseling, and inform management strategies for affected individuals.

How to Prepare

  • Provide detailed clinical history
  • Attend genetic counseling session
  • Ensure sample is properly labeled and transported

Doctor's Notes

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

"This test is crucial for diagnosing CSMR syndrome, guiding management, and providing genetic counseling for affected families."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per requirement
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improper labeling or storage

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the TMCO1 gene. Consult a geneticist for detailed interpretation.
📊

No pathogenic variants

Negative for CSMR syndrome; clinical correlation recommended

📊

Pathogenic variants detected

Positive for CSMR syndrome; genetic counseling and management advised

⚠️ When to Consult a Doctor:

Consult a doctor if symptoms of CSMR are present, after receiving test results, or for genetic counseling and family planning.

Limitations

  • ⚠May not detect all types of genetic variants
  • ⚠Results require clinical correlation
  • ⚠Cannot predict disease severity or progression

Risks & Considerations

  • ●Bruising at puncture site
  • ●Infection risk (minimal)
  • ●Psychological impact of results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood sample

Frequently Asked Questions

What is the TMCO1 Gene CSMR NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to identify mutations in the TMCO1 gene associated with CSMR syndrome.
What are the symptoms of CSMR syndrome?
Symptoms include abnormal facial features, small head size, abnormal skull shape, delayed development, intellectual disability, behavioral problems, seizures, and abnormal bone growth.
How is the test performed?
The test analyzes DNA from a blood sample or extracted DNA using NGS technology to detect TMCO1 gene mutations.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card is required.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample receipt.
What is the cost of the test?
The test costs INR 20000, with free home sample collection available across India.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings in numerous cities across India.
What should I do before getting tested?
Provide clinical history and attend a genetic counseling session to draw a family pedigree chart.
How accurate is the NGS genetic test?
NGS is highly accurate for detecting genetic variants, but results should be correlated with clinical findings.
What do the results mean?
Results indicate the presence or absence of pathogenic TMCO1 variants; consult a geneticist for interpretation.
Can this test be used for prenatal diagnosis?
This test is typically for postnatal diagnosis; consult a healthcare provider for prenatal options.
Where can I get this test done?
The test is available at DNA Labs India with services across major cities in India.
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.

LIMS Integration

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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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