TMCO1 Gene Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome NGS Genetic Test
Short Name: TMCO1 NGS Genetic Test
Also known as: TMCO1-related syndrome, Craniofacial dysmorphism, skeletal anomalies and intellectual disability syndrome
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 Dried Blood Spot (FTA Card) samples. Results in Reports are delivered within 3 to 4 weeks from receipt of the sample. The exact timeline depends on sequencing completion and the need for confirmatory testing.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the TMCO1 gene NGS genetic test is to identify pathogenic or likely pathogenic variants in the TMCO1 gene that may explain the clinical features seen in a patient. A confirmed genetic diagnosis can help clinicians guide management, surveillance, family counselling and reproductive decisions.
- Test Code
- 3988
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or Dried Blood Spot (FTA Card)
- Result Time
- Reports are delivered within 3 to 4 weeks from receipt of the sample. The exact timeline depends on sequencing completion and the need for confirmatory testing.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation such as fasting is needed. Kindly provide a referral or clinical history. A genetic counselling session is recommended to draw a pedigree chart of family members affected with the syndrome.
Method: Blood draw / FTA card / extracted DNA submission
Laboratory Analysis
A small blood sample is collected by a trained phlebotomist. If using an FTA card, a few drops of blood are applied. The sample is labeled and transported to the laboratory.
Report Delivery
The sample is processed in the molecular diagnostics laboratory. The report will be shared through secure channels after completion. A genetic counsellor will help explain the result.
Timeline: Reports are delivered within 3 to 4 weeks from receipt of the sample. The exact timeline depends on sequencing completion and the need for confirmatory testing.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the TMCO1 gene NGS genetic test is to identify pathogenic or likely pathogenic variants in the TMCO1 gene that may explain the clinical features seen in a patient. A confirmed genetic diagnosis can help clinicians guide management, surveillance, family counselling and reproductive decisions.
How to Prepare
- No fasting required
- Whole blood in EDTA tube is preferred
- Extracted DNA samples must be labeled clearly
- FTA card blood spots should be air-dried before packing
- Complete the test request form and consent document
- For minors, parent or guardian consent is required
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This NGS test should be considered after a clinical genetics evaluation. In families with multiple affected children, genetic counseling and carrier testing are strongly recommended."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Incorrectly labeled or unlabeled samples
- Inadequate blood volume or DNA concentration
- Degraded or contaminated extracted DNA
Understanding Your Results
Negative
No pathogenic or likely pathogenic variant was detected in the TMCO1 gene.
Action: Other genetic or non-genetic causes may need to be explored.
Positive
A pathogenic or likely pathogenic variant was detected, supporting the clinical diagnosis.
Action: Genetic counseling and family testing are recommended.
Variant of uncertain significance (VUS)
A sequence change was found, but its clinical significance is not yet known.
Action: Further segregation studies or functional testing may be required.
If the patient has unexplained craniofacial dysmorphism, skeletal anomalies, developmental delay, intellectual disability, or a family history of TMCO1-related syndrome, please consult a neurologist, medical geneticist or pediatrician for further evaluation.
Limitations
- ⚠NGS may not detect large gene deletions/duplications, structural rearrangements or deep intronic variants.
- ⚠Very low-level somatic/germline mosaicism may not be detected.
- ⚠A negative TMCO1 result does not exclude all other genetic causes of the clinical presentation.
Risks & Considerations
- ●Minor discomfort or bruising at the blood collection site
- ●Rarely, an unexpected or secondary genetic finding may be identified
Interfering Factors
- ●Poor DNA quality or quantity
- ●Sample contamination with another person's DNA
- ●Variants located in deep intronic or regulatory regions not covered by NGS
- ●Low-level mosaicism below the detection limit
- ●Incorrect or incomplete sample labeling
Compare With Similar Tests
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| Comparison | TMCO1 Gene Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome NGS Genetic Test |
Frequently Asked Questions
What is TMCO1 gene-related craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome?
Who should consider this TMCO1 gene NGS test?
Why is NGS technology used for this test?
What is the cost of the TMCO1 gene NGS genetic test at DNA Labs India?
What sample types are accepted for this test?
Does the test require fasting?
When will I get my reports?
Is home sample collection available?
Will I receive the raw data with my clinical report?
What does a positive test result mean?
Is genetic counseling included with the test?
How do I book this test at DNA Labs India?
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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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