TCOF1 Gene Treacher Collins syndrome type 1 NGS Genetic Test
Short Name: TCOF1 NGS Test
Also known as: Mandibulofacial dysostosis genetic test, TCS1 NGS panel, TCOF1 gene sequencing
TCOF1 Gene Treacher Collins syndrome type 1 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 Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to confirm a clinical diagnosis of Treacher Collins Syndrome Type 1 by identifying pathogenic variants in the TCOF1 gene. It is also used for carrier testing, prenatal diagnosis in at-risk pregnancies, and to differentiate TCS Type 1 from other types (POLR1C, POLR1D) or similar craniofacial syndromes. The results aid in genetic counseling, prognosis, and management planning.
- Test Code
- 5965
- CPT Code
- 81407
- ICD Code
- Q75.4
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended before the test to discuss the implications and obtain informed consent.
Method: Venipuncture or Finger-prick
Laboratory Analysis
A blood sample is drawn by a trained phlebotomist. For FTA card, a simple finger-prick is sufficient. The procedure is quick and minimally invasive.
Report Delivery
No restrictions. You can resume normal activities immediately. The sample will be sent to the laboratory for analysis.
Timeline: Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm a clinical diagnosis of Treacher Collins Syndrome Type 1 by identifying pathogenic variants in the TCOF1 gene. It is also used for carrier testing, prenatal diagnosis in at-risk pregnancies, and to differentiate TCS Type 1 from other types (POLR1C, POLR1D) or similar craniofacial syndromes. The results aid in genetic counseling, prognosis, and management planning.
How to Prepare
- Ensure the sample is collected in the provided EDTA tube or on the FTA card.
- Label the sample with patient's name and date of birth.
- For home collection, keep the sample at room temperature until pickup.
- Avoid eating or drinking anything for at least 30 minutes before saliva collection (if saliva kit is used).
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for TCOF1 mutations is crucial for confirming the clinical diagnosis of Treacher Collins Syndrome Type 1, enabling early intervention and informed family planning. The NGS method provides high sensitivity and specificity."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Incorrectly labeled sample
- Sample received after prolonged transit without proper temperature control
Understanding Your Results
Positive (Pathogenic variant detected)
Confirms diagnosis of TCS Type 1. Autosomal dominant inheritance. Genetic counseling recommended for family planning.
Negative (No pathogenic variant)
No mutation found in TCOF1. Consider testing for POLR1C/POLR1D or other syndromes if clinical suspicion remains.
Variant of Uncertain Significance (VUS)
A genetic change was found but its clinical significance is unknown. Further testing of family members may help classify the variant.
Consult a clinical geneticist or pediatrician if you or your child have features suggestive of Treacher Collins Syndrome, or if you have a family history of the condition. Genetic counseling is recommended before and after testing.
Limitations
- ⚠This test detects mutations in the TCOF1 gene only; mutations in POLR1C or POLR1D are not covered.
- ⚠Variants of uncertain significance (VUS) may be reported; further family studies may be needed.
- ⚠Not a substitute for clinical evaluation by a geneticist.
- ⚠Does not predict severity of the condition.
Risks & Considerations
- ●Minimal risk of bleeding or bruising at the needle site
- ●Rare risk of infection
- ●Psychological impact of results
Interfering Factors
- ●Contamination of sample with foreign DNA
- ●Insufficient DNA quantity or quality
- ●Presence of large deletions/duplications not detected by standard NGS (may require additional testing)
- ●Mosaic mutations may be missed
Compare With Similar Tests
| Test | TCOF1 Gene Treacher Collins syndrome type 1 NGS Genetic Test | TCOF1 Targeted Mutation Analysis | Treacher Collins Syndrome Full Panel (TCOF1, POLR1C, POLR1D) | Chromosomal Microarray (CMA) |
|---|---|---|---|---|
| Comparison | TCOF1 Gene Treacher Collins syndrome type 1 NGS Genetic Test |
Frequently Asked Questions
What is the cost of the TCOF1 gene NGS genetic test in India?
What sample is required for this test?
How long does it take to get the results?
Is fasting required before the test?
What does a positive result mean?
Can this test detect all types of Treacher Collins Syndrome?
Is home sample collection available?
Is genetic counseling included?
What is the CPT code for this test?
Can this test be done during pregnancy?
Are there any risks associated with the test?
What if the result is negative but symptoms persist?
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₹20,000Reference Laboratory Services
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