POLR1C Gene Treacher Collins syndrome type 3 NGS Genetic Test
Short Name: POLR1C NGS Test
Also known as: POLR1C Gene Mutation Test, TCS Type 3 Genetic Test, Next-Generation Sequencing for POLR1C
POLR1C Gene Treacher Collins syndrome type 3 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 sample receipt.. 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 detect mutations in the POLR1C gene that cause Treacher Collins Syndrome type 3. It aids in confirming a clinical diagnosis, carrier detection, and providing information for genetic counseling and family planning.
- Test Code
- 5967
- 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 sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation required. A genetic counseling session is recommended prior to testing to discuss implications.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample is drawn by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient.
Report Delivery
No restrictions. Patient can resume normal activities immediately.
Timeline: Reports are typically delivered within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the POLR1C gene that cause Treacher Collins Syndrome type 3. It aids in confirming a clinical diagnosis, carrier detection, and providing information for genetic counseling and family planning.
How to Prepare
- For blood: Use EDTA tube, mix gently to prevent clotting
- For FTA card: Apply one drop of blood onto the card, air dry
- Label sample with patient ID and date
- Transport at room temperature
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic confirmation of Treacher Collins Syndrome type 3 is crucial for management and family counseling. This NGS test provides precise detection of POLR1C mutations."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged transit without proper storage
Understanding Your Results
Positive
Pathogenic variant detected; diagnosis of TCS type 3 confirmed
Action: Genetic counseling, family screening, management planning
Negative
No pathogenic variant in POLR1C; consider testing other TCS genes
Action: Further evaluation by clinical geneticist
Variant of Uncertain Significance (VUS)
A variant with unknown clinical significance
Action: Additional testing of family members, functional studies may be needed
Consult a clinical geneticist or pediatrician if you or your child have symptoms suggestive of Treacher Collins Syndrome, or if there is a family history of the condition. Early consultation can facilitate timely diagnosis and management.
Limitations
- ⚠This test only analyzes the POLR1C gene; mutations in other genes (TCOF1, POLR1D) are not detected
- ⚠NGS may not detect large deletions/duplications or deep intronic variants
- ⚠Variant interpretation may require additional family studies
- ⚠Test does not predict severity or progression of symptoms
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving a genetic diagnosis
- ●Potential for uncertain results (VUS)
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Incomplete clinical information
- ●Presence of maternal cell contamination in prenatal samples
- ●Rare variants of uncertain significance
Compare With Similar Tests
| Test | POLR1C Gene Treacher Collins syndrome type 3 NGS Genetic Test | TCOF1 Gene Sequencing | POLR1D Gene Sequencing | Craniofacial Panel (NGS) |
|---|---|---|---|---|
| Comparison | POLR1C Gene Treacher Collins syndrome type 3 NGS Genetic Test |
Frequently Asked Questions
What is Treacher Collins Syndrome type 3?
How is this test performed?
What is the cost of the test?
Is fasting required before the test?
How long does it take to get results?
Can this test be done on children?
What does a positive result mean?
What if the result is negative?
Is genetic counseling included?
Can I get a home sample collection?
What is the sample type required?
Are there any risks associated with the test?
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₹20,000Reference 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.
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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