POLR1D Gene Treacher Collins syndrome type 2 NGS Genetic Test
Short Name: POLR1D NGS
Also known as: POLR1D Gene Mutation Test, Treacher Collins Syndrome Type 2 Genetic Test
POLR1D Gene Treacher Collins syndrome type 2 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 available 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 the POLR1D gene NGS genetic test is to identify mutations in the POLR1D gene that cause Treacher Collins Syndrome Type 2. This test aids in confirming a clinical diagnosis, differentiating TCS from other craniofacial syndromes, and providing essential information for genetic counseling and family planning. It also helps in assessing the risk of recurrence in future pregnancies and enables proactive management of associated complications such as hearing loss, breathing difficulties, and feeding problems.
- Test Code
- 5968
- 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 available 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 of results. Please inform the lab if you have had a blood transfusion in the past 2 weeks.
Method: Venipuncture or Finger prick
Laboratory Analysis
A blood sample will be drawn from a vein in your arm, or a finger-prick blood spot will be collected on an FTA card. The procedure is quick and minimally invasive.
Report Delivery
You can resume normal activities immediately. The sample will be sent to our laboratory for analysis. Results will be available in 3-4 weeks and will be communicated via your preferred method.
Timeline: Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the POLR1D gene NGS genetic test is to identify mutations in the POLR1D gene that cause Treacher Collins Syndrome Type 2. This test aids in confirming a clinical diagnosis, differentiating TCS from other craniofacial syndromes, and providing essential information for genetic counseling and family planning. It also helps in assessing the risk of recurrence in future pregnancies and enables proactive management of associated complications such as hearing loss, breathing difficulties, and feeding problems.
How to Prepare
- No fasting required
- Avoid alcohol for 24 hours before sample collection
- Inform lab about any recent blood transfusion
- For FTA card, ensure the blood spot is completely dry before packaging
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for POLR1D mutations is crucial for confirming Treacher Collins Syndrome Type 2 and guiding family planning. Early diagnosis can significantly improve management of craniofacial anomalies."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged transit time without proper storage
Understanding Your Results
Positive (Pathogenic variant detected)
Confirms diagnosis of Treacher Collins Syndrome Type 2. Genetic counseling is recommended for family members.
Negative (No pathogenic variant detected)
No mutation in POLR1D gene. Clinical diagnosis may still be considered if symptoms are strong; other genes may be involved.
Variant of Uncertain Significance (VUS)
A genetic variant was found but its clinical significance is unknown. Further testing of family members may help clarify.
Consult a clinical geneticist or pediatrician if you or your child have symptoms suggestive of Treacher Collins Syndrome, such as facial abnormalities, hearing loss, or breathing difficulties. Also, if there is a family history of the condition, genetic counseling is advised before testing.
Limitations
- ⚠This test detects mutations only in the POLR1D gene; mutations in other genes (e.g., TCOF1, POLR1C) may not be identified
- ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be required
- ⚠Variants of uncertain significance may require further family studies
- ⚠Test does not predict severity or expressivity of the phenotype
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Fainting or dizziness during blood collection (rare)
- ●Psychological impact of receiving a genetic diagnosis
Interfering Factors
- ●Contamination of sample with foreign DNA
- ●Insufficient DNA quantity or quality
- ●Presence of maternal cell contamination in prenatal samples
- ●Recent blood transfusion (within 2 weeks) may dilute nucleated cells
Compare With Similar Tests
| Test | POLR1D Gene Treacher Collins syndrome type 2 NGS Genetic Test | TCOF1 Gene NGS Test | POLR1C Gene NGS Test | Craniofacial Panel (Multiple Genes) |
|---|---|---|---|---|
| Comparison | POLR1D Gene Treacher Collins syndrome type 2 NGS Genetic Test |
Frequently Asked Questions
What is the cost of the POLR1D gene NGS genetic test?
What sample is required for this test?
Is fasting required before the test?
How long does it take to get the results?
What does a positive result mean?
Can this test be done during pregnancy?
Is home sample collection available?
What is the accuracy of this NGS test?
Are there any risks associated with the test?
Will insurance cover the cost?
What if the result is negative but symptoms are present?
How should I prepare for the genetic counseling session?
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