TUBGCP6 Gene Microcephaly and chorioretinopathy with or without mental retardation NGS Genetic Test
Short Name: TUBGCP6 NGS Test
Also known as: TUBGCP6 Gene Mutation Test, Microcephaly Chorioretinopathy NGS Panel
TUBGCP6 Gene Microcephaly and chorioretinopathy with or without mental retardation 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 NGS genetic test is to identify pathogenic variants in the TUBGCP6 gene that cause microcephaly and chorioretinopathy with or without mental retardation. This test aids in confirming clinical diagnosis, providing prognostic information, and enabling genetic counseling for affected families.
- Test Code
- 5849
- CPT Code
- 81407
- ICD Code
- Q02
- 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. However, a genetic counseling session is recommended before the test to discuss family history and 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. 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 NGS genetic test is to identify pathogenic variants in the TUBGCP6 gene that cause microcephaly and chorioretinopathy with or without mental retardation. This test aids in confirming clinical diagnosis, providing prognostic information, and enabling genetic counseling for affected families.
How to Prepare
- For blood sample: Use EDTA tube, mix gently.
- For FTA card: Apply one drop of blood onto the designated circle, air dry for 30 minutes.
- Label the sample with patient name, date of birth, and collection date.
- Transport at room temperature (15-30°C) to the laboratory.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic diagnosis of TUBGCP6 mutations is crucial for managing microcephaly and chorioretinopathy. This NGS test provides definitive answers for affected families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling
- Sample received after prolonged delay (>7 days) without proper storage
Understanding Your Results
Positive (Pathogenic variant)
Confirms diagnosis of TUBGCP6-related microcephaly and chorioretinopathy. Genetic counseling recommended for family planning.
Action: Discuss management options with a specialist.
Negative (No pathogenic variant)
No mutation found in TUBGCP6 gene. Other genetic or non-genetic causes should be considered.
Action: Further evaluation by a geneticist may be needed.
Variant of Uncertain Significance (VUS)
A genetic variant was found but its clinical significance is unknown. Additional family testing may help clarify.
Action: Consult with a genetic counselor for further analysis.
Consult a doctor if your child has a small head circumference, developmental delays, vision problems, or seizures. Early referral to a geneticist is recommended for proper evaluation and testing.
Limitations
- ⚠This test detects mutations only in the TUBGCP6 gene; other genetic causes of microcephaly are not covered.
- ⚠Variant of uncertain significance (VUS) may require additional family studies.
- ⚠NGS may not detect large deletions/duplications or deep intronic variants.
- ⚠Test results should be interpreted in the context of clinical findings and family history.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for uncertain results (VUS)
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Incomplete clinical information
- ●Presence of maternal cell contamination in prenatal samples
- ●Rare polymorphisms that may complicate interpretation
Compare With Similar Tests
| Test | TUBGCP6 Gene Microcephaly and chorioretinopathy with or without mental retardation NGS Genetic Test | Whole Exome Sequencing (WES) | Chromosomal Microarray (CMA) | Sanger Sequencing |
|---|---|---|---|---|
| Comparison | TUBGCP6 Gene Microcephaly and chorioretinopathy with or without mental retardation NGS Genetic Test | WES covers all coding regions of genes, including TUBGCP6, but is more expensive and time-consuming. Targeted NGS is cost-effective for specific gene analysis. | CMA detects copy number variations but does not detect single nucleotide variants in TUBGCP6. NGS is superior for point mutations. | Sanger sequencing is used for targeted single variant confirmation but is not suitable for full gene analysis. NGS is more comprehensive. |
Frequently Asked Questions
What is the TUBGCP6 gene?
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What sample is required?
Is fasting required?
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Is home sample collection available?
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