CCDC8 Gene Three M syndrome type 3 NGS Genetic Test
Short Name: CCDC8 NGS Test
Also known as: CCDC8 Gene Mutation Test, Three M Syndrome Type 3 Genetic Test, CCDC8 Sequencing
CCDC8 Gene Three M 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 available 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 CCDC8 gene that are associated with Three M syndrome type 3. It aids in confirming a clinical diagnosis, differentiating from other short stature syndromes, and providing information for genetic counseling and family planning.
- Test Code
- 5957
- CPT Code
- 81407
- ICD Code
- Q87.1
- 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 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 the implications and obtain informed consent.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample is collected by a trained phlebotomist using sterile techniques. For FTA card, a fingerstick blood drop is applied to the card.
Report Delivery
No specific precautions. The sample is sent to the laboratory for analysis.
Timeline: Reports are typically available 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 CCDC8 gene that are associated with Three M syndrome type 3. It aids in confirming a clinical diagnosis, differentiating from other short stature syndromes, and providing information for genetic counseling and family planning.
How to Prepare
- For blood sample: Use EDTA vacutainer, mix gently to prevent clotting.
- For FTA card: Apply one drop of blood onto the designated circle, air dry for at least 30 minutes.
- Label the sample with patient ID and date of collection.
- Transport at ambient temperature (15-25°C) to the laboratory.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Three M syndrome type 3 is a rare autosomal recessive disorder. Genetic confirmation is essential for accurate prognosis and family counseling."
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
Confirms diagnosis of Three M syndrome type 3. Genetic counseling recommended for family planning.
Negative
No pathogenic variant found in CCDC8. Other genetic causes should be considered.
Variant of Uncertain Significance (VUS)
Further testing of family members may be needed to clarify the significance.
If you or your child have symptoms suggestive of Three M syndrome, such as severe short stature, distinctive facial features, or skeletal abnormalities, consult a clinical geneticist or pediatric endocrinologist for evaluation and genetic testing.
Limitations
- ⚠This test does not detect mutations in other genes associated with Three M syndrome (CUL7, OBSL1).
- ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be required.
- ⚠Variant of uncertain significance may require further family studies.
- ⚠Negative result does not completely rule out the condition if clinical suspicion is high.
Risks & Considerations
- ●Minimal risk of bruising or infection at blood draw site
- ●Psychological impact of genetic results
- ●Potential for incidental findings
Interfering Factors
- ●Poor sample quality or insufficient DNA
- ●Contamination during sample collection
- ●Presence of maternal cell contamination in prenatal samples
- ●Rare genetic variants of uncertain significance
Compare With Similar Tests
| Test | CCDC8 Gene Three M syndrome type 3 NGS Genetic Test | CUL7 Gene Sequencing | OBSL1 Gene Sequencing | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | CCDC8 Gene Three M syndrome type 3 NGS Genetic Test |
Frequently Asked Questions
What is Three M syndrome type 3?
How is the CCDC8 gene test performed?
What is the cost of the CCDC8 gene test at DNA Labs India?
How long does it take to get the results?
Is fasting required for this test?
Can this test detect all types of Three M syndrome?
Who should consider this test?
What is the sample type required?
Is genetic counseling included?
Are there any risks associated with the test?
Can this test be done during pregnancy?
What does a positive result mean?
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₹20,000Reference Laboratory Services
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