CUL7 Gene Three M syndrome type 1 NGS Genetic Test
Short Name: CUL7 NGS Test
Also known as: CUL7 Gene Mutation Test, Three M Syndrome Genetic Test, CUL7 Sequencing
CUL7 Gene Three M 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 Results are usually delivered within 3 to 4 weeks after the sample reaches the laboratory. You will be notified via email or phone when the report is ready.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to confirm a clinical diagnosis of Three M Syndrome type 1 by identifying pathogenic variants in the CUL7 gene. It also helps in carrier detection for family members, provides information for genetic counseling, and aids in reproductive planning. Additionally, the test can differentiate Three M syndrome from other conditions with overlapping features, such as Russell-Silver syndrome or 3-M syndrome type 2/3, thereby guiding appropriate management.
- Test Code
- 5956
- 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
- Results are usually delivered within 3 to 4 weeks after the sample reaches the laboratory. You will be notified via email or phone when the report is ready.
- 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
Blood sample is collected by a trained phlebotomist using standard venipuncture technique. For FTA card, a few drops of blood are placed on the card and allowed to dry.
Report Delivery
No specific aftercare is needed. The sample is transported to the laboratory at ambient temperature.
Timeline: Results are usually delivered within 3 to 4 weeks after the sample reaches the laboratory. You will be notified via email or phone when the report is ready.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm a clinical diagnosis of Three M Syndrome type 1 by identifying pathogenic variants in the CUL7 gene. It also helps in carrier detection for family members, provides information for genetic counseling, and aids in reproductive planning. Additionally, the test can differentiate Three M syndrome from other conditions with overlapping features, such as Russell-Silver syndrome or 3-M syndrome type 2/3, thereby guiding appropriate management.
How to Prepare
- Ensure the patient's identity is verified with two identifiers.
- Use EDTA vacutainer for blood collection; mix gently to prevent clotting.
- If using FTA card, apply blood drops to the marked circles and air dry for at least 30 minutes.
- Label the sample with patient name, date of birth, and collection date.
- Transport the sample to the lab within 24-48 hours; avoid extreme temperatures.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis of Three M syndrome is crucial for appropriate growth monitoring and management. This test provides definitive molecular confirmation."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample exposed to extreme heat or cold
- Expired collection tube
Understanding Your Results
Positive (Pathogenic variant detected)
Confirms diagnosis of Three M Syndrome type 1. Genetic counseling is recommended for the family.
Action: Discuss management options, including growth hormone therapy and orthopedic care.
Negative (No pathogenic variant detected)
No disease-causing mutation found in the CUL7 gene. Consider testing other genes (OBSL1, CCDC8) or other differential diagnoses.
Action: Further clinical evaluation and alternative genetic testing may be needed.
Variant of Uncertain Significance (VUS)
A genetic variant was found, but its clinical significance is unclear. Additional testing of family members may help clarify.
Action: Genetic counseling and possible functional studies or segregation analysis.
Consult a clinical geneticist or pediatrician if you or your child have unexplained short stature, characteristic facial features, or skeletal abnormalities. Also, if there is a family history of Three M syndrome, genetic counseling and testing are advised.
Limitations
- ⚠This test detects mutations in the CUL7 gene only; other genes causing Three M syndrome (e.g., OBSL1, CCDC8) are not covered.
- ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be required.
- ⚠Variants of uncertain significance (VUS) may be reported; further family studies may be needed.
- ⚠Test does not assess non-coding regulatory regions.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for variants of uncertain significance causing anxiety
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 | CUL7 Gene Three M syndrome type 1 NGS Genetic Test | OBSL1 Gene Three M Syndrome Type 2 NGS Test | CCDC8 Gene Three M Syndrome Type 3 NGS Test | Russell-Silver Syndrome Methylation Test |
|---|---|---|---|---|
| Comparison | CUL7 Gene Three M syndrome type 1 NGS Genetic Test |
Frequently Asked Questions
What is Three M Syndrome type 1?
What are the symptoms of Three M Syndrome type 1?
How is Three M Syndrome type 1 diagnosed?
What is the cost of the CUL7 gene NGS test?
What sample is required for the test?
Is fasting required before the test?
How long does it take to get results?
Can the test be done on children?
Does the test detect all types of Three M syndrome?
What does a negative result mean?
Is genetic counseling included?
In which cities is home sample collection available?
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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.
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