OBSL1 Gene Three M syndrome type 2 NGS Genetic Test
Short Name: OBSL1 NGS Test
Also known as: OBSL1 Gene Mutation Test, Three M Syndrome Type 2 Genetic Test, OBSL1 NGS Panel
OBSL1 Gene Three M 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 primary purpose of the OBSL1 Gene Three M Syndrome Type 2 NGS Genetic Test is to confirm or rule out a diagnosis of Three M Syndrome Type 2 in individuals exhibiting characteristic clinical features. It also serves to identify carriers in families with a known history, facilitate prenatal diagnosis in at-risk pregnancies, and provide essential information for genetic counseling. By detecting pathogenic variants in the OBSL1 gene, the test helps clinicians differentiate Three M Syndrome Type 2 from other conditions with overlapping phenotypes, such as Russell-Silver syndrome or other primordial dwarfism disorders. This precision is vital for tailoring management strategies, including growth hormone therapy considerations, orthopedic interventions, and surveillance for potential complications. Additionally, the test results can guide family planning decisions and provide psychological clarity for affected individuals and their families.
- Test Code
- 5960
- 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 the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a clinical history of the patient and a genetic counseling session to draw a pedigree chart are recommended before the test.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample is collected by a trained phlebotomist using standard venipuncture technique. For FTA card, a simple fingerstick is sufficient.
Report Delivery
No specific aftercare is needed. The sample is sent to the laboratory for analysis.
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 primary purpose of the OBSL1 Gene Three M Syndrome Type 2 NGS Genetic Test is to confirm or rule out a diagnosis of Three M Syndrome Type 2 in individuals exhibiting characteristic clinical features. It also serves to identify carriers in families with a known history, facilitate prenatal diagnosis in at-risk pregnancies, and provide essential information for genetic counseling. By detecting pathogenic variants in the OBSL1 gene, the test helps clinicians differentiate Three M Syndrome Type 2 from other conditions with overlapping phenotypes, such as Russell-Silver syndrome or other primordial dwarfism disorders. This precision is vital for tailoring management strategies, including growth hormone therapy considerations, orthopedic interventions, and surveillance for potential complications. Additionally, the test results can guide family planning decisions and provide psychological clarity for affected individuals and their families.
How to Prepare
- Ensure the patient's identity is verified before sample collection.
- Use EDTA vacutainer for blood collection; mix gently to prevent clotting.
- If using FTA card, apply one drop of blood onto the designated circle and allow to air dry.
- Label the sample with patient's name, date of birth, and collection date.
- Transport the sample to the laboratory at ambient temperature.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Three M Syndrome Type 2 is a rare autosomal recessive disorder. Early genetic confirmation is crucial for management and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling or missing patient information
- Sample received after prolonged transit time without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Three M Syndrome Type 2. Genetic counseling is recommended for family members.
Likely pathogenic variant detected
Highly suggestive of the condition; clinical correlation and family studies are advised.
Variant of uncertain significance (VUS)
Insufficient evidence to determine pathogenicity; further testing of family members may be needed.
No pathogenic variants detected
Negative result; Three M Syndrome Type 2 is unlikely, but other genetic causes should be considered.
Consult a geneticist or pediatrician if your child exhibits unexplained short stature, skeletal abnormalities, or developmental delays. Also, seek genetic counseling if you have a family history of Three M Syndrome Type 2 or related disorders.
Limitations
- ⚠This test detects mutations only in the OBSL1 gene; other genes (e.g., CUL7, OBSL1) may be involved in Three M syndrome, and a multi-gene panel may be recommended.
- ⚠NGS may not detect large genomic rearrangements or deep intronic variants; additional testing may be required if clinical suspicion remains high.
- ⚠Variants of uncertain significance (VUS) may be reported; further familial segregation studies may be needed.
- ⚠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 receiving a genetic diagnosis
- ●Potential for uncertain results (VUS) that may require further testing
Interfering Factors
- ●Contamination of sample with foreign DNA
- ●Insufficient DNA quantity or quality
- ●Presence of maternal cell contamination in prenatal samples
- ●Rare genetic variants of uncertain significance that may require further analysis
Compare With Similar Tests
| Test | OBSL1 Gene Three M syndrome type 2 NGS Genetic Test | CUL7 Gene Three M Syndrome Type 1 NGS Test | Skeletal Dysplasia Panel | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | OBSL1 Gene Three M syndrome type 2 NGS Genetic Test |
Frequently Asked Questions
What is Three M Syndrome Type 2?
How is the OBSL1 gene test performed?
What is the cost of the test?
Who should get this test?
Is fasting required before the test?
What is the turnaround time for results?
Can the test be done on a newborn?
What does a negative result mean?
Are there any risks associated with the test?
Is genetic counseling included?
Can this test detect carriers?
Is home sample collection available?
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₹20,000Reference Laboratory Services
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