ORC4 Gene Meier-Gorlin syndrome type 2 NGS Genetic Test
Short Name: ORC4 Gene MGS2 NGS
Also known as: MGS2 Genetic Test, ORC4 Gene Sequencing, Meier-Gorlin Syndrome Type 2 NGS Panel
ORC4 Gene Meier-Gorlin 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 Results 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 this test is to confirm a clinical diagnosis of Meier-Gorlin syndrome type 2 by identifying pathogenic mutations in the ORC4 gene. It is also used for carrier testing in at-risk family members and for prenatal diagnosis in families with a known mutation. Early diagnosis enables appropriate medical surveillance, management of growth and skeletal issues, and informed reproductive decisions.
- Test Code
- 5842
- CPT Code
- 81408
- ICD Code
- Q87.1
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results 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 to discuss the test implications and family history.
Method: Venipuncture or Finger-prick
Laboratory Analysis
Blood sample is collected via venipuncture or a finger-prick for FTA card. The procedure is quick and minimally invasive.
Report Delivery
No specific aftercare is needed. The sample is sent to the laboratory for analysis. Results are typically available in 3-4 weeks.
Timeline: Results 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 this test is to confirm a clinical diagnosis of Meier-Gorlin syndrome type 2 by identifying pathogenic mutations in the ORC4 gene. It is also used for carrier testing in at-risk family members and for prenatal diagnosis in families with a known mutation. Early diagnosis enables appropriate medical surveillance, management of growth and skeletal issues, and informed reproductive decisions.
How to Prepare
- Ensure the patient's clinical history and pedigree chart are provided.
- Use EDTA tube for blood collection or FTA card for dried blood spot.
- Label the sample with patient ID and date of collection.
- Transport the sample at ambient temperature to the laboratory.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Meier-Gorlin syndrome type 2 is a rare primordial dwarfism disorder. Early genetic confirmation is crucial for management and family counseling. NGS provides comprehensive analysis of the ORC4 gene."
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 transit time without proper storage
Understanding Your Results
Positive (pathogenic variant detected)
Confirms the diagnosis of Meier-Gorlin syndrome type 2. Genetic counseling is recommended for the family.
Action: Discuss management options and reproductive planning.
Negative (no pathogenic variant detected)
No disease-causing mutation found in ORC4. Other genetic causes may be considered.
Action: Consider testing other MGS-related genes or whole exome sequencing.
Variant of uncertain significance (VUS)
A genetic variant was found but its clinical significance is unknown.
Action: Further family segregation studies may be needed to clarify.
Consult a clinical geneticist or pediatrician if you or your child exhibit symptoms such as short stature, microcephaly, absent kneecaps, or characteristic facial features. Early diagnosis can help manage the condition and provide appropriate support.
Limitations
- ⚠This test only analyzes the ORC4 gene; mutations in other genes causing MGS will not be detected.
- ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be required.
- ⚠Variant of uncertain significance (VUS) may require further family studies.
- ⚠Test does not assess non-coding regulatory regions beyond standard analysis.
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)
Interfering Factors
- ●Contaminated or degraded DNA samples
- ●Incomplete clinical information
- ●Presence of pseudogenes or homologous sequences
- ●Low coverage in certain gene regions
Compare With Similar Tests
| Test | ORC4 Gene Meier-Gorlin syndrome type 2 NGS Genetic Test | Whole Exome Sequencing (WES) | Targeted MGS Panel | Sanger Sequencing |
|---|---|---|---|---|
| Comparison | ORC4 Gene Meier-Gorlin syndrome type 2 NGS Genetic Test | WES analyzes all coding regions of the genome, covering multiple MGS-related genes. It is more comprehensive but costlier and may have longer turnaround time. | A panel testing multiple genes associated with MGS (e.g., ORC1, ORC4, ORC6, CDT1, CDC6) provides broader coverage than single-gene testing at a similar cost. | Sanger sequencing is used for targeted variant confirmation or family member testing. It is less efficient for initial diagnosis but cheaper for known mutations. |
Frequently Asked Questions
What is Meier-Gorlin syndrome type 2?
How is the ORC4 gene test performed?
What is the cost of the ORC4 gene test in India?
What is the turnaround time for results?
Is fasting required before the test?
What sample types are accepted?
Can this test be done for children?
Will I receive raw data files?
What does a positive result mean?
What if the result is negative?
Is genetic counseling included?
In which cities is home sample collection available?
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₹20,000Reference Laboratory Services
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