ORC1 Gene Meier-Gorlin syndrome type 1 NGS Genetic Test
Short Name: ORC1 MGS1 NGS
Also known as: MGS1 Genetic Test, ORC1 Gene Sequencing, Meier-Gorlin Syndrome Type 1 NGS Panel
ORC1 Gene Meier-Gorlin 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 3 to 4 weeks from sample receipt. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of this test is to confirm a clinical diagnosis of Meier-Gorlin syndrome type 1 by identifying pathogenic variants in the ORC1 gene. It is also used for carrier testing in at-risk family members and for prenatal diagnosis in families with a known mutation. Genetic testing helps in providing accurate genetic counseling, prognosis, and management strategies.
- Test Code
- 5835
- 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
- 3 to 4 weeks from sample receipt
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation required. However, a genetic counseling session is recommended before testing to discuss the implications and obtain informed consent.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample is collected by venipuncture or a fingerstick for FTA card. The procedure is quick and minimally invasive.
Report Delivery
No specific aftercare needed. The sample is sent to the laboratory for analysis.
Timeline: 3 to 4 weeks from sample receipt
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 1 by identifying pathogenic variants in the ORC1 gene. It is also used for carrier testing in at-risk family members and for prenatal diagnosis in families with a known mutation. Genetic testing helps in providing accurate genetic counseling, prognosis, and management strategies.
How to Prepare
- For blood sample: Use EDTA tube, fill to indicated mark, mix gently.
- For FTA card: Apply one drop of blood onto the designated circle, allow to air dry.
- Label the sample with patient's name, date of birth, and collection date.
- Transport sample at ambient temperature within 24 hours.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Early genetic confirmation of Meier-Gorlin syndrome type 1 is crucial for appropriate management and family counseling. This NGS test provides comprehensive analysis of the ORC1 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 diagnosis of Meier-Gorlin syndrome type 1. Genetic counseling recommended for family planning and management.
Negative (no pathogenic variant detected)
Does not rule out MGS1; other genes may be involved. Clinical correlation and further testing may be considered.
Variant of uncertain significance (VUS)
A genetic change was found but its clinical significance is unknown. Additional family studies may help clarify.
Consult a clinical geneticist or pediatrician if you or your child have symptoms suggestive of Meier-Gorlin syndrome, such as short stature, microcephaly, or skeletal abnormalities. Early diagnosis can guide management and family planning.
Limitations
- ⚠NGS may not detect large deletions/duplications or deep intronic variants
- ⚠Variants of uncertain significance may be reported
- ⚠Negative result does not exclude all genetic causes of Meier-Gorlin syndrome
- ⚠Test is not intended for prenatal diagnosis without prior genetic counseling
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for incidental findings (unrelated genetic variants)
Interfering Factors
- ●Contamination of sample with foreign DNA
- ●Insufficient DNA quantity or quality
- ●Presence of maternal cell contamination in prenatal samples
- ●Genetic variants in non-coding regions not covered by NGS
Compare With Similar Tests
| Test | ORC1 Gene Meier-Gorlin syndrome type 1 NGS Genetic Test | Whole Exome Sequencing (WES) | Chromosomal Microarray (CMA) | Sanger Sequencing |
|---|---|---|---|---|
| Comparison | ORC1 Gene Meier-Gorlin syndrome type 1 NGS Genetic Test | WES analyzes all coding regions of the genome, while this test focuses specifically on the ORC1 gene. WES may be considered if MGS1 is suspected but other genes are also possible. | CMA detects copy number variations (deletions/duplications) but does not detect single nucleotide variants. This NGS test is more appropriate for point mutations in ORC1. | Sanger sequencing is used to confirm specific variants identified by NGS or for targeted testing when the familial mutation is known. NGS is more efficient for initial screening. |
Frequently Asked Questions
What is the cost of the ORC1 gene Meier-Gorlin syndrome type 1 NGS genetic test?
What sample is required for this test?
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Is fasting required before the test?
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Will I receive raw data files?
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What is the significance of genetic counseling?
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Can this test be done for prenatal diagnosis?
What if the test result is negative?
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₹20,000Reference Laboratory Services
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