MID1 Gene Opitz G syndrome NGS Genetic Test
Short Name: MID1 Gene NGS Test
Also known as: MID1 Gene Mutation Test, Opitz G Syndrome NGS Panel, MID1 Sequencing Test, Opitz Syndrome Genetic Test
MID1 Gene Opitz G syndrome 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 (21-28 days) after the sample reaches the laboratory. The turnaround time may be extended if additional validation or family studies are required.. 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 primary purpose of the MID1 Gene Opitz G Syndrome NGS Genetic Test is to confirm or rule out Opitz G Syndrome in individuals presenting with suggestive clinical features. It also serves to identify carriers, guide reproductive decisions, and facilitate early intervention. The test uses NGS technology, which allows simultaneous sequencing of the entire MID1 gene coding region and intron-exon boundaries, detecting single nucleotide variants, small insertions/deletions, and splice-site mutations. This is essential for accurate diagnosis, as the clinical spectrum of Opitz G Syndrome overlaps with other midline defects. Molecular confirmation enables precise genetic counseling, risk assessment for family members, and recurrence risk estimation.
- Test Code
- 4438
- CPT Code
- 81406
- ICD Code
- Q87.8
- 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 (21-28 days) after the sample reaches the laboratory. The turnaround time may be extended if additional validation or family studies are required.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
Complete a genetic counseling session as pre-test counseling is mandatory. Provide a detailed clinical history and any prior laboratory or imaging findings. No fasting required.
Method: Peripheral venipuncture / FTA spot / DNA submission
Laboratory Analysis
Blood collection is performed under sterile conditions. For FTA card, a single drop of blood is placed on the designated card and allowed to dry. For extracted DNA submission, ensure sample is labelled and transported in appropriate buffer.
Report Delivery
The sample is transported to the laboratory at ambient temperature. Patient can resume normal activities immediately after sample collection.
Timeline: Reports are typically available within 3 to 4 weeks (21-28 days) after the sample reaches the laboratory. The turnaround time may be extended if additional validation or family studies are required.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the MID1 Gene Opitz G Syndrome NGS Genetic Test is to confirm or rule out Opitz G Syndrome in individuals presenting with suggestive clinical features. It also serves to identify carriers, guide reproductive decisions, and facilitate early intervention. The test uses NGS technology, which allows simultaneous sequencing of the entire MID1 gene coding region and intron-exon boundaries, detecting single nucleotide variants, small insertions/deletions, and splice-site mutations. This is essential for accurate diagnosis, as the clinical spectrum of Opitz G Syndrome overlaps with other midline defects. Molecular confirmation enables precise genetic counseling, risk assessment for family members, and recurrence risk estimation.
How to Prepare
- We recommend using an EDTA vacutainer for blood collection
- For FTA card: apply a single drop of blood onto each card circle and let it air dry for at least 1 hour before sealing in the provided pouch
- For extracted DNA: submit at least 1-2 micrograms of high-quality DNA in a DNA-free tube
- Label the sample with patient name, date of birth, and collection date
- Avoid contamination by wearing gloves during collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"The MID1 gene plays a critical role in midline development. NGS-based testing is essential to identify pathogenic mutations in Opitz G Syndrome. Early diagnosis helps guide multidisciplinary care for affected individuals, including surgical, cardiac, and neurological intervention."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Incorrectly labelled sample
- Sample in non-sterile or leaking container
- Insufficient quantity of extracted DNA
- Sample collection tube containing anticoagulant other than EDTA
Understanding Your Results
Pathogenic or likely pathogenic variant detected
Confirms the molecular diagnosis of Opitz G Syndrome. Enables targeted surveillance and management.
Variant of uncertain significance (VUS) detected
Further segregation analysis or functional studies may be required. Consultation with a geneticist is advised.
No pathogenic variant detected
The absence of a MID1 mutation does not exclude Opitz G Syndrome. Consider other genes or alternative diagnoses.
Consult a clinical geneticist or pediatric neurologist if your child shows symptoms such as hypertelorism, cleft palate, feeding difficulties, heart murmur, or urogenital anomalies. Early diagnostic testing can significantly improve outcomes through timely surgical and medical intervention.
Limitations
- ⚠This test does not detect large gene deletions, duplications, or chromosomal rearrangements unless copy number variant (CNV) analysis is included
- ⚠Regulatory region variants may not be identified by standard NGS
- ⚠Results should be interpreted by a clinical geneticist in conjunction with clinical evaluation
- ⚠Negative result does not completely exclude Opitz G Syndrome if clinical suspicion is high
- ⚠Variant classification may require additional family co-segregation data
Risks & Considerations
- ●No significant health risks are associated with blood sample collection
- ●Minimal risk of hematoma or bruising at the puncture site
- ●No anesthesia is required and the procedure is safe for newborns and children
Interfering Factors
- ●Poor quality or degraded DNA sample
- ●Incomplete clinical information provided with the test
- ●Presence of a variant of uncertain significance (VUS) requiring family studies
- ●Mosaic mutations may escape detection
- ●Intronic variants outside the analyzed regions may not be detected
Compare With Similar Tests
| Test | MID1 Gene Opitz G syndrome NGS Genetic Test | ||
|---|---|---|---|
| Comparison | MID1 Gene Opitz G syndrome NGS Genetic Test |
Frequently Asked Questions
What is Opitz G Syndrome?
How is the MID1 gene mutation detected?
What is the cost of the MID1 Gene Opitz G Syndrome NGS Genetic Test?
Is home sample collection available?
What sample is required?
How long does it take to get results?
Will the report include raw data files?
Who should get this test done?
Is fasting required before the test?
What is the role of genetic counseling in this test?
Can this test detect all types of MID1 mutations?
Will insurance cover the cost of this test?
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