maternal UPD chr. 7 Gene Silver-Russell syndrome NGS Genetic Test
Short Name: Maternal UPD Chr. 7 Test
Also known as: Silver-Russell Syndrome Genetic Test, Maternal UPD Chromosome 7 NGS Test, SRS Genetic Test
maternal UPD chr. 7 Gene Silver-Russell 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 3 to 4 Weeks. 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
To accurately diagnose Silver-Russell Syndrome by detecting maternal UPD of chromosome 7 and other genetic abnormalities using NGS technology, facilitating early intervention and management.
- Test Code
- 2821
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No specific preparation required. Ensure patient clinical history and family pedigree are available for genetic counseling.
Method: Venipuncture or blood drop on FTA card
Laboratory Analysis
Collect blood sample via venipuncture or use FTA card for blood drop. Follow aseptic techniques to avoid contamination.
Report Delivery
Label samples correctly and store at ambient room temperature. Transport to the laboratory within 48 hours for optimal stability.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To accurately diagnose Silver-Russell Syndrome by detecting maternal UPD of chromosome 7 and other genetic abnormalities using NGS technology, facilitating early intervention and management.
How to Prepare
- Use EDTA tube for blood collection
- For FTA card, apply one drop of blood and air dry
- Avoid hemolysis during venipuncture
- Store samples at room temperature
- Include completed requisition form with clinical details
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is essential for early diagnosis and management of Silver-Russell Syndrome in pediatric patients, aiding in timely interventions and genetic counseling for families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Improperly labeled samples
- Contaminated samples
Understanding Your Results
Positive for Maternal UPD Chr. 7
Confirms diagnosis of Silver-Russell Syndrome due to UPD. Recommend genetic counseling and multidisciplinary management.
Negative for Maternal UPD Chr. 7
UPD not detected, but SRS may still be present due to other genetic causes. Consider additional genetic tests.
Variant of Uncertain Significance (VUS)
Genetic variant found but clinical significance unknown. Follow-up with genetic specialist recommended.
Consult a genetic specialist or pediatrician if test results are positive, if symptoms persist despite negative results, or for family planning and genetic counseling.
Limitations
- ⚠May not detect all genetic causes of SRS
- ⚠Requires genetic counseling for interpretation
- ⚠Limited to known genetic markers
- ⚠False negatives possible in rare cases
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic diagnosis
- ●Potential for incidental findings
Interfering Factors
- ●Sample contamination
- ●DNA degradation due to improper storage
- ●Hemolyzed blood samples
- ●Recent blood transfusions
Compare With Similar Tests
| Test | maternal UPD chr. 7 Gene Silver-Russell syndrome NGS Genetic Test | Silver-Russell Syndrome Methylation Test | Chromosomal Microarray Analysis | Whole Exome Sequencing | Growth Hormone Stimulation Test |
|---|---|---|---|---|---|
| Comparison | maternal UPD chr. 7 Gene Silver-Russell syndrome NGS Genetic Test |
Frequently Asked Questions
What is maternal UPD of chromosome 7?
How is the test performed?
What are the symptoms of Silver-Russell Syndrome?
Is fasting required for this test?
How long does it take to get results?
Is home sample collection available?
What is the cost of the test?
Can this test diagnose all cases of Silver-Russell Syndrome?
Who should undergo this test?
What are the risks of the test?
How should I prepare for the test?
What do positive results mean?
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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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