RAI1 Gene Smith-Magenis syndrome NGS Genetic Test
Short Name: RAI1 SMS NGS
Also known as: RAI1 Gene Sequencing, Smith-Magenis Syndrome NGS Test, 17p11.2 Microdeletion Panel
RAI1 Gene Smith-Magenis 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 from the date of sample receipt at the laboratory.. 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
This NGS genetic test is intended to detect pathogenic variants in the RAI1 gene, confirming the clinical diagnosis of Smith-Magenis syndrome. It also helps in assessing recurrence risk in families and guiding early intervention programs.
- Test Code
- 4504
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from the date of sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting or special preparation is required. However, a prior genetic counseling session is strongly recommended. Please bring any previous genetic testing reports, clinical notes, and a detailed family history.
Method: Venipuncture or Fingerstick
Laboratory Analysis
A trained phlebotomist will collect a peripheral venous blood sample (about 5 ml) in an EDTA vacutainer, or a dried blood spot will be prepared on an FTA card using a fingerstick. The procedure is quick and minimally invasive.
Report Delivery
No specific precautions are needed. You may resume normal activities immediately. The sample will be transported to the laboratory at ambient temperature. Results will be shared after 3 to 4 weeks.
Timeline: 3 to 4 weeks from the date of sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
This NGS genetic test is intended to detect pathogenic variants in the RAI1 gene, confirming the clinical diagnosis of Smith-Magenis syndrome. It also helps in assessing recurrence risk in families and guiding early intervention programs.
How to Prepare
- Ensure the sample is collected in the proper EDTA vacutainer or on an FTA card.
- Label the sample clearly with the patient's name, date of birth, and collection date.
- For FTA cards, allow the blood spot to air dry for at least 30 minutes before packaging.
- Transport the sample to the lab at ambient temperature; do not freeze whole blood.
- Avoid hemolysis and clot formation during blood collection.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic counseling holds immense value before and after testing, as Smith-Magenis syndrome requires a multidisciplinary care approach. Our team assists families in understanding the hereditary basis, reproductive risks, and available management options."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood sample
- Insufficient sample volume or inadequate FTA spot
- Improperly labeled sample or missing patient details
- Sample received in non-approved containers or transported at extreme temperatures
Understanding Your Results
A pathogenic or likely pathogenic variant in the RAI1 gene was detected. This confirms the clinical diagnosis of Smith-Magenis syndrome. Genetic counseling and familial variant testing are recommended.
Clinical action: Initiate/support multidisciplinary care, including behavioral, sleep, and developmental interventions.
No pathogenic variant was identified. If clinical suspicion remains high, consider deletion/duplication analysis (MLPA/CMA) to exclude large deletions involving RAI1.
Clinical action: Correlate with clinical findings; consider alternate genetic tests or consultation.
A variant of uncertain significance was identified. Additional familial segregation studies may help clarify its clinical relevance.
Clinical action: Further analysis and expert review; genetic counseling is strongly advised.
If you or your child exhibits behavioral disturbances, sleep problems, developmental delay, recurring infections, and distinct facial features, consult a pediatrician or neurologist for clinical evaluation and referral for genetic testing.
Limitations
- ⚠This test detects mutations in the coding region and intron-exon boundaries of the RAI1 gene only.
- ⚠Large chromosomal rearrangements, such as a full 17p11.2 microdeletion, may not be detected without additional deletion/duplication analysis (e.g., MLPA or CMA).
- ⚠Deep intronic or regulatory region variants may not be identified by this NGS panel.
- ⚠A negative result does not entirely rule out Smith-Magenis syndrome if clinical suspicion remains high; additional testing should be considered.
Risks & Considerations
- ●No significant risks. Minor discomfort, bruising, or bleeding at the collection site may occur.
Interfering Factors
- ●NGS may occasionally produce false-positive or false-negative results due to highly homologous pseudogenes, GC-rich regions, or poor DNA quality.
- ●Recent blood transfusion (when using blood-derived DNA) may dilute nucleated cells and affect the test result.
- ●Sample contamination during handling can compromise accuracy.
Compare With Similar Tests
| Test | RAI1 Gene Smith-Magenis syndrome NGS Genetic Test | RAI1 Gene NGS | Chromosomal Microarray (CMA) |
|---|---|---|---|
| Comparison | RAI1 Gene Smith-Magenis syndrome NGS Genetic Test |
Frequently Asked Questions
What is the cost of the RAI1 Gene Smith-Magenis Syndrome NGS Test?
What is Smith-Magenis syndrome?
How is the test performed?
What sample types are accepted for this test?
Is fasting required before the test?
How long does it take to get the report?
Does the NGS test include deletion/duplication analysis?
Can Smith-Magenis syndrome be diagnosed without genetic testing?
Are raw data files provided?
Who should undergo this genetic test?
Is the test covered by health insurance?
Is genetic counseling included in the test package?
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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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