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SMS Gene Mental retardation, X-linked, Snyder-Robinson type NGS Genetic Test

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SMS Gene Mental retardation, X-linked, Snyder-Robinson type NGS Genetic Test

Short Name: SMS Gene SR Syndrome NGS Test

Also known as: Snyder-Robinson Syndrome, SMS Deficiency Syndrome, X-linked Mental Retardation, Snyder-Robinson Type

SMS Gene Mental retardation, X-linked, Snyder-Robinson type 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 hours. Free home collection in 300+ cities across India.

NGS Genetic TestMale🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of the SMS Gene NGS Genetic Test is to detect mutations in the SMS gene that cause Snyder-Robinson Syndrome, an X-linked mental retardation disorder. This test aids in accurate diagnosis, carrier identification, and genetic counseling for affected families.

Test Code
1712
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks hours
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Genetic counseling session to discuss family history and draw a pedigree chart. Provide clinical history of the patient.

Method: Venipuncture or blood spot on FTA card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or blood spot on FTA card under sterile conditions.

Step 3

Report Delivery

Sample sent to laboratory for DNA extraction and NGS analysis.

Patient Instructions

1
Before the Test:Complete genetic counseling and provide detailed medical history.
2
During the Test:Sample collection procedure takes about 10-15 minutes.
3
After the Test:Wait for 3-4 weeks for results and schedule a follow-up consultation.

About This Test

Who Should Get This Test

The purpose of the SMS Gene NGS Genetic Test is to detect mutations in the SMS gene that cause Snyder-Robinson Syndrome, an X-linked mental retardation disorder. This test aids in accurate diagnosis, carrier identification, and genetic counseling for affected families.

How to Prepare

  • Fasting not required
  • Ensure proper labeling of samples
  • Transport samples at ambient temperature or as specified

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early genetic diagnosis with NGS can help in managing symptoms and family planning for Snyder-Robinson Syndrome."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood or equivalent DNA
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or blood spot on FTA card

Sample Stability

Blood: 4-8°C for up to 48 hours
FTA card: Room temperature for extended periods
Extracted DNA: -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improperly labeled samples
  • Contaminated samples

Understanding Your Results

Results indicate the presence or absence of mutations in the SMS gene. Genetic counseling is recommended to understand implications.
📊

Pathogenic variant detected

Diagnosis of Snyder-Robinson Syndrome confirmed

📊

No pathogenic variant detected

Condition unlikely, but clinical correlation advised

📊

Variant of uncertain significance

Further testing and counseling recommended

⚠️ When to Consult a Doctor:

If symptoms such as intellectual disability, seizures, or muscle weakness are present, or if there is a family history of genetic disorders.

Limitations

  • ⚠May not detect all possible mutations
  • ⚠Limited to known variants in the SMS gene
  • ⚠Does not rule out other genetic causes

Risks & Considerations

  • ●Minimal physical risks from blood draw
  • ●Psychological impact of genetic results
  • ●Potential for incidental findings

Interfering Factors

  • ●Sample contamination
  • ●DNA degradation
  • ●Recent blood transfusion
  • ●Hemolysis

Compare With Similar Tests

TestSMS Gene Mental retardation, X-linked, Snyder-Robinson type NGS Genetic Test
ComparisonSMS Gene Mental retardation, X-linked, Snyder-Robinson type NGS Genetic Test

Frequently Asked Questions

What is SMS Gene Mental Retardation, Snyder-Robinson Type?
It is a rare X-linked genetic disorder caused by mutations in the SMS gene, leading to intellectual disabilities and other symptoms.
Who should get this NGS genetic test?
Individuals with symptoms like intellectual disability, seizures, or family history of the disorder, and suspected female carriers.
How is the test performed?
A blood sample is collected and analyzed using Next-Generation Sequencing to detect mutations in the SMS gene.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India, with potential discounts for online bookings.
Is home sample collection available?
Yes, free home sample collection is available in many cities across India for this test.
How long does it take to get results?
Results are typically delivered within 3 to 4 weeks after sample collection.
What do the results mean?
Results indicate if pathogenic variants are detected in the SMS gene, confirming diagnosis, or if no variants are found, suggesting the condition is unlikely.
Is genetic counseling provided?
Yes, genetic counseling is recommended before and after the test to discuss family history and interpret results.
Can females be carriers of this condition?
Yes, females can be carriers of the X-linked mutation and may have mild symptoms or be asymptomatic.
What are the treatment options for Snyder-Robinson Syndrome?
There is no cure, but management focuses on supportive care, therapies for symptoms, and genetic counseling for families.
Is the test covered by insurance?
Coverage depends on insurance plans; it is generally not covered by government schemes like PMJAY or CGHS, but check with private insurers.
How accurate is the NGS test?
NGS is highly accurate for detecting known mutations, but limitations exist for novel variants; accuracy is supported by state-of-the-art technology.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference Laboratory Services

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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Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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