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SHROOM4 Gene Stocco dos Santos X-linked mental retardation syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

SHROOM4 Gene Stocco dos Santos X-linked mental retardation syndrome NGS Genetic Test

Short Name: SHROOM4 Gene Test

Also known as: SHROOM4 gene disorder, Stocco dos Santos syndrome

SHROOM4 Gene Stocco dos Santos X-linked mental retardation 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.

Next-Generation Sequencing (NGS)🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To diagnose Stocco dos Santos X-linked mental retardation syndrome by identifying pathogenic variants in the SHROOM4 gene using next-generation sequencing technology, enabling informed clinical decisions and family counseling.

Test Code
4584
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)
Step 1

Sample Collection

Provide clinical history and undergo genetic counseling to discuss test implications.

Method: Venipuncture or DNA extraction

Step 2

Laboratory Analysis

A blood sample will be drawn by a trained phlebotomist using standard venipuncture techniques.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising and follow any specific instructions from the healthcare provider.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Undergo genetic counseling to discuss the test's purpose, implications, and family history.
2
During the Test:Sample collection and processing in the laboratory using NGS technology for gene analysis.
3
After the Test:Receive the clinical report and consult with a healthcare provider to interpret results and plan next steps.

About This Test

Who Should Get This Test

To diagnose Stocco dos Santos X-linked mental retardation syndrome by identifying pathogenic variants in the SHROOM4 gene using next-generation sequencing technology, enabling informed clinical decisions and family counseling.

How to Prepare

  • Bring identification and prescription
  • Inform about any medications or health conditions
  • Ensure sample is properly labeled

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic counseling is crucial for families affected by X-linked mental retardation syndromes to understand inheritance patterns and risks."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL of blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or DNA extraction

Sample Stability

Room temperature24 hours
Refrigerated7 days
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Incorrect labeling
  • Contaminated sample

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the SHROOM4 gene associated with Stocco dos Santos syndrome, guiding diagnosis and management.
📊

Positive

Pathogenic variant detected, consistent with diagnosis of Stocco dos Santos syndrome

📊

Negative

No pathogenic variants detected, but clinical correlation is needed as symptoms may be due to other causes

📊

Variant of uncertain significance

Further testing, family studies, or clinical follow-up recommended

⚠️ When to Consult a Doctor:

If symptoms such as intellectual disability, seizures, or developmental delays are present, or if there is a family history of X-linked mental retardation, consult a geneticist or neurologist promptly.

Limitations

  • ⚠May not detect all types of genetic variants
  • ⚠Results require clinical correlation
  • ⚠Does not rule out other genetic disorders

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of results, requiring support

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample type

Compare With Similar Tests

TestSHROOM4 Gene Stocco dos Santos X-linked mental retardation syndrome NGS Genetic TestWhole Exome SequencingKaryotyping
ComparisonSHROOM4 Gene Stocco dos Santos X-linked mental retardation syndrome NGS Genetic Test

Frequently Asked Questions

What is SHROOM4 Gene Stocco dos Santos Syndrome?
It is a rare X-linked genetic disorder caused by mutations in the SHROOM4 gene, leading to intellectual disability and other neurological symptoms.
What are the common symptoms of this syndrome?
Symptoms include mild to severe intellectual disability, delayed speech, behavioral problems, seizures, abnormal muscle tone, and facial features.
How is the syndrome diagnosed?
Diagnosis is confirmed through genetic testing, such as the NGS Genetic Test offered by DNA Labs India, which identifies SHROOM4 gene mutations.
What does the NGS Genetic Test involve?
The test uses next-generation sequencing to analyze the SHROOM4 gene for pathogenic variants from a blood or DNA sample.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India, with home sample collection available across India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the results mean?
A positive result indicates a pathogenic variant in SHROOM4, confirming diagnosis; negative means no variants detected, but clinical correlation is needed.
Is genetic counseling provided?
Yes, genetic counseling sessions are included to draw pedigree charts and discuss implications before and after testing.
Can the test be done for prenatal diagnosis?
This test is primarily for postnatal diagnosis; prenatal testing may require specialized consultation with a geneticist.
What are the limitations of the test?
The test may not detect all genetic variants, and results require clinical correlation; it does not rule out other disorders.
How accurate is the test?
The NGS Genetic Test is highly accurate for detecting known pathogenic variants in the SHROOM4 gene, but accuracy depends on sample quality and variant type.
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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✓ 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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