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DNA Labs India

FGD1 Gene Mental retardation, X-linked type 16 NGS Genetic Test

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FGD1 Gene Mental retardation, X-linked type 16 NGS Genetic Test

Short Name: FGD1 MRX16 NGS Test

Also known as: MRX16, FGD1-related intellectual disability, X-linked mental retardation 16

FGD1 Gene Mental retardation, X-linked type 16 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.

NGS Genetic Test🏠 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 detect pathogenic mutations in the FGD1 gene responsible for X-linked mental retardation type 16, aiding in diagnosis, genetic counseling, and management of affected individuals and families.

Test Code
1696
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

Consult with a genetic counselor for pre-test counseling and informed consent.

Method: Venipuncture

Step 2

Laboratory Analysis

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

Step 3

Report Delivery

The sample will be labeled, processed, and sent to the laboratory for NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test purpose, implications, and obtain informed consent.
2
During the Test:Blood draw procedure, which is typically quick and minimally invasive.
3
After the Test:Sample processing in the laboratory, with results available in 3 to 4 weeks.

About This Test

Who Should Get This Test

To detect pathogenic mutations in the FGD1 gene responsible for X-linked mental retardation type 16, aiding in diagnosis, genetic counseling, and management of affected individuals and families.

How to Prepare

  • Ensure proper patient identification and labeling
  • Use aseptic technique to avoid contamination
  • Collect blood in appropriate tubes (e.g., EDTA for whole blood)
  • Transport samples at room temperature unless specified otherwise

Doctor's Notes

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

"This NGS test is essential for identifying genetic causes of intellectual disability, enabling targeted management and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture

Sample Stability

Whole blood stable for 48 hours at 2-8°C
Extracted DNA stable for several days when stored properly
FTA card samples stable at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrectly labeled or unlabeled specimens
  • Contaminated samples

Understanding Your Results

Results are interpreted by clinical geneticists. A positive result indicates a mutation in the FGD1 gene, which may explain the clinical presentation, while a negative result suggests MRX16 is less likely.
📊

Pathogenic variant detected

Confirms a diagnosis of MRX16. Genetic counseling is recommended for family management and planning.

📊

No pathogenic variant detected

MRX16 is unlikely, but other genetic or non-genetic causes should be considered. Clinical follow-up is advised.

📊

Variant of uncertain significance (VUS)

Further testing, family studies, and clinical correlation are needed to determine pathogenicity.

⚠️ When to Consult a Doctor:

After receiving test results, consult with a neurologist or geneticist for interpretation, management strategies, and family planning advice.

Limitations

  • ⚠May not detect deep intronic mutations or large rearrangements
  • ⚠Mosaicism may not be fully identified
  • ⚠Results require clinical correlation and genetic counseling
  • ⚠False negatives can occur, though rare with NGS

Risks & Considerations

  • ●Minimal physical risks from blood draw, such as bruising or discomfort
  • ●Psychological impact of genetic diagnosis on individuals and families
  • ●Potential for variants of uncertain significance causing anxiety
  • ●Risk of incidental findings unrelated to MRX16

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Technical errors during sequencing or analysis

Compare With Similar Tests

TestFGD1 Gene Mental retardation, X-linked type 16 NGS Genetic Test
ComparisonFGD1 Gene Mental retardation, X-linked type 16 NGS Genetic Test

Frequently Asked Questions

What is the FGD1 Gene MRX16 NGS Test?
It is a genetic test using Next Generation Sequencing to detect mutations in the FGD1 gene, which is associated with X-linked mental retardation type 16, a condition causing intellectual disability.
Who should consider this test?
Individuals with intellectual disability of unknown cause, family history of X-linked intellectual disability, or symptoms like delayed speech, seizures, or physical abnormalities suggestive of MRX16.
How is the test performed?
A blood sample is collected and analyzed using NGS technology to sequence the FGD1 gene and identify any mutations.
What is the cost of the FGD1 Gene MRX16 NGS Test in India?
The test costs INR 20,000, which includes genetic counseling, sample collection, and report generation.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across many cities in India.
How long does it take to get the results?
Results are typically delivered within 3 to 4 weeks after sample collection.
What do a positive test result indicate?
A positive result indicates a pathogenic mutation in the FGD1 gene, confirming a diagnosis of MRX16 and guiding management and genetic counseling.
Is the test accurate?
Yes, NGS is a highly accurate and sensitive method for genetic testing, but no test is 100% foolproof; clinical correlation is always recommended.
Are there any risks associated with the test?
Risks are minimal, mainly related to blood draw, but there may be psychological implications from the diagnosis or variants of uncertain significance.
Can this test be used for carrier testing?
Yes, it can help identify carriers of FGD1 mutations in families with a history of MRX16, aiding in family planning.
What is the significance of a variant of uncertain significance?
A VUS means the mutation's pathogenicity is unclear; further testing and family studies are needed to determine its role in the condition.
How does this test help in treatment planning?
While there is no cure for MRX16, early diagnosis allows for tailored interventions, supportive therapies, educational strategies, and genetic counseling for families.
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.

LIMS Integration

Your Data Privacy

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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