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FRMPD4 Gene Neurodevelopmental disorder, FRMPD4 related NGS Genetic Test

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FRMPD4 Gene Neurodevelopmental disorder, FRMPD4 related NGS Genetic Test

Short Name: FRMPD4 Gene Test

Also known as: FRMPD4-related neurodevelopmental disorder, FRMPD4 gene mutation disorder, FRMPD4 syndrome

FRMPD4 Gene Neurodevelopmental disorder, FRMPD4 related 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 3-4 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 identify pathogenic mutations in the FRMPD4 gene associated with neurodevelopmental disorders, aiding in accurate diagnosis, management planning, and genetic counseling for affected individuals and families.

Test Code
1769
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Genetic counseling session to discuss the test, obtain informed consent, and document clinical history and family pedigree.

Method: Venipuncture or Fingerstick

Step 2

Laboratory Analysis

Blood sample collected via venipuncture into EDTA tube or fingerstick onto FTA card, following sterile techniques.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Ensure proper sample labeling and transport at ambient temperature.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and informed consent. Provide clinical history and family information.
2
During the Test:Sample collection and laboratory processing using NGS technology.
3
After the Test:Report delivery via online portal, email, or WhatsApp, followed by genetic counseling if needed.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the FRMPD4 gene associated with neurodevelopmental disorders, aiding in accurate diagnosis, management planning, and genetic counseling for affected individuals and families.

How to Prepare

  • Avoid hemolysis during blood draw
  • Label sample with patient details and date
  • Use appropriate container based on sample type

Doctor's Notes

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

"Genetic testing is crucial for diagnosing rare neurodevelopmental disorders like FRMPD4-related conditions, enabling targeted interventions and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml of blood or equivalent DNA
ContainerEDTA Vacutainer or FTA Card
Collection MethodVenipuncture or Fingerstick

Sample Stability

Blood in EDTA: stable for 7 days at 2-8°C
Extracted DNA: stable for 6 months at -20°C
FTA Card: stable at room temperature for months if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Incorrect sample type or container
  • Improper labeling or documentation

Understanding Your Results

Results indicate the presence or absence of mutations in the FRMPD4 gene. A positive result supports the diagnosis of FRMPD4-related neurodevelopmental disorder, while a negative result may require further genetic evaluation.
Pathogenic variant detected: Confirms diagnosis and guides management; genetic counseling recommended
No variant detected: Reduces likelihood but does not exclude disorder; consider other genes or clinical assessment
Variant of uncertain significance: Requires family studies and clinical correlation; may need follow-up testing
⚠️ When to Consult a Doctor:

If you or your child exhibits symptoms such as intellectual disability, developmental delay, seizures, or behavioral issues, especially with a family history of neurodevelopmental disorders, consult a geneticist or neurologist promptly.

Limitations

  • ⚠May not detect all mutation types (e.g., large deletions or duplications)
  • ⚠Requires genetic counseling for proper interpretation
  • ⚠Variants of uncertain significance may necessitate further testing

Risks & Considerations

  • ●Minimal physical risks from blood draw (e.g., bruising)
  • ●Psychological impact of test results
  • ●Potential for incidental or uncertain findings requiring further investigation

Interfering Factors

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

Compare With Similar Tests

TestFRMPD4 Gene Neurodevelopmental disorder, FRMPD4 related NGS Genetic TestWhole Exome SequencingFragile X Syndrome Test
ComparisonFRMPD4 Gene Neurodevelopmental disorder, FRMPD4 related NGS Genetic TestCovers all genes, higher cost but more comprehensive for undiagnosed casesSpecific to FMR1 gene, commonly used for intellectual disability evaluation

Frequently Asked Questions

What is FRMPD4 Gene Neurodevelopmental Disorder?
It is a rare genetic condition caused by mutations in the FRMPD4 gene, affecting nervous system development and leading to symptoms like intellectual disability and seizures.
What are the symptoms of FRMPD4 gene disorder?
Common symptoms include intellectual disability, developmental delay, speech problems, seizures, and behavioral issues, with variable severity.
How is FRMPD4 gene disorder diagnosed?
Diagnosis involves genetic testing using next-generation sequencing (NGS) to identify mutations in the FRMPD4 gene, combined with clinical evaluation.
What is the cost of NGS genetic test for FRMPD4 in India?
The cost is approximately INR 20,000 at DNA Labs India, with free home sample collection available.
Is the test covered by insurance?
Genetic testing is not always covered by health insurance; check with your provider for coverage details.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
How long does it take to get the results?
Results are typically available in 3-4 weeks after sample collection.
Can the test be done at home?
Yes, free home sample collection is available for online bookings across many cities in India.
What are the limitations of the test?
It may not detect all mutation types, and variants of uncertain significance may require additional analysis.
How can I prepare for the test?
Genetic counseling is recommended before testing. Provide clinical history and ensure informed consent.
What should I do if the test is positive?
Consult a geneticist or neurologist for management options, genetic counseling, and family planning guidance.
Where can I get the test done in India?
DNA Labs India offers this test with home collection services in numerous cities; book online or contact for details.
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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