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DNA Labs India

EFHC2 Gene Mental retardation, x-linked, EFHC2 related NGS Genetic Test

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EFHC2 Gene Mental retardation, x-linked, EFHC2 related NGS Genetic Test

Short Name: EFHC2 Gene Mental Retardation Test

Also known as: Intellectual Disability, X-linked, EFHC2-related Mental Retardation, XLMR due to EFHC2 mutation

EFHC2 Gene Mental retardation, x-linked, EFHC2 related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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 EFHC2 gene associated with X-linked mental retardation, enabling accurate diagnosis, genetic counseling, and personalized management strategies for affected individuals and carriers.

Test Code
1700
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
NGS Technology
Step 1

Sample Collection

No special preparation required. Provide detailed clinical history and family pedigree as part of genetic counseling session.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

Blood sample collected by a trained phlebotomist using venipuncture or finger-prick for FTA card.

Step 3

Report Delivery

Sample is labeled, stored appropriately, and sent to the laboratory for DNA extraction and NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a neurologist or geneticist to determine test necessity. Undergo genetic counseling to understand implications and draw family pedigree.
2
During the Test:Simple blood draw or saliva sample collection, typically taking 10-15 minutes.
3
After the Test:Results are available in 3-4 weeks. Schedule a follow-up appointment with the referring specialist for result interpretation and next steps.

About This Test

Who Should Get This Test

To detect pathogenic mutations in the EFHC2 gene associated with X-linked mental retardation, enabling accurate diagnosis, genetic counseling, and personalized management strategies for affected individuals and carriers.

How to Prepare

  • Ensure proper patient identification and sample labeling
  • Avoid hemolysis by gentle handling of blood samples
  • Follow aseptic techniques to prevent contamination
  • For FTA card, apply one drop of blood and air-dry completely

Doctor's Notes

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

"Genetic testing for EFHC2 gene mutations is crucial for accurate diagnosis and personalized management of X-linked intellectual disability, enabling early intervention 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 Volume3-5 ml blood or equivalent DNA
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Blood samples stable for up to 7 days at room temperature (15-25°C)
DNA extracts stable for several months when stored at -20°C
Sample Rejection Criteria:
  • Insufficient sample volume or degraded DNA
  • Contaminated or improperly stored samples
  • Missing or inaccurate patient information or consent

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the EFHC2 gene, which are associated with X-linked mental retardation.
📊

Pathogenic variant detected

Confirms diagnosis of EFHC2-related mental retardation. Genetic counseling recommended for family planning and management. May guide targeted therapies or interventions.

📊

No pathogenic variant detected

EFHC2 gene mutation not found. Symptoms may be due to other genetic or environmental factors. Consider additional genetic tests or clinical evaluation.

📊

Variant of uncertain significance (VUS)

A genetic variant was found but its clinical significance is unknown. Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

If symptoms of intellectual disability, seizures, or developmental delays are present, or for genetic counseling after receiving test results. Also consult if family history suggests X-linked inheritance.

Limitations

  • ⚠Test may not detect all types of genetic variants (e.g., deep intronic mutations)
  • ⚠Results require interpretation by a qualified geneticist or neurologist
  • ⚠Cannot rule out other genetic or non-genetic causes of intellectual disability
  • ⚠Carrier status may not be fully assessed in all cases

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising, bleeding, or infection at the collection site
  • ●Psychological impact of results, requiring genetic counseling support

Interfering Factors

  • ●Sample contamination or degradation
  • ●Technical errors during DNA extraction or sequencing
  • ●Insufficient sample volume or quality

Compare With Similar Tests

TestEFHC2 Gene Mental retardation, x-linked, EFHC2 related NGS Genetic TestFMR1 Gene Test for Fragile X SyndromeIntellectual Disability Gene PanelChromosomal Microarray Analysis
ComparisonEFHC2 Gene Mental retardation, x-linked, EFHC2 related NGS Genetic TestTargets a different gene (FMR1) for a common cause of intellectual disability; may be recommended based on symptoms.Covers multiple genes including EFHC2, useful for comprehensive diagnosis when specific gene is unknown.Detects chromosomal abnormalities, not single-gene mutations; often used as a first-tier test for intellectual disability.

Frequently Asked Questions

What is the EFHC2 Gene Mental Retardation NGS Test?
It is a genetic test using Next-generation sequencing to detect mutations in the EFHC2 gene, which is associated with X-linked intellectual disability.
Why is this test recommended?
It is recommended for individuals with symptoms of intellectual disability, especially with a family history suggesting X-linked inheritance, to confirm diagnosis and guide management.
How is the test performed?
A blood or saliva sample is collected and analyzed in a laboratory using NGS technology to sequence the EFHC2 gene and identify mutations.
What sample is required for the test?
Blood (3-5 ml), extracted DNA, or one drop of blood on an FTA card can be used.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What is the cost of the EFHC2 Gene test?
The test costs INR 20,000 in India, with free home sample collection available.
Is home collection available for this test?
Yes, DNA Labs India offers free home sample collection across many cities in India.
What do the results mean if a mutation is detected?
A pathogenic mutation confirms EFHC2-related mental retardation, enabling genetic counseling and tailored interventions.
Can this test detect carrier status for females?
Yes, the test can identify mutations in females, who may be carriers with mild or no symptoms, aiding in family planning.
Is the test covered by insurance schemes like PMJAY or CGHS?
Coverage is not guaranteed; it's best to check with your insurance provider or scheme administrator for specific details.
How can I book the EFHC2 Gene test?
You can book online through DNA Labs India's website or contact their customer service for assistance with home collection or walk-in appointments.
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.

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