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GDI1 Gene Mental retardation, X-linked type 41 NGS Genetic Test

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GDI1 Gene Mental retardation, X-linked type 41 NGS Genetic Test

Short Name: GDI1 MRX41 NGS Test

Also known as: GDI1 Gene MRX41 Genetic Test, X-linked intellectual disability type 41 NGS Test, GDI1 Mutation Analysis

GDI1 Gene Mental retardation, X-linked type 41 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 Reports are available in 3 to 4 weeks from sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic TestMaleAll Ages🏠 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

The purpose of this NGS genetic test is to detect pathogenic mutations in the GDI1 gene, confirm a clinical diagnosis of X-linked mental retardation type 41, identify at-risk family members, inform treatment and behavioral management, and support reproductive risk counselling.

Test Code
4276
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are available in 3 to 4 weeks from sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Ensure the clinical history and genetic counselling form are completed, including a pedigree chart of affected family members.

Method: Blood draw / FTA card spot / DNA sample submission

Step 2

Laboratory Analysis

Blood is drawn into an EDTA vacutainer by standard venipuncture, or one drop of blood is collected on an FTA card, or extracted DNA is submitted per laboratory protocol.

Step 3

Report Delivery

Samples should be stored at ambient temperature or refrigerated as appropriate and transported to the laboratory within 72 hours.

Timeline: Reports are available in 3 to 4 weeks from sample receipt.

Patient Instructions

1
Before the Test:Complete clinical history and genetic counselling session are required before the sample is collected.
2
During the Test:The testing process involves DNA extraction, NGS library preparation, sequencing, and bioinformatics analysis.
3
After the Test:A clinical report is generated within 3 to 4 weeks and delivered online/email. Raw data files will also be shared.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to detect pathogenic mutations in the GDI1 gene, confirm a clinical diagnosis of X-linked mental retardation type 41, identify at-risk family members, inform treatment and behavioral management, and support reproductive risk counselling.

How to Prepare

  • Complete the test request form and patient history
  • Attend genetic counselling session for family pedigree
  • Sample collection can be arranged by free home collection across major Indian cities

Doctor's Notes

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

"Early genetic diagnosis in a family with intellectual disability can provide recurrence risk estimation and guide reproductive planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per collection protocol
ContainerEDTA vacutainer or FTA card
Collection MethodBlood draw / FTA card spot / DNA sample submission

Sample Stability

Blood sample: stable in EDTA at room temperature for up to 24 hours
DNA: stable for months at 2-8°C
FTA card: stable for years at room temperature
Sample Rejection Criteria:
  • Clotted haemolysed blood sample
  • Improperly labelled sample
  • Insufficient sample quantity
  • Overnight sample sent without cooling
  • Samples with evidence of microbial contamination

Understanding Your Results

The clinical report will state whether a pathogenic or likely pathogenic GDI1 variant is identified. The result is interpreted in the context of clinical features, family history, and ACMG guidelines.
📊

Result type: Positive / Pathogenic variant

📊

Result type: Negative / No pathogenic variant

📊

Result type: Variant of Uncertain Significance (VUS)

⚠️ When to Consult a Doctor:

Seek medical advice before and after testing, especially if the patient has unexplained intellectual disability, developmental delay, or a family history of X-linked mental retardation.

Limitations

  • ⚠This NGS test is targeted to the GDI1 gene and does not rule out mutations in other genes associated with intellectual disability.
  • ⚠Large genomic deletions or rearrangements may not be reliably detected by standard NGS and may require additional assays.
  • ⚠Deep intronic variants are not covered by this test.
  • ⚠A negative GDI1 result does not exclude a genetic cause of intellectual disability.

Risks & Considerations

  • ●There are no significant risks; blood draw may cause a small bruise
  • ●Potential anxiety related to test results
  • ●Reproductive decision-making implications

Interfering Factors

  • ●Contaminated or degraded DNA
  • ●Incorrect sample collection or storage
  • ●Maternal cell contamination (for blood samples in transplant cases)

Compare With Similar Tests

TestGDI1 Gene Mental retardation, X-linked type 41 NGS Genetic Test
ComparisonGDI1 Gene Mental retardation, X-linked type 41 NGS Genetic Test

Frequently Asked Questions

What is the GDI1 gene test?
This is an NGS-based genetic test that detects mutations in the GDI1 gene associated with X-linked mental retardation type 41.
What is X-linked mental retardation type 41?
It is a genetic disorder caused by mutations in the GDI1 gene, leading to moderate to severe intellectual disability, speech delay, behavioural problems, and other neurological features in males.
Who should undergo this genetic test?
Male individuals with unexplained intellectual disability, those with suspected X-linked inheritance, and families with a history of X-linked mental retardation. Female carriers may also consider testing.
What symptoms are associated with GDI1 gene mutations?
Common symptoms include moderate to severe intellectual disability, delayed speech and language development, hyperactivity, aggressiveness, motor skill difficulties, and seizures.
How is the NGS genetic test performed?
DNA is extracted from the sample, enriched for the GDI1 gene, and sequenced using next-generation sequencing. Bioinformatic analysis detects and classifies variants.
What sample is required for the GDI1 gene test?
The test accepts blood (2-3 ml in EDTA), extracted DNA, or one drop of blood on an FTA card.
How long does it take to get the report?
The report is delivered within 3 to 4 weeks from the date the sample is received at the laboratory.
Is fasting required before the test?
No, fasting is not required. The sample can be collected at any time of day.
What does a positive result mean?
A positive result means a pathogenic or likely pathogenic variant was identified in the GDI1 gene, confirming the diagnosis of X-linked mental retardation type 41.
What does a negative result mean?
A negative result means no pathogenic variant was found in the GDI1 gene. This does not rule out intellectual disability due to other genes or causes.
What is the cost of the GDI1 gene test in India?
The test costs INR 20,000 at DNA Labs India, with free home collection available in over 200 cities.
Does DNA Labs India provide raw data with the report?
Yes, DNA Labs India is the only lab that transparently shares raw data files (FASTQ, VCF) along with the conclusive clinical report.
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

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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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