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IGF1 Gene Growth retardation with deafness and mental retardation due to IGF1 deficiency NGS Genetic Test

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IGF1 Gene Growth retardation with deafness and mental retardation due to IGF1 deficiency NGS Genetic Test

Short Name: IGF1 Deficiency NGS Test

Also known as: IGF1 Gene Test, IGF1 Deficiency Genetic Test, Growth Retardation NGS Test

IGF1 Gene Growth retardation with deafness and mental retardation due to IGF1 deficiency 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.

PediatricsPediatric🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to diagnose IGF1 deficiency by detecting pathogenic variants in the IGF1 gene through next-generation sequencing, aiding in clinical management and genetic counseling.

Test Code
5752
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 to discuss test implications and obtain informed consent. Provide clinical history and family pedigree.

Method: Venipuncture or Finger Prick

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture or finger prick. Ensure proper labeling and handling.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store samples as instructed and await report delivery.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Schedule a genetic counseling session to understand the test's implications and provide informed consent.
2
During the Test:A blood sample is collected; the procedure is minimally invasive and takes about 10-15 minutes.
3
After the Test:Wait for 3-4 weeks for results. Follow up with a healthcare provider for interpretation and management.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose IGF1 deficiency by detecting pathogenic variants in the IGF1 gene through next-generation sequencing, aiding in clinical management and genetic counseling.

How to Prepare

  • Fast for 4-6 hours if specified, though not mandatory
  • Avoid strenuous activity before collection
  • Bring identification and prescription

Doctor's Notes

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

"Early genetic diagnosis of IGF1 deficiency is essential for timely intervention, which can significantly improve growth outcomes and quality of life in affected children."

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
ContainerEDTA Tube or FTA Card
Collection MethodVenipuncture or Finger Prick

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods at -20°C
Sample Rejection Criteria:
  • Hemolyzed or lipemic samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the IGF1 gene. Positive findings confirm IGF1 deficiency, while negative results may require further testing.
📊

Pathogenic variant detected

Confirms diagnosis of IGF1 deficiency. Clinical management and genetic counseling recommended.

📊

Variant of uncertain significance (VUS)

Further testing and family studies may be needed for clarification.

📊

No pathogenic variant detected

IGF1 deficiency unlikely, but clinical correlation is advised if symptoms persist.

⚠️ When to Consult a Doctor:

If a child exhibits symptoms such as growth retardation, deafness, or developmental delays, or if there is a family history of IGF1 deficiency.

Limitations

  • May not detect all genetic variants, including deep intronic mutations
  • Results require clinical correlation and genetic counseling
  • Does not rule out other genetic causes of similar symptoms

Risks & Considerations

  • Minor pain or bruising at the blood draw site
  • Rare risk of infection
  • Psychological impact of genetic results

Interfering Factors

  • Sample contamination
  • Improper sample storage or handling
  • Hemolyzed blood samples
  • Recent blood transfusions

Compare With Similar Tests

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ComparisonIGF1 Gene Growth retardation with deafness and mental retardation due to IGF1 deficiency NGS Genetic Test

Frequently Asked Questions

What is IGF1 deficiency?
IGF1 deficiency is a genetic condition caused by mutations in the IGF1 gene, leading to reduced insulin-like growth factor 1 levels, which can result in growth retardation, deafness, and mental retardation.
What are the common symptoms of IGF1 deficiency?
Symptoms include growth retardation, delayed bone age, deafness, mental retardation, delayed puberty, hypoglycemia, and a high-pitched voice.
How is IGF1 deficiency diagnosed?
Diagnosis involves physical exams, blood tests for hormone levels, and genetic testing such as NGS to identify mutations in the IGF1 gene.
What is the cost of the IGF1 Gene NGS Genetic Test?
The test costs INR 20000 in India, which may vary slightly by location and includes sample collection and analysis.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across India for online bookings.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What sample types are accepted for this test?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted.
Do I need to fast before the test?
Fasting is not required for this genetic test.
What should I do if the test results are positive?
Consult a healthcare provider or genetic counselor for management options, which may include growth hormone therapy.
Can this test be used for prenatal diagnosis?
This test is typically for postnatal diagnosis; prenatal testing may require different methods and genetic counseling.
Is genetic counseling necessary before the test?
Yes, genetic counseling is recommended to understand the implications, draw a family pedigree, and provide informed consent.
What is the accuracy of NGS for detecting IGF1 mutations?
NGS is highly accurate for detecting genetic variants, but results should be interpreted in clinical context, and some variants may be of uncertain significance.
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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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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