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EIF4E Gene Autism Susceptibility, Type 19 NGS Genetic Test

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EIF4E Gene Autism Susceptibility, Type 19 NGS Genetic Test

Short Name: EIF4E Type 19 NGS

Also known as: Autism Susceptibility 19, AUTS19, EIF4E Gene Mutation Analysis, EIF4E Autism Susceptibility NGS Test

EIF4E Gene Autism Susceptibility, Type 19 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 generally available within 3–4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

Next-Generation Sequencing (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 sequence variants in the EIF4E gene that are associated with autism susceptibility type 19 (AUTS19) using next-generation sequencing, thereby informing risk assessment, clinical management, and family planning.

Test Code
3911
CPT Code
Not specified
ICD Code
Not specified
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are generally available within 3–4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A genetic counseling session is recommended before sample collection to draw a three-generation pedigree and to explain the possible implications of the test.

Method: Venipuncture or finger-prick blood spot on FTA card

Step 2

Laboratory Analysis

A small blood sample is collected from a vein, or one drop of blood is placed on an FTA card. The procedure is quick and generally tolerable.

Step 3

Report Delivery

No special precautions are required. You can resume your normal diet and activities immediately.

Timeline: Reports are generally available within 3–4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:No special preparation is required. However, a genetic counselling session is strongly advised before the test to discuss the purpose, possible outcomes, and limitations of genetic testing for autism susceptibility.
2
During the Test:A small blood sample or dried blood spot will be collected and sent to the laboratory for DNA extraction and next-generation sequencing of the EIF4E gene.
3
After the Test:The results will be shared by the ordering physician or genetic counsellor. Genetic counselling is recommended for all positive, negative, and uncertain results.

About This Test

Who Should Get This Test

To detect sequence variants in the EIF4E gene that are associated with autism susceptibility type 19 (AUTS19) using next-generation sequencing, thereby informing risk assessment, clinical management, and family planning.

How to Prepare

  • Bring the filled requisition form and a valid photo ID.
  • Ensure the sample tube or FTA card is correctly labelled with your name and unique barcode.
  • If using an FTA card, allow the blood spot to dry before placing it in the protective sleeve.
  • If providing extracted DNA, ensure it is in a sterile, labelled DNA tube.
  • Communicate any known bleeding disorder or anticoagulant use to the collecting technician.

Doctor's Notes

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

"A suspicion of autism spectrum disorder should first be evaluated by a developmental specialist or a neurologist. This genetic test is best used after comprehensive clinical assessment and genetic counseling, and the result should always be interpreted in the context of the whole person."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeNot specified
ContainerEDTA vacutainer, FTA card, or sterile DNA tube
Collection MethodVenipuncture or finger-prick blood spot on FTA card

Sample Stability

FTA card blood spot: stable at room temperature if kept dry and protected from humidity.
Extracted DNA: store refrigerated or frozen as per laboratory instructions.
Whole blood in EDTA: transport to the laboratory as soon as possible; cool during transport if delay is expected.
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Mislabeled or unlabelled sample
  • Insufficient quantity for DNA extraction
  • Sample received in an improper container (e.g. heparin tube if EDTA was required)
  • Sample leaking from the container

Understanding Your Results

The report will be interpreted by a clinical geneticist in the context of the patient's clinical features, family history, and the results of other evaluations. A positive test does not by itself confirm autism; it indicates a potential susceptibility variant.
Negative / No pathogenic variant detected: No clinically significant variant found in the analyzed regions of EIF4E. This reduces but does not eliminate the possibility of EIF4E-related susceptibility.
Positive / Pathogenic or likely pathogenic variant detected: Supports the presence of an EIF4E-related susceptibility allele. Genetic counseling is strongly advised.
Variant of uncertain significance (VUS): The variant is not currently classified as disease-causing. No direct clinical action should be based solely on this result.
Benign or likely benign variant: No association with autism susceptibility based on current evidence.
⚠️ When to Consult a Doctor:

If a child or adult shows features suggestive of autism spectrum disorder—such as delayed speech, poor eye contact, repetitive movements, or intense resistance to change—consult a developmental paediatrician, psychiatrist, or neurologist for a formal evaluation.

Limitations

  • ⚠This single-gene test does not assess other genes associated with autism spectrum disorder
  • ⚠A negative result does not exclude a genetic or non-genetic cause of autism
  • ⚠Variant classification may change as new scientific evidence emerges
  • ⚠The test does not measure EIF4E protein expression or function
  • ⚠Copy-number variants and structural rearrangements are not reliably detected unless specifically requested

Risks & Considerations

  • ●Minimal risk from blood draw, including slight pain, bruising, or rarely infection
  • ●Psychological impact of receiving a genetic variant result

Interfering Factors

  • ●Poor DNA quality or quantity
  • ●Sample contamination during collection or handling
  • ●Incomplete gene coverage due to technical limitations
  • ●Very large deletions or structural rearrangements may not be reliably detected by standard NGS
  • ●DNA sample mix-up or incorrect labelling

Compare With Similar Tests

TestEIF4E Gene Autism Susceptibility, Type 19 NGS Genetic TestFMR1 Gene Fragile X Syndrome Genetic TestChromosomal Microarray (CMA) Test for Autism Spectrum DisorderMECP2 Gene Rett Syndrome Genetic TestAutism/ASD Multi-Gene NGS Panel
ComparisonEIF4E Gene Autism Susceptibility, Type 19 NGS Genetic Test

Frequently Asked Questions

What is the EIF4E Gene Autism Susceptibility Type 19 NGS Genetic Test?
It is a targeted next-generation sequencing test that analyzes the EIF4E gene for sequence variants that have been associated with autism susceptibility type 19 (AUTS19). The test is offered by DNA Labs India at a cost of Rs 20,000.
How is the EIF4E gene connected to autism?
The EIF4E gene provides instructions for making eukaryotic translation initiation factor 4E, a protein involved in protein synthesis. Changes in EIF4E can alter synaptic protein translation during neural development, which may increase susceptibility to autism. The exact biological pathway is still an active area of research.
Who should consider this test?
This test may be considered when a clinician such as a neurologist, developmental paediatrician, or clinical geneticist suspects that an EIF4E gene variant may contribute to autism symptoms. It is not recommended as a routine screening test for all children. Genetic counseling before testing is advised.
What is the cost of this test at DNA Labs India?
The special discounted price is INR 20,000. DNA Labs India also offers free home sample collection for online bookings in major cities across India.
What sample is needed for this test?
The test can be performed on a small blood sample, an extracted DNA sample, or one drop of blood collected on an FTA card. The choice of sample type can be discussed with the laboratory.
Do I need to fast before the test?
No, fasting is not required. You can eat and drink normally unless the ordering doctor gives other instructions.
How long will it take to get the results?
Results are usually reported within 3–4 weeks after the sample is received. The exact time may vary depending on lab workload and sample quality.
Can this test diagnose autism?
No. Autism is diagnosed clinically by a team of specialists using behavioral assessment and developmental history. This genetic test looks only for EIF4E gene variants that may increase susceptibility, so it is an adjunct to—not a replacement for—a clinical diagnosis.
What does a positive result mean?
A positive result means that a pathogenic or likely pathogenic variant is present in the EIF4E gene. It does not mean a person will definitely develop autism, but indicates an increased risk. The result should be interpreted by a clinical geneticist after genetic counseling.
What does Type 19 mean in the test name?
Type 19 refers to the classification autism susceptibility 19 (AUTS19), which was assigned as a subtype of autism susceptibility linked to the EIF4E gene locus.
Is home sample collection available?
Yes, for online bookings DNA Labs India offers free home sample collection in cities such as Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, Jaipur, Ahmedabad, and many others across India.
Is genetic counseling part of the test?
The information before the test states that a genetic counseling session should be performed to draw a pedigree chart of family members affected with EIF4E-related autism susceptibility. It is recommended that the patient and family meet a genetics professional before and after the test to understand the results and implications.
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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