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IQCE Gene Autism, IQCE Related NGS Genetic Test

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IQCE Gene Autism, IQCE Related NGS Genetic Test

Short Name: IQCE Gene NGS

Also known as: IQCE Gene Sequencing, IQCE Autism NGS Panel, IQCE Gene Mutation Test

IQCE Gene Autism, IQCE 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 The test report is typically available within 3 to 4 weeks from the date the sample is received at the laboratory. In urgent cases, a preliminary report may be issued earlier; however, the final comprehensive report takes the full turnaround time.. 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

The purpose of this NGS genetic test is to detect pathogenic or likely pathogenic variants in the IQCE gene that may contribute to autism spectrum disorder, intellectual disability, epilepsy, or other related neurodevelopmental conditions. Identification of a molecular cause can help confirm the clinical diagnosis, guide anticipatory care, enable accurate recurrence risk counselling for families, and inform future reproductive decisions.

Test Code
3919
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
The test report is typically available within 3 to 4 weeks from the date the sample is received at the laboratory. In urgent cases, a preliminary report may be issued earlier; however, the final comprehensive report takes the full turnaround time.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A valid insurance card or identification may be needed. If the patient is already on medications, a status update to the clinician is recommended. A genetic counselling session is provided before sample collection to draw a pedigree chart and discuss the risks and benefits of the test.

Method: Venipuncture (blood) / FTA spot collection / DNA sample submission

Step 2

Laboratory Analysis

For blood collection, a trained phlebotomist will draw a small amount of blood (about 3-5 ml) from a vein in the arm. For FTA card, one drop of blood from a finger prick is applied to the designated paper card. The procedure is safe and takes only a few minutes.

Step 3

Report Delivery

Patient may resume normal activities immediately. The sample will be transported to the laboratory at controlled temperature. Outstation samples are packed according to international courier guidelines to ensure stability. Reports will be shared in 3 to 4 weeks.

Timeline: The test report is typically available within 3 to 4 weeks from the date the sample is received at the laboratory. In urgent cases, a preliminary report may be issued earlier; however, the final comprehensive report takes the full turnaround time.

Patient Instructions

1
Before the Test:A pre-test genetic counselling session is included. During this session, the clinical geneticist will draw a three-generation pedigree, discuss the pattern of inheritance, explain potential results, and address any questions. Consent is obtained before the test.
2
During the Test:The test involves DNA sequencing using NGS technology. No special precautions are needed during the test itself. For home collection, a healthcare professional will visit your house as scheduled.
3
After the Test:After the sample reaches the laboratory, the DNA is extracted, sequenced, and analysed. A clinical geneticist will prepare the report. Post-test genetic counselling is offered to explain the results, implications for the family, and next steps.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to detect pathogenic or likely pathogenic variants in the IQCE gene that may contribute to autism spectrum disorder, intellectual disability, epilepsy, or other related neurodevelopmental conditions. Identification of a molecular cause can help confirm the clinical diagnosis, guide anticipatory care, enable accurate recurrence risk counselling for families, and inform future reproductive decisions.

How to Prepare

  • For blood sample, use an EDTA vacutainer and ensure proper mixing.
  • For FTA card, allow the blood spot to dry completely before packing.
  • If providing extracted DNA, ensure it is in a sterile, labeled microcentrifuge tube.
  • Sample must be labeled with patient name and unique ID.
  • For home sample collection, the phlebotomist will carry all necessary collection supplies.

Doctor's Notes

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

"Genetic testing for autism spectrum disorder is a step toward personalised care. A definitive molecular diagnosis can aid in recurrence risk counselling, targeted surveillance, and family planning. Home collection and NGS technology make this once-complex test accessible, but results should always be interpreted by a clinical geneticist in the context of the full clinical picture."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per sample type (one EDTA tube / one FTA spot / 2-3 µg DNA)
ContainerEDTA vacutainer (blood) / FTA Card / DNA elution tube
Collection MethodVenipuncture (blood) / FTA spot collection / DNA sample submission

Sample Stability

Whole blood (EDTA): 5-7 days at 2-8°C; do not freeze.
FTA card: stable for weeks at room temperature when stored dry.
Extracted DNA: stable for months at -20°C to -80°C.
Sample Rejection Criteria:
  • Hemolysed blood sample
  • Clotted blood sample in EDTA tube
  • Improperly labelled sample
  • Leaked or damaged sample container
  • FTA card with wet/contaminated spots

Understanding Your Results

Interpretation of the IQCE Gene Autism NGS Genetic Test is performed by consultant clinical geneticists. The report includes a detailed analysis of each identified variant, its pathogenicity classification in accordance with ACMG/AMP guidelines, and a clinical summary with recommendations for patient management and family testing.
Positive result (pathogenic/likely pathogenic variant): Confirms the molecular diagnosis in the appropriate clinical context; enables targeted management, surveillance, and recurrence risk counselling.
Negative result (no pathogenic variant): Does not exclude a genetic cause; other genes or non-genetic aetiologies should be considered. Further testing or reanalysis may be recommended.
Variant of uncertain significance (VUS): The variant is currently of unknown clinical significance; family segregation studies, in-silico tools, and additional functional evidence may help reclassify it.
Benign/likely benign variant: Indicates absence of association with the condition; no clinical action required.
⚠️ When to Consult a Doctor:

If your child or a family member has been diagnosed with autism spectrum disorder, intellectual disability, unexplained epilepsy, or a neurodevelopmental delay, consult a clinical geneticist for evaluation. The geneticist may recommend IQCE gene testing as part of the diagnostic workup. Also consult your doctor if you have a family history of IQCE-related conditions and are planning a pregnancy.

Risks & Considerations

  • ●No significant physical risks are associated with blood collection except minor bruising or faintness.
  • ●Psychological impact of the test result on the family.
  • ●Possibility of finding variants of uncertain significance that may require additional investigation.

Interfering Factors

  • ●Poor DNA quality or quantity
  • ●Cross-contamination of samples
  • ●Incomplete sequencing coverage due to high GC content
  • ●Presence of large deletions/duplications undetectable by standard NGS
  • ●Variants in non-coding regions outside the sequencing target

Compare With Similar Tests

TestIQCE Gene Autism, IQCE Related NGS Genetic TestIQCE Gene Targeted NGSAutism Spectrum Disorder NGS PanelWhole Exome Sequencing
ComparisonIQCE Gene Autism, IQCE Related NGS Genetic Test

Frequently Asked Questions

What is the IQCE gene and how is it related to autism?
The IQCE gene is located on chromosome 7 and encodes a protein involved in ciliary function and neuronal development. Mutations in this gene have been linked to intellectual disability, epilepsy, and autism spectrum disorder. NGS-based testing can identify pathogenic variants in IQCE.
Who should undergo the IQCE Gene Autism NGS Genetic Test?
This test is indicated for individuals with a clinical diagnosis of autism spectrum disorder, intellectual disability, epilepsy with neurodevelopmental features, or for those with a family history of IQCE-related mutations. It may also be used for confirmatory diagnostic testing following a previous unclear genetic result.
What is the cost of the IQCE Gene Autism NGS Genetic Test at DNA Labs India?
The special discounted price for the IQCE Gene Autism NGS Genetic Test is INR 20,000 across India. This includes free home sample collection and access to raw data files (FASTQ and VCF) in addition to the clinical report.
What type of samples are accepted for this test?
The test accepts venous blood collected in an EDTA tube, extracted DNA samples, or one drop of blood placed on an FTA card. The sample type should be discussed with the clinical team before collection.
Is fasting required before sample collection?
No, fasting is not required for this genetic test. The sample can be taken at any time of the day. However, the patient should be relaxed and hydrated.
How long does it take to get the test report?
The report is generally available within 3 to 4 weeks. The duration may vary depending on the completeness of the clinical information, sample quality, and any confirmatory tests.
What is Next-Generation Sequencing (NGS) technology?
Next-generation sequencing is a high-throughput method that can sequence multiple genes or even the entire exome in one run. It allows simultaneous analysis of many genes with high sensitivity and is ideal for finding point mutations and small insertions/deletions in genes like IQCE.
Does this NGS test detect all genetic causes of autism?
No. Autism is genetically heterogeneous. While this test specifically examines the IQCE gene, it does not screen all genes implicated in autism. Other genetic and non-genetic factors can contribute to ASD. A broader panel or exome sequencing may be considered if clinically indicated.
What information will my test report contain?
The report includes functional status of the IQCE gene, any identified variants, their pathogenicity classification as per ACMG guidelines, clinical interpretation, and recommendations. It also provides raw data files (FASTQ and VCF) for transparency and future reference.
Will insurance cover the cost of this genetic test?
Insurance coverage for genetic testing varies among policies. Most Indian insurance plans do not cover outpatient genetic testing without pre-authorisation. It is recommended to check with your insurance provider. DNA Labs India does not include insurance billing for this test.
How do I provide a home sample collection?
After booking, a trained phlebotomist will visit your residence or office at a scheduled time. The sample is collected in a safe manner, transported to the laboratory, and reports are shared digitally. Please ensure your contact details are accurate.
Can this test be performed for children?
Yes, the IQCE Gene Autism NGS Genetic Test is suitable for children of any age. For young children, a blood sample can be collected using appropriate pediatric techniques, or an FTA card sample can be obtained with a gentle heel or finger prick.
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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