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CIC Gene Intellectual disability nonsyndromic, CIC related NGS Genetic Test

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CIC Gene Intellectual disability nonsyndromic, CIC related NGS Genetic Test

Short Name: CIC NGS Genetic Test

Also known as: CIC Gene Sequencing Test, CIC-Related Intellectual Disability Genetic Test, Nonsyndromic Intellectual Disability CIC Gene NGS Panel, CIC Gene Mutation Analysis

CIC Gene Intellectual disability nonsyndromic, CIC 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 Reports are delivered within 3 to 4 weeks from sample receipt. If additional confirmatory testing is required, the timeline may be extended.. Free home collection in 300+ cities across India.

NGS Genetic TestAll 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 identify pathogenic or likely pathogenic variants in the CIC gene that are associated with nonsyndromic intellectual disability. The test is indicated for individuals presenting with intellectual disability or global developmental delay of unexplained cause, particularly when other syndromic features are absent. Test results can confirm the clinical diagnosis, guide management and surveillance, and provide accurate recurrence risk information for family planning.

Test Code
4149
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are delivered within 3 to 4 weeks from sample receipt. If additional confirmatory testing is required, the timeline may be extended.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. The patient should carry any prior medical records, and it is recommended to attend a genetic counselling session before the test where a pedigree chart will be drawn.

Method: Venipuncture or FTA card blood spot

Step 2

Laboratory Analysis

Blood sample is collected by a trained phlebotomist under sterile conditions. For FTA card, a simple finger-prick or heel-prick blood spot is taken. No anaesthesia or special precautions are needed.

Step 3

Report Delivery

There are no post-collection restrictions. The patient can resume normal activities immediately. The sample will be sent to the laboratory for processing.

Timeline: Reports are delivered within 3 to 4 weeks from sample receipt. If additional confirmatory testing is required, the timeline may be extended.

Patient Instructions

1
Before the Test:The patient or family will be counselled about the purpose, limitations, and potential outcomes of the CIC gene NGS test. Written informed consent is required before sample collection.
2
During the Test:The NGS procedure involves DNA extraction, library preparation, amplification, sequencing on a high-throughput platform, and bioinformatics analysis. No patient participation is needed beyond sample provision.
3
After the Test:The results are reviewed by clinical geneticists and reported in a comprehensive format. Genetic counselling for the patient and family is highly recommended to interpret the result and discuss management.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify pathogenic or likely pathogenic variants in the CIC gene that are associated with nonsyndromic intellectual disability. The test is indicated for individuals presenting with intellectual disability or global developmental delay of unexplained cause, particularly when other syndromic features are absent. Test results can confirm the clinical diagnosis, guide management and surveillance, and provide accurate recurrence risk information for family planning.

How to Prepare

  • Use an EDTA vacutainer for blood collection; do not use heparin or fluoride tubes.
  • For FTA card collection, apply exactly 2-3 drops of blood to the designated circles and air dry for at least 30 minutes.
  • If providing extracted DNA, ensure it is 2-5 μg at a concentration of at least 30 ng/μL.
  • Label the sample tube/card with patient name, date of birth, and collection date.
  • All samples should be transported to the laboratory at ambient temperature if processed within 24 hours; otherwise refrigerate (blood) or store FTA card in a dry box.

Doctor's Notes

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

"Timely genetic testing for unexplained intellectual disability is essential to guide family planning and clinical management. This NGS-based CIC gene test provides a definitive molecular diagnosis for affected individuals."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml blood (EDTA) or 1-2 spots on FTA card or 2-5 μg extracted DNA
ContainerEDTA vacutainer / FTA card / DNA vial
Collection MethodVenipuncture or FTA card blood spot

Sample Stability

Whole blood (EDTA): 72 hours at 2-8°C
FTA card: Stable for 6 months at room temperature (15-30°C)
Extracted DNA: Stable for 6 months at -20°C
Do not freeze whole blood
Sample Rejection Criteria:
  • Clotted blood sample
  • Hemolyzed or lipemic sample
  • Insufficient quantity (less than 1 ml blood or less than 0.5 μg DNA)
  • Incorrect anticoagulant used (e.g., heparin)
  • FTA card with insufficient blood spots or contamination
  • Unlabeled or improperly labeled specimen

Understanding Your Results

Interpretation of the CIC gene NGS test results should always be performed by a qualified clinical geneticist or genetic counsellor. Variants are classified according to standard guidelines (e.g., ACMG/AMP criteria). The report will indicate whether a pathogenic, likely pathogenic, benign, likely benign, or variant of uncertain significance (VUS) was identified.
Pathogenic or likely pathogenic variant: Confirms the molecular diagnosis of CIC-related nonsyndromic intellectual disability. Genetic counselling and family studies are recommended.
Variant of uncertain significance (VUS): Additional segregation analysis or functional studies may be needed. Clinical suspicion remains based on symptoms.
No pathogenic variant detected: Does not rule out a genetic cause; other genetic testing may be considered based on clinical scenario.
⚠️ When to Consult a Doctor:

Consult a clinical geneticist or neurologist if the patient presents with unexplained intellectual disability, global developmental delay, or a family history of the condition. Genetic counselling is recommended before and after testing to understand the implications of results.

Limitations

  • ⚠NGS may not detect large deletions, duplications, or structural rearrangements in the CIC gene
  • ⚠This test does not analyse deep intronic variants, regulatory regions, or mitochondrial genome variations
  • ⚠Repeat expansions and triplet repeat disorders are not detected by this assay
  • ⚠Variants of uncertain significance (VUS) may be reported and require further segregation analysis
  • ⚠Genetic heterogeneity means a negative CIC gene test does not exclude other genetic causes of intellectual disability

Risks & Considerations

  • ●Physical risks of blood draw: minor pain, bruising, or bleeding at the puncture site, rarely infection.
  • ●Psychological risk of receiving a genetic diagnosis or uncertain result.
  • ●Risk of incidental findings unrelated to the primary indication.

Interfering Factors

  • ●Insufficient DNA quantity or quality from the sample
  • ●Hemolysis or clotting of blood sample
  • ●Contamination with exogenous DNA during collection or handling
  • ●Presence of PCR inhibitors in the sample
  • ●Extensive homologous sequences might affect interpretation
  • ●Recent blood transfusion can cause mixed DNA results (rare)

Compare With Similar Tests

TestCIC Gene Intellectual disability nonsyndromic, CIC related NGS Genetic TestChromosomal Microarray Analysis (CMA)Whole Exome Sequencing (WES)Fragile X Syndrome Testing
ComparisonCIC Gene Intellectual disability nonsyndromic, CIC related NGS Genetic Test

Frequently Asked Questions

What is the CIC gene and what does it do?
The CIC gene on chromosome 19 encodes capicua, a transcriptional repressor involved in normal brain development. Mutations can lead to nonsyndromic intellectual disability.
What is nonsyndromic intellectual disability?
It is intellectual disability that occurs without other physical or dysmorphic features. In CIC-related nonsyndromic ID, the primary findings are cognitive and behavioural.
Who should get this CIC gene NGS genetic test?
Individuals with unexplained intellectual disability, global developmental delay, or a family history of CIC-related ID, especially when other syndromic causes are ruled out.
What sample is required for this test?
Blood in EDTA tube, or one drop of blood on an FTA card, or extracted DNA. A home sample collection is available free of charge for online bookings.
Do I need to fast before the test?
No, fasting is not required for this genetic test. You can eat and drink normally.
What is the turnaround time for reports?
Reports are generally available in 3 to 4 weeks after the sample is received by the lab.
What is the cost of the CIC gene NGS test at DNA Labs India?
The test cost is INR 20,000. This includes free home sample collection and a genetic counselling session.
How accurate is NGS for detecting CIC gene mutations?
NGS sequencing of the CIC coding regions and splice sites is highly accurate for detecting point mutations and small insertions/deletions, with high depth sequencing. However, large structural rearrangements are not detected.
What does a positive result mean?
A positive result identifies a pathogenic or likely pathogenic variant in the CIC gene, confirming a molecular diagnosis of CIC-related intellectual disability. Genetic counselling is recommended.
What if the result is negative?
A negative result means no pathogenic variant was found in the CIC gene by this test. It does not exclude a genetic cause; your doctor may recommend further testing.
Are there any risks associated with the test?
The only risks are related to the blood draw, such as bruising or light-headedness. There is no significant physical risk from the genetic test itself.
Can this test be used for prenatal diagnosis?
Yes, if a pathogenic variant is already identified in the family, this NGS test can be offered for prenatal diagnosis. Please discuss with a clinical genetics specialist.
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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