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CC2D1A Gene Mental retardation, autosomal recessive type 3 NGS Genetic Test

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CC2D1A Gene Mental retardation, autosomal recessive type 3 NGS Genetic Test

Short Name: CC2D1A Gene AR Type 3 NGS

Also known as: CC2D1A Gene Mutation Test, Mental Retardation, Autosomal Recessive Type 3 Genetic Test, Intellectual Disability NGS Panel (CC2D1A specific)

CC2D1A Gene Mental retardation, autosomal recessive type 3 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Variant analysis and interpretation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are delivered within 3 to 4 weeks after the sample and all relevant documents are received.. 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

To detect pathogenic or likely pathogenic variants in the CC2D1A gene in individuals with intellectual disability, developmental delay, seizures, or behavioural abnormalities suggestive of autosomal recessive type 3 mental retardation.

Test Code
4258
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 after the sample and all relevant documents are received.
Fasting Required
No
Method
Next Generation Sequencing (NGS), Variant analysis and interpretation
Step 1

Sample Collection

No prior preparation is required. A genetic counselling session is recommended to discuss clinical history and draw a pedigree chart of family members affected with the condition.

Method: Peripheral blood collection or FTA card blood spot

Step 2

Laboratory Analysis

A small volume of blood will be drawn from a vein in your arm. Alternatively, a few drops of blood may be collected on an FTA card.

Step 3

Report Delivery

You can resume your daily activities immediately. Minor bruising at the puncture site may occur but resolves quickly.

Timeline: Reports are delivered within 3 to 4 weeks after the sample and all relevant documents are received.

Patient Instructions

1
Before the Test:No special preparation is required. A genetic counselling session is recommended before testing to understand the clinical implications.
2
During the Test:A standard blood sample collection procedure is followed. The collected sample is securely sent to the laboratory for analysis.
3
After the Test:There is no special care required after the test. You will be informed when the report is ready.

About This Test

Who Should Get This Test

To detect pathogenic or likely pathogenic variants in the CC2D1A gene in individuals with intellectual disability, developmental delay, seizures, or behavioural abnormalities suggestive of autosomal recessive type 3 mental retardation.

How to Prepare

  • Please provide a valid doctor's prescription or referral, if available
  • Consent form must be signed before sample collection
  • Ensure the patient's clinical history is provided

Doctor's Notes

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

"Genetic testing provides a precise molecular diagnosis, which is essential for accurate genetic counselling, recurrence risk assessment and family 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 standard protocol
ContainerEDTA vacutainer or FTA card
Collection MethodPeripheral blood collection or FTA card blood spot

Sample Stability

72 hours
1 year
1 year
Sample Rejection Criteria:
  • Hemolysed blood sample
  • Sample in improper container
  • Inadequate volume
  • Mislabeled sample

Understanding Your Results

The final report includes a clear classification of any identified genetic variant according to ACMG guidelines. Positive results confirm the diagnosis of CC2D1A-related mental retardation and enable accurate genetic counselling and family planning.
📊

Pathogenic/Likely pathogenic variant detected

Confirms the clinical diagnosis in affected individuals; indicates autosomal recessive inheritance, autosomal recessive type 3 mental retardation.

📊

No pathogenic variant detected

No disease-causing variants were found in the CC2D1A gene. This does not exclude other genetic or non-genetic causes of intellectual disability.

📊

Variant of uncertain significance (VUS)

A genetic variant was found but its clinical significance is not yet established. Additional familial segregation testing may be required.

⚠️ When to Consult a Doctor:

Consult a neurologist, paediatrician or medical geneticist if you observe any signs of intellectual disability, developmental delay, seizures or behavioural problems in yourself or a family member. Genetic counselling is recommended before and after testing.

Limitations

  • ⚠NGS does not detect all types of mutations, such as large structural variants, deep intronic or regulatory region mutations
  • ⚠Sanger sequencing is used to confirm clinically significant variants
  • ⚠A negative result does not exclude a genetic cause; other genes may be involved

Risks & Considerations

  • ●Mild pain, redness or bruising at the blood sample collection site
  • ●Dizziness or fainting during blood collection
  • ●Very unlikely risk of infection

Interfering Factors

  • ●Insufficient or degraded DNA
  • ●Maternal cell contamination in sample
  • ●Technical artefacts in NGS sequencing
  • ●Variant of uncertain significance may require further testing

Compare With Similar Tests

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Frequently Asked Questions

What is the CC2D1A gene mental retardation NGS genetic test?
This is a next-generation sequencing test that analyses the CC2D1A gene to detect mutations associated with autosomal recessive type 3 mental retardation/intellectual disability. It helps confirm a clinical diagnosis and guides genetic counselling.
What is the cost of the CC2D1A gene NGS test at DNA Labs India?
The test costs INR 20,000, which includes genetic testing, analysis and interpretation of results. Free home sample collection is also available for online bookings.
What is CC2D1A gene mutation?
The CC2D1A gene provides instructions for making a protein called Coiled-Coil and C2 Domain Containing 1A, which is important for nerve cell development and maintenance. Mutations in this gene disrupt normal brain development and can cause intellectual disability.
What are the symptoms of CC2D1A gene mutation?
Symptoms can include mild to severe intellectual disability, delayed speech and language development, delayed motor development, behavioural problems like hyperactivity or aggression, seizures, and structural brain abnormalities.
How is the sample collected for this genetic test?
The sample can be provided as whole blood (collected by venipuncture), extracted DNA, or a few drops of blood applied to an FTA card. All are accepted for the test.
Is fasting required before the test?
No, fasting is not required for this NGS genetic test. You can eat and drink normally before sample collection.
How long does it take to get the test report?
Reports are usually available within 3 to 4 weeks from the time the sample and all relevant documents are received by the laboratory.
Who should undergo this genetic test?
Individuals with unexplained intellectual disability, developmental delay, speech or motor delay, seizures, behavioural issues, or those with a family history of autosomal recessive mental retardation may benefit from this test. A specialist may recommend it after clinical evaluation.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across more than 300 cities in India, including major metros and urban centres.
How accurate is NGS genetic testing?
NGS is a highly accurate and sensitive method for detecting single nucleotide variants, small insertions/deletions and copy number changes. Clinically significant variants are confirmed using Sanger sequencing for maximum reliability.
Can this test be performed on a child?
Yes, this test can be performed on individuals of any age, including children. A small blood sample is sufficient, and consent from a parent or legal guardian is required.
What is the significance of early diagnosis?
Early diagnosis allows for timely medical management, appropriate therapies, educational support, and genetic counselling for the family. It also helps assess recurrence risk in future pregnancies.
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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