Skip to main content
DNA Labs India

TUBB2A Gene Cortical dysplasia, complex, with other brain malformations, type 5 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

TUBB2A Gene Cortical dysplasia, complex, with other brain malformations, type 5 NGS Genetic Test

Short Name: TUBB2A NGS Test

Also known as: CDCBM5, TUBB2A-related cortical dysplasia, Cortical Dysplasia Type 5 Genetic Test, TUBB2A gene sequencing

TUBB2A Gene Cortical dysplasia, complex, with other brain malformations, type 5 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood / Extracted DNA / FTA Card Blood Spot samples. Results in Results are generally available within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAll age groups, commonly pediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

To detect pathogenic or likely pathogenic variants in the TUBB2A gene to confirm a diagnosis of cortical dysplasia, complex, with other brain malformations, type 5 (CDCBM5), and to guide clinical management, prognosis, and recurrence-risk counseling.

Test Code
3982
Price
₹20,000
Sample Type
Blood / Extracted DNA / FTA Card Blood Spot
Result Time
Results are generally available within 3 to 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 pre-test genetic counseling session is recommended to draw a pedigree chart and understand the affected family members. Please carry any previous imaging or clinical reports if available.

Method: Venipuncture / FTA card spot / DNA sample submission

Step 2

Laboratory Analysis

Blood is usually collected from a vein. For FTA cards, a small drop of blood is placed on the card. The procedure is quick and minimally invasive.

Step 3

Report Delivery

There are no activity restrictions after sample collection. The sample is transported to the laboratory for DNA extraction and NGS analysis. Results are issued within 3 to 4 weeks.

Timeline: Results are generally available within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:A genetic counseling session is advised before this test to review family history, explain the purpose, and document affected relatives in a pedigree chart. The referring doctor will correlate clinical and radiological findings with the genetic result.
2
During the Test:A small blood sample is collected by venipuncture, or an FTA card blood spot is prepared. DNA is extracted from the sample, and targeted sequencing of the TUBB2A gene is performed.
3
After the Test:After testing, the clinical geneticist interprets the variants and prepares a report. The referring physician will discuss the result with the patient and family and plan further management or counseling.

About This Test

Who Should Get This Test

To detect pathogenic or likely pathogenic variants in the TUBB2A gene to confirm a diagnosis of cortical dysplasia, complex, with other brain malformations, type 5 (CDCBM5), and to guide clinical management, prognosis, and recurrence-risk counseling.

How to Prepare

  • No special dietary preparation is required
  • Full clinical history and MRI brain reports, if available, should accompany the sample
  • Consent and requisition form must be completed
  • Home sample collection is available upon booking
  • For infants, FTA card blood spot is convenient

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"A molecular diagnosis in TUBB2A-related cortical dysplasia helps guide early intervention, seizure management, and informed family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood / Extracted DNA / FTA Card Blood Spot
Sample VolumeAs required for NGS: EDTA blood or 1 FTA spot or DNA sample
ContainerEDTA vacutainer / sterile DNA vial / FTA card
Collection MethodVenipuncture / FTA card spot / DNA sample submission

Sample Stability

Whole blood in EDTA: stable at 2-8°C for up to 72 hours
Extracted DNA: stable at -20°C for long-term storage
FTA card: stable at room temperature for transport
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Sample without proper label or consent
  • Broken or leaking container
  • Highly degraded DNA

Understanding Your Results

Interpretation of this genetic test is performed by clinical geneticists and is based on both NGS sequencing data and the patient's clinical features. Variants are classified according to ACMG/AMP guidelines.
Positive: A pathogenic or likely pathogenic variant in TUBB2A is identified and supports a diagnosis of CDCBM5.
Negative: No pathogenic/likely pathogenic variant was detected. A clinical diagnosis may still be retained if clinical and imaging findings are highly suggestive.
VUS: A variant of uncertain significance was found. This does not provide a definitive diagnosis and may require further testing or family studies.
Inconclusive: Technical issues may have prevented complete sequencing of the gene; repeat testing or alternative methods may be recommended.
⚠️ When to Consult a Doctor:

If the result is positive, consult a neurologist or clinical geneticist for management and family counseling. If the result is negative or VUS, discuss the benefit of broader genetic testing such as a cortical malformation gene panel or whole exome sequencing.

Limitations

  • ⚠This test detects single-nucleotide variants and small insertions/deletions in TUBB2A
  • ⚠Large gene deletions/duplications, complex rearrangements, or deep intronic variants may not be identified
  • ⚠A negative result does not fully exclude TUBB2A-related disorder
  • ⚠Variants of uncertain significance may be reported and may require additional family testing

Risks & Considerations

  • ●Minimal pain or bruising at the venipuncture site
  • ●Mild bleeding at the collection site
  • ●Emotional or psychological impact from genetic findings

Interfering Factors

  • ●Poor DNA quality or quantity
  • ●Sample contamination
  • ●Incorrect sample labeling
  • ●Blood transfusion within a short period before collection (may cause mixed DNA)
  • ●Low-level mosaicism

Frequently Asked Questions

What is TUBB2A gene cortical dysplasia, complex, with other brain malformations, type 5?
It is a rare genetic neurological disorder caused by variants in the TUBB2A gene that affect brain cortex development. It is also called CDCBM5 and may present with seizures, intellectual disability, and neurodevelopmental delays.
What does the TUBB2A NGS genetic test detect?
The test detects mutations in the TUBB2A gene using next-generation sequencing to identify pathogenic or likely pathogenic variants that may explain a person's cortical dysplasia and related brain malformations.
How much does the TUBB2A gene NGS genetic test cost?
At DNA Labs India, the test costs INR 20,000 (Rs 20000). Home sample collection is available at no extra charge in many locations.
Which sample types are accepted for this test?
Whole blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card is accepted.
Is fasting required before the test?
No, this genetic test does not require fasting. You can eat and drink normally before sample collection.
How long will reports take?
Reports are available within 3 to 4 weeks after the sample is received by the laboratory.
Will I get the raw sequencing data?
Yes, DNA Labs India provides FASTQ and VCF files along with the conclusive clinical report for transparency.
Can this test be performed on children?
Yes, the test is suitable for all age groups including children. For infants, an FTA card blood spot can be convenient.
Which doctor should I consult before or after the test?
You should consult a neurologist, pediatric neurologist, or clinical geneticist for pre-test counseling and proper interpretation of results.
Is the TUBB2A NGS test covered by insurance?
Coverage depends on your insurance scheme. DNA Labs India may accept corporate or private reimbursement, but you should confirm with your insurance provider.
What is the advantage of NGS over targeted Sanger sequencing for TUBB2A?
NGS offers high-throughput and simultaneous analysis of the TUBB2A gene and is efficient for detecting point mutations and small indels in a clinical setting. It is also suitable for future panel-based expansion.
What does a variant of uncertain significance (VUS) mean?
A VUS is a genetic change whose clinical impact is not yet established. It does not confirm or exclude CDCBM5, and additional family testing or functional studies may be needed.
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.

Related Tests

Angelman Syndrome Test

₹10,000

Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

₹14,000

Episodic Ataxia Type 1 Hotspot Test

₹11,500

Episodic Ataxia Comprehensive Profile Hotspot Test

₹16,000

Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test

₹7,500

Analyzer 18 SMA 18 Test Panel

₹1,755
For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

Your Data Privacy

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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.