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TUBA8 Gene Polymicrogyria with optic nerve hypoplasia NGS Genetic Test

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TUBA8 Gene Polymicrogyria with optic nerve hypoplasia NGS Genetic Test

Short Name: TUBA8 NGS Test

Also known as: TUBA8 Gene Sequencing, Polymicrogyria Genetic Test, Optic Nerve Hypoplasia NGS Panel

TUBA8 Gene Polymicrogyria with optic nerve hypoplasia 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 after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The primary purpose of this test is to confirm a clinical diagnosis of TUBA8 gene polymicrogyria with optic nerve hypoplasia by identifying pathogenic mutations in the TUBA8 gene. It also helps in carrier detection, prenatal diagnosis in at-risk pregnancies, and providing prognostic information. Additionally, genetic testing can aid in differentiating this condition from other similar disorders, thereby guiding appropriate therapeutic interventions and support services.

Test Code
5910
CPT Code
81407
ICD Code
Q04.8
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 reaches the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. However, a clinical history and genetic counseling session are recommended before the test.

Method: Venipuncture or Fingerstick

Step 2

Laboratory Analysis

Blood sample is collected by a trained phlebotomist using sterile techniques. For FTA card, a few drops of blood are placed on the card and allowed to dry.

Step 3

Report Delivery

No specific aftercare is needed. The sample is transported to the laboratory at ambient temperature.

Timeline: Reports are delivered within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:Before the test, a genetic counseling session is recommended to discuss the purpose, risks, and benefits. The clinician will review the patient's medical and family history.
2
During the Test:The test involves a simple blood draw or FTA card sample collection. No anesthesia is required. The procedure is quick and minimally invasive.
3
After the Test:After sample collection, the patient can resume normal activities. Results are typically available in 3-4 weeks. The genetic counselor will discuss the results and implications.

About This Test

Who Should Get This Test

The primary purpose of this test is to confirm a clinical diagnosis of TUBA8 gene polymicrogyria with optic nerve hypoplasia by identifying pathogenic mutations in the TUBA8 gene. It also helps in carrier detection, prenatal diagnosis in at-risk pregnancies, and providing prognostic information. Additionally, genetic testing can aid in differentiating this condition from other similar disorders, thereby guiding appropriate therapeutic interventions and support services.

How to Prepare

  • Ensure the patient's identity is verified before sample collection.
  • Use EDTA tube for blood collection; mix gently to prevent clotting.
  • For FTA card, apply blood drops to the designated circles and air dry.
  • Label the sample with patient's name, date, and unique ID.
  • Transport the sample to the lab within 24-48 hours.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic testing for TUBA8 gene mutations is crucial for accurate diagnosis and management of polymicrogyria with optic nerve hypoplasia. Early detection can guide treatment 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 Volume2-3 ml blood or 1 drop on FTA card
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or Fingerstick

Sample Stability

Blood in EDTA tube48 hours
Extracted DNA6 months
FTA card1 year
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improper labeling
  • Sample received after prolonged delay without proper storage

Understanding Your Results

The results of the TUBA8 gene NGS test are interpreted by clinical geneticists and molecular pathologists. Variants are classified based on ACMG guidelines. A positive result confirms the diagnosis, while a negative result reduces the likelihood of TUBA8 involvement.
📊

Pathogenic variant detected

Confirms diagnosis of TUBA8-related polymicrogyria with optic nerve hypoplasia. Genetic counseling is recommended.

📊

Likely pathogenic variant detected

Highly suggestive of disease; further family studies may be needed.

📊

Variant of uncertain significance (VUS)

Cannot be definitively classified; additional testing or family segregation analysis may be required.

📊

No pathogenic variant detected

No mutation found in TUBA8 gene; other genetic causes should be considered.

⚠️ When to Consult a Doctor:

If you or your child experience symptoms such as developmental delay, seizures, vision problems, or abnormal brain imaging, consult a neurologist or geneticist. Genetic testing can provide a definitive diagnosis and guide management.

Limitations

  • ⚠This test does not detect all possible mutations in the TUBA8 gene, such as large deletions/duplications or deep intronic variants.
  • ⚠Results should be interpreted in the context of clinical findings and family history.
  • ⚠A negative result does not exclude the possibility of polymicrogyria due to other genes.
  • ⚠Variant of uncertain significance (VUS) may be reported; further testing may be required.

Risks & Considerations

  • ●Minimal risk of bruising or infection at the blood draw site
  • ●Psychological impact of genetic results
  • ●Potential for incidental findings (unrelated to the test)

Interfering Factors

  • ●Contamination of sample during collection
  • ●Insufficient DNA quantity or quality
  • ●Presence of maternal cell contamination in prenatal samples
  • ●Genetic variants in non-coding regions not covered by NGS

Compare With Similar Tests

TestTUBA8 Gene Polymicrogyria with optic nerve hypoplasia NGS Genetic TestWhole Exome Sequencing (WES)Chromosomal Microarray (CMA)Targeted Polymicrogyria Panel
ComparisonTUBA8 Gene Polymicrogyria with optic nerve hypoplasia NGS Genetic Test

Frequently Asked Questions

What is the cost of the TUBA8 gene NGS genetic test?
The test costs INR 20,000 at DNA Labs India, which includes home sample collection and genetic counseling.
What sample is required for this test?
Blood (2-3 ml in EDTA tube) or extracted DNA or one drop of blood on FTA card.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample submission.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Can this test be done on children?
Yes, the test is suitable for all age groups, including children, with appropriate consent.
What does a positive result mean?
A positive result indicates the presence of a pathogenic mutation in the TUBA8 gene, confirming the diagnosis.
What if the result is negative?
A negative result means no mutation was found in the TUBA8 gene; other genetic causes may be considered.
Is genetic counseling included?
Yes, a genetic counseling session is included before and after the test to help interpret results.
Can this test detect carriers?
Yes, the test can identify carriers of TUBA8 mutations, which is useful for family planning.
Is home sample collection available?
Yes, we offer free home sample collection across major cities in India for online bookings.
What is the accuracy of this NGS test?
NGS has high sensitivity and specificity for detecting mutations in the TUBA8 gene, with >99% accuracy for covered regions.
Are there any risks associated with the test?
The test is safe; the only risk is minor discomfort or bruising at the blood draw site.
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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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.

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