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CTNNB1 Gene Mental retardation, autosomal dominant type 19 NGS Genetic Test

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CTNNB1 Gene Mental retardation, autosomal dominant type 19 NGS Genetic Test

Short Name: CTNNB1 NGS Genetic Test

Also known as: CTNNB1 Gene Mutation Analysis, Autosomal Dominant Type 19 Intellectual Disability Genetic Test, Beta-catenin Gene NGS Test

CTNNB1 Gene Mental retardation, autosomal dominant type 19 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 will be available within 3 to 4 weeks from the date of sample receipt.. 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 primary purpose of this NGS genetic test is to identify pathogenic mutations in the CTNNB1 gene that cause autosomal dominant type 19 mental retardation. This test is indicated when a patient presents with intellectual disability, speech delay, seizures, microcephaly or other features suggestive of a genetic neurodevelopmental disorder. The result helps confirm clinical diagnosis, determine the genetic basis, enable recurrence risk assessment, and facilitate tailored management. Genetic counselling before testing is essential to understand the implications of the test.

Test Code
4234
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports will be available within 3 to 4 weeks from the date of sample receipt.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation or fasting is required. Please carry a valid ID and any prior medical reports. If you are on any medications, inform the sample collector.

Method: Peripheral blood draw / FTA blood spot

Step 2

Laboratory Analysis

Blood sample will be collected under hygienic conditions by a trained phlebotomist. For FTA card, a single drop of blood from the finger or heel may be used.

Step 3

Report Delivery

There is no restriction on normal activities after sample collection. You can resume eating and drinking immediately.

Timeline: Reports will be available within 3 to 4 weeks from the date of sample receipt.

Patient Instructions

1
Before the Test:No specific preparation is needed. However, a pre-test genetic counselling session is recommended to understand the test purpose and outcomes. This is included as a part of the service.
2
During the Test:The sample is sent to the laboratory where NGS technology is used to sequence the CTNNB1 gene. This process takes approximately 3-4 weeks.
3
After the Test:Your sample will be analyzed and the report will be shared via email/portal. A post-test counselling session may be scheduled to explain the results and implications.

About This Test

Who Should Get This Test

The primary purpose of this NGS genetic test is to identify pathogenic mutations in the CTNNB1 gene that cause autosomal dominant type 19 mental retardation. This test is indicated when a patient presents with intellectual disability, speech delay, seizures, microcephaly or other features suggestive of a genetic neurodevelopmental disorder. The result helps confirm clinical diagnosis, determine the genetic basis, enable recurrence risk assessment, and facilitate tailored management. Genetic counselling before testing is essential to understand the implications of the test.

How to Prepare

  • No fasting required
  • EDTA anticoagulant tube should be used for blood collection
  • For FTA card, ensure the blood spot is completely air dried
  • Label the sample properly with patient name, ID and date
  • Transport the sample at ambient temperature or as advised

Doctor's Notes

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

"This genetic test is valuable for families with unexplained intellectual disability. A confirmed CTNNB1 mutation helps in counselling, family planning and multidisciplinary care."

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 1-2 μg DNA
ContainerEDTA vacutainer / FTA card / DNA in storage buffer
Collection MethodPeripheral blood draw / FTA blood spot

Sample Stability

EDTA blood: 24-48 hours at ambient temperature, 7 days at 2-8°C
Extracted DNA: 1 year at -20°C
FTA card blood spot: 6 months at ambient temperature
Sample Rejection Criteria:
  • Clotted or haemolysed blood sample
  • Sample without proper labeling
  • Leaked or broken tube
  • Insufficient amount of sample

Understanding Your Results

This genetic test provides a molecular diagnosis based on the detection of mutations in the CTNNB1 gene. The report should be reviewed by a qualified clinical geneticist to integrate genotype with clinical findings.
📊

Pathogenic or likely pathogenic variant detected

Confirms the clinical diagnosis of autosomal dominant type 19 mental retardation. Genetic counselling is recommended.

📊

Variant of unknown significance (VUS) detected

Further family studies or functional studies may be required to determine clinical significance.

📊

No pathogenic variant detected

Does not exclude a genetic cause; other genetic tests may be considered.

⚠️ When to Consult a Doctor:

If your child or a family member has unexplained developmental delay, intellectual disability, seizures, microcephaly or unusual behavioural issues, please consult a neurologist, paediatrician or geneticist for evaluation and possible genetic testing.

Limitations

  • ⚠NGS detects single nucleotide variants and small indels in coding regions and canonical splice sites. Large deletions/duplications may not be detected unless additional copy number analysis is performed.
  • ⚠The test may report variants of unknown significance (VUS) which require further investigation.
  • ⚠This test is not intended for prenatal diagnosis unless specifically validated.
  • ⚠Results should always be interpreted in the context of clinical presentation.

Risks & Considerations

  • ●Blood collection may cause minor pain or bruising at the puncture site
  • ●Very low risk of infection
  • ●Fainting in patients with needle phobia

Interfering Factors

  • ●Recent allogeneic bone marrow transplant
  • ●Blood transfusion within the past 2 weeks
  • ●Maternal cell contamination in neonatal blood samples
  • ●Poor DNA quality or quantity

Frequently Asked Questions

What is CTNNB1 gene mental retardation?
CTNNB1 gene mental retardation, also known as autosomal dominant type 19 mental retardation, is a genetic condition characterized by intellectual disability, speech delay, behavioral issues, seizures, microcephaly and abnormal muscle tone. It is caused by mutations in the CTNNB1 gene.
What is the role of the CTNNB1 gene?
The CTNNB1 gene provides instructions for making beta-catenin protein, which is involved in cell adhesion, signal transduction and gene expression. These functions are critical for normal brain development and function.
What does autosomal dominant type 19 mean?
Autosomal dominant means that a single copy of the mutated gene from either parent can cause the condition. Type 19 refers to the classification in the genetic nomenclature for mental retardation syndromes.
What are the symptoms of CTNNB1 gene mental retardation?
Common symptoms include intellectual disability, delayed speech and language, behavioural problems, seizures, microcephaly, and abnormal muscle tone. The severity varies from person to person.
How is this condition diagnosed?
Diagnosis is usually suspected based on clinical features, and confirmed by genetic testing that detects a mutation in the CTNNB1 gene. The NGS genetic test is a highly sensitive method for this purpose.
What is an NGS genetic test?
NGS stands for Next Generation Sequencing. It is a high-throughput technology capable of sequencing multiple genes simultaneously to detect mutations. This test specifically analyzes the CTNNB1 gene.
What is the cost of the CTNNB1 gene NGS test?
The cost of the CTNNB1 gene NGS genetic test is INR 20,000 (Rs 20,000) at DNA Labs India. This is a special discounted price including home sample collection.
What sample is required for this test?
The sample can be blood, extracted DNA, or one drop of blood on an FTA card. Blood is usually collected in an EDTA tube.
How long does it take to get the test results?
The turnaround time for the CTNNB1 gene NGS genetic test is 3 to 4 weeks from receipt of the sample.
Is fasting required for this test?
No, fasting is not required. Sample can be collected at any time of the day.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across major cities in India for this test.
How can I book this test?
You can book online through the DNA Labs India website, or contact the customer care number for assistance. Pre-test genetic counselling is recommended.
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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