APC2 Gene Neurodevelopmental disorder, APC2-related NGS Genetic Test
Short Name: APC2 Gene NGS Test
Also known as: APC2 Gene Test, APC2-Related Neurodevelopmental Disorder Test, Adenomatous Polyposis Coli 2 Gene Test, APC2 Mutation Analysis, APC2 NGS Sequencing Test
APC2 Gene Neurodevelopmental disorder, APC2-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 Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered via the online portal, email, or WhatsApp.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the APC2 Gene Neurodevelopmental Disorder NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the APC2 gene that are responsible for neurodevelopmental abnormalities. This test aids in confirming a clinical diagnosis, differentiating APC2-related disorder from other neurodevelopmental conditions with overlapping features, facilitating genetic counselling for affected families, enabling carrier testing for at-risk family members, and guiding clinical management and intervention planning for the affected individual.
- Test Code
- 1773
- ICD Code
- F89, Q87.89
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered via the online portal, email, or WhatsApp.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Genetic counselling session is recommended prior to sample collection. A detailed clinical history and family pedigree chart of the patient should be prepared. No fasting is required. Ensure the patient is not acutely ill or has not received a recent blood transfusion within 4 weeks.
Method: Venipuncture
Laboratory Analysis
A trained phlebotomist will collect 3-5 mL of venous blood in an EDTA (lavender top) tube. Alternatively, a single drop of blood on an FTA card or pre-extracted DNA may be submitted. The sample is labelled with patient details and transported under appropriate conditions.
Report Delivery
The blood sample is processed and DNA is extracted in the laboratory. NGS sequencing is performed on the APC2 gene. Results are reviewed by a qualified geneticist and a detailed report is generated. Reports are typically available within 3 to 4 weeks and are delivered via the online portal, email, or WhatsApp.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered via the online portal, email, or WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the APC2 Gene Neurodevelopmental Disorder NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the APC2 gene that are responsible for neurodevelopmental abnormalities. This test aids in confirming a clinical diagnosis, differentiating APC2-related disorder from other neurodevelopmental conditions with overlapping features, facilitating genetic counselling for affected families, enabling carrier testing for at-risk family members, and guiding clinical management and intervention planning for the affected individual.
How to Prepare
- Collect 3-5 mL of venous blood in an EDTA (lavender top) tube
- Alternatively, provide one drop of blood on an FTA card or pre-extracted DNA
- Label the sample accurately with patient name, date of birth, and sample ID
- Transport the sample at ambient room temperature
- Ensure the sample reaches the laboratory within 48-72 hours of collection
- Avoid hemolyzed or clotted samples
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"APC2 gene mutations can present with a wide spectrum of neurodevelopmental features. Early genetic diagnosis through NGS technology allows families to understand the underlying cause of their child's condition, plan appropriate interventions, and assess recurrence risk for future pregnancies. I recommend this test for any child presenting with unexplained developmental delay, intellectual disability, or autism-like features when initial workup has been inconclusive. Genetic counselling before and after the test is essential to help families interpret the results and make informed decisions about ongoing care and family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Samples with insufficient volume (less than 2 mL whole blood)
- Improperly labelled or unlabelled samples
- Samples received beyond the acceptable stability window
- Contaminated samples or samples collected in incorrect tubes
- Samples from patients who have received blood transfusions within the past 4 weeks without prior disclosure
Understanding Your Results
Pathogenic variant detected
A mutation in the APC2 gene known to cause neurodevelopmental disorder was identified. This confirms the genetic diagnosis. Genetic counselling and clinical management planning are recommended.
Likely pathogenic variant detected
A variant in the APC2 gene that is very likely disease-causing was identified. Further clinical correlation and family studies may be recommended. Genetic counselling is advised.
Variant of Uncertain Significance (VUS)
A genetic change in the APC2 gene was identified, but there is insufficient evidence to determine whether it is disease-causing or benign. Further family studies and clinical follow-up may help clarify significance.
Likely benign variant detected
A variant was identified in the APC2 gene that is unlikely to be related to the patient's neurodevelopmental phenotype. No action is typically required for this finding.
No pathogenic variant detected
No disease-causing mutations were identified in the APC2 gene. This result does not completely exclude a genetic basis for the patient's condition, as mutations in other genes may be responsible.
Consult your neurologist, clinical geneticist, or paediatrician if you or your child experiences delayed speech and language development, intellectual disability, features of autism spectrum disorder, poor motor coordination, seizures, or if there is a family history of neurodevelopmental disorders. A medical professional can evaluate the clinical signs and recommend appropriate genetic testing, including the APC2 Gene NGS Genetic Test.
Limitations
- ⚠This test specifically targets the APC2 gene and does not detect mutations in other neurodevelopmental disorder-associated genes
- ⚠Deep intronic mutations and large structural rearrangements may not be fully detected by standard NGS
- ⚠Variants of Uncertain Significance (VUS) may be identified and cannot be definitively classified as pathogenic or benign at the time of reporting
- ⚠A negative result does not completely exclude a genetic basis for the neurodevelopmental phenotype
- ⚠Results should be interpreted in the context of clinical findings and family history by a qualified geneticist or neurologist
Risks & Considerations
- ●Minimal physical risk associated with blood draw, including minor bruising, soreness, or infection at the puncture site
- ●Potential psychological impact of receiving genetic test results, including anxiety or emotional distress
- ●Risk of identifying Variants of Uncertain Significance (VUS) that may cause uncertainty
- ●Potential implications for family members who may carry the same genetic variant
- ●Possible insurance or privacy concerns related to genetic information disclosure
Interfering Factors
- ●Hemolyzed blood samples may affect DNA extraction quality
- ●Recent blood transfusion within the past 4 weeks may interfere with results
- ●Insufficient sample volume may reduce sequencing coverage
- ●Contaminated samples may produce inaccurate results
Compare With Similar Tests
| Test | APC2 Gene Neurodevelopmental disorder, APC2-related NGS Genetic Test | Sanger Sequencing | Chromosomal Microarray (CMA) | Whole Exome Sequencing (WES) | Neurodevelopmental Gene Panel |
|---|---|---|---|---|---|
| Comparison | APC2 Gene Neurodevelopmental disorder, APC2-related NGS Genetic Test |
Frequently Asked Questions
What is APC2 Gene Neurodevelopmental Disorder?
What are the common symptoms of APC2 Gene Neurodevelopmental Disorder?
How is APC2 Gene Neurodevelopmental Disorder diagnosed?
What is Next-Generation Sequencing (NGS) technology?
What sample is required for the APC2 Gene NGS Genetic Test?
How much does the APC2 Gene NGS Genetic Test cost in India?
How long does it take to get the results of the APC2 Gene test?
Is genetic counselling required before taking the APC2 Gene test?
Can the APC2 Gene NGS test be used for screening other family members?
Is the APC2 Gene NGS Genetic Test available across India?
What happens if the test result is positive for an APC2 gene mutation?
Is the APC2 Gene NGS Genetic Test covered by health insurance in India?
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