AKT3 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2 NGS Genetic Test
Short Name: AKT3 MPPH2 NGS Test
Also known as: AKT3 Gene Mutation Test, MPPH2 Genetic Test, AKT3 NGS Sequencing
AKT3 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in Results are usually delivered within 3-4 weeks from the date of sample receipt. The exact time may vary depending on the complexity of the analysis.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The primary purpose of the AKT3 NGS Genetic Test is to confirm a clinical diagnosis of Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2 by identifying pathogenic mutations in the AKT3 gene. This test is also used for carrier testing in family members, prenatal diagnosis in at-risk pregnancies, and to provide prognostic information for affected individuals. Genetic confirmation enables tailored medical management, including early intervention for developmental delays, monitoring for hydrocephalus, and surgical correction of polydactyly. Additionally, it allows for accurate genetic counseling regarding recurrence risks for the family.
- Test Code
- 5836
- CPT Code
- 81407
- ICD Code
- Q04.8
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- Results are usually delivered within 3-4 weeks from the date of sample receipt. The exact time may vary depending on the complexity of the analysis.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended before the test to discuss the implications and obtain informed consent.
Method: Venipuncture
Laboratory Analysis
A blood sample will be collected by a trained phlebotomist using standard venipuncture technique. The procedure is quick and minimally invasive.
Report Delivery
No specific precautions are needed after blood collection. Patients can resume normal activities immediately.
Timeline: Results are usually delivered within 3-4 weeks from the date of sample receipt. The exact time may vary depending on the complexity of the analysis.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the AKT3 NGS Genetic Test is to confirm a clinical diagnosis of Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2 by identifying pathogenic mutations in the AKT3 gene. This test is also used for carrier testing in family members, prenatal diagnosis in at-risk pregnancies, and to provide prognostic information for affected individuals. Genetic confirmation enables tailored medical management, including early intervention for developmental delays, monitoring for hydrocephalus, and surgical correction of polydactyly. Additionally, it allows for accurate genetic counseling regarding recurrence risks for the family.
How to Prepare
- Ensure the patient is properly identified.
- Use EDTA vacutainer for blood collection.
- Label the tube with patient name, date, and unique ID.
- Transport the sample to the laboratory at ambient temperature within 24 hours.
- Avoid hemolysis or clotting of the sample.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic confirmation of MPPH2 is crucial for management and family counseling. This NGS test provides precise detection of AKT3 mutations."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Incorrect labeling
- Sample received after prolonged transit time
- Insufficient sample volume
Understanding Your Results
Positive (Pathogenic variant)
Confirms diagnosis of MPPH2. Genetic counseling and family testing recommended.
Positive (Likely pathogenic variant)
High likelihood of MPPH2. Further clinical correlation and family studies advised.
Negative
No pathogenic variants detected in AKT3. Consider testing other genes associated with megalencephaly syndromes.
Variant of Uncertain Significance (VUS)
Variant identified but clinical significance unknown. Additional testing of family members may help classify.
Consult a clinical geneticist or pediatric neurologist if the test result is positive or if you have concerns about MPPH2 symptoms. Genetic counseling is recommended for all patients undergoing this test.
Limitations
- ⚠This test detects mutations in the AKT3 gene only; other genes may cause similar phenotypes.
- ⚠Regulatory region mutations, deep intronic variants, and large structural rearrangements may not be detected by standard NGS.
- ⚠Variant of uncertain significance (VUS) may require further family studies.
- ⚠Test does not assess the functional impact of variants.
Risks & Considerations
- ●No significant physical risks associated with blood draw
- ●Psychological impact of genetic results
- ●Potential for incidental findings
- ●Risk of variant of uncertain significance causing anxiety
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Recent blood transfusion (within 2 weeks)
- ●Bone marrow transplantation
- ●Maternal cell contamination in prenatal samples
Compare With Similar Tests
| Test | AKT3 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2 NGS Genetic Test | AKT3 Gene Sequencing (Sanger) | Chromosomal Microarray (CMA) | Whole Exome Sequencing (WES) |
|---|---|---|---|---|
| Comparison | AKT3 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2 NGS Genetic Test | Sanger sequencing is less comprehensive and may miss large deletions/duplications. NGS offers higher throughput and detects a wider range of variants. | CMA detects copy number changes but does not identify single nucleotide variants. NGS is superior for point mutations. | WES covers all coding regions of the genome, but is more expensive and may identify incidental findings. Targeted AKT3 NGS is more focused and cost-effective. |
Frequently Asked Questions
What is the cost of the AKT3 MPPH2 NGS Genetic Test?
What sample is required for this test?
How long does it take to get the results?
Is fasting required before the test?
Can this test be done during pregnancy?
What does a positive result mean?
What if the result is negative?
Is genetic counseling included in the test price?
Can this test detect all types of AKT3 mutations?
Is home sample collection available?
Who should consider this test?
How accurate is this test?
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