AP4M1 Gene Microcephaly, AP4M1 related NGS Genetic Test
Short Name: AP4M1 NGS Test
Also known as: AP4M1 Gene Sequencing, AP4M1-Related Microcephaly Genetic Test
AP4M1 Gene Microcephaly, AP4M1 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 after the sample reaches the laboratory.. 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 this NGS genetic test is to identify pathogenic mutations in the AP4M1 gene that are associated with microcephaly and related neurological phenotypes. This test helps in confirming a clinical diagnosis, differentiating from other genetic causes of microcephaly, and providing essential information for genetic counseling, family planning, and management of the condition.
- Test Code
- 5853
- CPT Code
- 81407
- ICD Code
- Q02
- 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 after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting required. A genetic counseling session is recommended before the test to discuss the implications and obtain informed consent.
Method: Venipuncture or FTA card spot
Laboratory Analysis
Blood sample is collected by a trained phlebotomist using standard venipuncture technique. For FTA card, a drop of blood is placed on the card and allowed to dry.
Report Delivery
No special precautions. The sample is transported to the laboratory at ambient temperature.
Timeline: Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to identify pathogenic mutations in the AP4M1 gene that are associated with microcephaly and related neurological phenotypes. This test helps in confirming a clinical diagnosis, differentiating from other genetic causes of microcephaly, and providing essential information for genetic counseling, family planning, and management of the condition.
How to Prepare
- Ensure the patient's clinical history and pedigree chart are provided.
- Use EDTA vacutainer for blood collection.
- For FTA card, ensure the blood spot is completely dry before packaging.
- Label the sample with patient's name, date of birth, and collection date.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for AP4M1 is crucial for accurate diagnosis and family counseling in microcephaly cases."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged transit without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms the diagnosis of AP4M1-related microcephaly. Genetic counseling is recommended for the family.
Action: Discuss management options and reproductive planning.
Likely pathogenic variant detected
Highly suggestive of the condition; further evidence may be needed.
Action: Consider segregation analysis in family members.
Variant of uncertain significance (VUS)
The clinical significance is unknown; additional testing may be required.
Action: Follow-up with genetic counselor and consider functional studies.
No pathogenic variant detected
No mutation in AP4M1 gene; other causes of microcephaly should be considered.
Action: Further genetic testing or clinical evaluation may be needed.
If you or your child have symptoms of microcephaly, developmental delay, seizures, or a family history of the condition, consult a neurologist or geneticist for evaluation and testing.
Limitations
- ⚠This test only analyzes the AP4M1 gene; other genetic causes of microcephaly are not evaluated.
- ⚠Variant of uncertain significance (VUS) may require further family studies.
- ⚠Regulatory regions and deep intronic variants may not be fully covered.
- ⚠This test does not detect all types of mutations (e.g., large rearrangements).
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving genetic results
- ●Potential for uncertain results (VUS)
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Incomplete clinical information
- ●Presence of large deletions/duplications not detected by standard NGS
- ●Mosaic mutations may be missed
Compare With Similar Tests
| Test | AP4M1 Gene Microcephaly, AP4M1 related NGS Genetic Test | Chromosomal Microarray (CMA) | Whole Exome Sequencing (WES) |
|---|---|---|---|
| Comparison | AP4M1 Gene Microcephaly, AP4M1 related NGS Genetic Test | CMA detects copy number variations across the genome, while this NGS test focuses on single gene mutations in AP4M1. | WES analyzes all coding regions of genes, whereas this test is targeted to AP4M1 only. |
Frequently Asked Questions
What is the AP4M1 gene?
What is the cost of the AP4M1 gene test?
What sample is required for this test?
Do I need to fast before the test?
How long does it take to get the results?
Is home sample collection available?
What does a positive result mean?
What if the result is negative?
Can this test be used for prenatal diagnosis?
Is genetic counseling included?
Which cities is home sample collection available in?
Is this test covered by insurance?
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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.
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✓ 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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