EFCAB13 Gene Autism, EFCAB13 Related NGS Genetic Test
Short Name: EFCAB13 Gene Autism NGS
Also known as: EFCAB13 Autism Gene Test, EFCAB13 Related NGS Genetic Test, Autism Genetic Test EFCAB13
EFCAB13 Gene Autism, EFCAB13 Related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger sequencing for variant confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in From the date of sample receipt at the laboratory, the report will be issued within 3 to 4 weeks. Test starts after sample validation.. 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 primary purpose of this test is to identify pathogenic variants in the EFCAB13 gene that are associated with Autism Spectrum Disorder. This information aids in confirming a genetic cause of autism, guiding recurrence risk assessment for families, and supporting early intervention strategies. It also helps differentiate genetic forms of ASD from other neurodevelopmental conditions and can provide a definitive molecular diagnosis when clinical features are suggestive.
- Test Code
- 3913
- ICD Code
- F84.0
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- From the date of sample receipt at the laboratory, the report will be issued within 3 to 4 weeks. Test starts after sample validation.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger sequencing for variant confirmation
Sample Collection
No specific preparation is required. Complete the pre-test genetic counseling session and provide a detailed family history. Inform the medical team about any blood transfusions or active infections.
Method: Peripheral venipuncture or blood spot
Laboratory Analysis
Blood sample is drawn by a trained phlebotomist. If using FTA card, apply the blood spot as directed. For extracted DNA samples, provide the purified DNA specimen as per instructions.
Report Delivery
The sample is stored appropriately and sent to the lab. No special precautions are needed. Results will be communicated via the selected report delivery method within 3 to 4 weeks.
Timeline: From the date of sample receipt at the laboratory, the report will be issued within 3 to 4 weeks. Test starts after sample validation.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this test is to identify pathogenic variants in the EFCAB13 gene that are associated with Autism Spectrum Disorder. This information aids in confirming a genetic cause of autism, guiding recurrence risk assessment for families, and supporting early intervention strategies. It also helps differentiate genetic forms of ASD from other neurodevelopmental conditions and can provide a definitive molecular diagnosis when clinical features are suggestive.
How to Prepare
- Use EDTA vacutainer for whole blood collection.
- For FTA card, apply 5 blood spots evenly.
- Label the sample with patient ID and date.
- Transport at ambient temperature within 24 hours.
- Avoid hemolysis or clotting.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for EFCAB13 gene mutations is essential for accurate ASD diagnosis, family risk assessment, and personalized management. This NGS-based test provides comprehensive coverage with high sensitivity."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient blood volume
- Improperly labeled or unlabeled samples
- Sample received after 7 days without refrigeration
- FTA card with inadequate spots
- Contaminated sample
Understanding Your Results
Pathogenic variant detected
The variant is causative for the clinical phenotype. Genetic counseling and family testing are recommended.
Likely pathogenic variant detected
The variant is likely causative. Additional studies or family segregation analysis may be needed.
Variant of uncertain significance (VUS)
The significance is unknown; may require further testing, parental studies, or reclassification in the future.
No pathogenic variants
No evidence of EFCAB13-related autism. The cause may be genetic elsewhere or non-genetic.
If the test identifies a pathogenic or likely pathogenic variant, a consultation with a clinical geneticist or pediatric neurologist is strongly advised to understand the implications, discuss management options, and assess family risks. For variants of uncertain significance, an annual re-review of the finding may be recommended.
Limitations
- ⚠This test analyzes only the EFCAB13 gene and does not rule out other genetic or non-genetic causes of autism.
- ⚠Large deletions, duplications, or structural rearrangements may not be detected by standard NGS.
- ⚠Variant interpretation may require additional family studies and/or functional validation.
- ⚠Identification of a variant of uncertain significance (VUS) may not provide a definitive diagnosis.
- ⚠Regulatory and ethical considerations require genetic counseling before and after testing.
Risks & Considerations
- ●Minor bruising or pain at venipuncture site
- ●Rare risk of infection from non-sterile technique
- ●Psychological impact from unexpected genetic information
- ●Possibility of incidental findings
Interfering Factors
- ●Insufficient DNA quantity or quality from the sample
- ●Contamination of sample during collection or handling
- ●Recent blood transfusion (can dilute DNA from patient's own cells)
- ●Hematological malignancies may interfere with DNA extraction
- ●Incorrect sample labeling or misidentification
Compare With Similar Tests
| Test | EFCAB13 Gene Autism, EFCAB13 Related NGS Genetic Test | Chromosomal Microarray (CMA) | Whole Exome Sequencing (WES) | Autism NGS Panel |
|---|---|---|---|---|
| Comparison | EFCAB13 Gene Autism, EFCAB13 Related NGS Genetic Test |
Frequently Asked Questions
What is the EFCAB13 gene?
How does EFCAB13 gene mutation cause autism?
What is the cost of EFCAB13 gene autism genetic testing?
What sample is required for this test?
How long does it take to get results?
What does a negative result mean?
What is a variant of uncertain significance (VUS)?
Can this test be used as a diagnostic tool for autism?
Is genetic counseling available with this test?
Which cities are covered for free home sample collection?
Who should consider taking this test?
What is the next step if a mutation is found?
Related Tests
Angelman Syndrome Test
₹10,000Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test
₹14,000Episodic Ataxia Type 1 Hotspot Test
₹11,500Episodic Ataxia Comprehensive Profile Hotspot Test
₹16,000Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test
₹7,500Analyzer 18 SMA 18 Test Panel
₹1,755Reference 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.
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.
Book Your Test
Enter your details and we'll connect you within 15 minutes.