CELF6 Gene Autism, CELF6 Related NGS Genetic Test
Short Name: CELF6 Gene Autism NGS Test
Also known as: CELF6 Gene Mutation Test, Autism NGS Genetic Panel, CELF6 Related Genetic Analysis
CELF6 Gene Autism, CELF6 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 NGS testing involves sequencing, bioinformatics analysis, and manual variant interpretation. Therefore, the report is generally delivered in 3 to 4 weeks.. 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 CELF6 gene autism NGS genetic test is to detect sequence variants in the CELF6 gene that may increase susceptibility to autism spectrum disorder. The test uses targeted NGS to read the gene's coding regions and splice junctions. Results help clinicians and families understand whether a CELF6 variant is present and support informed decisions about early intervention, recurrence risk counselling, and further genetic testing. It should be used as part of a comprehensive autism evaluation and not as a population-based screening test.
- Test Code
- 3917
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- NGS testing involves sequencing, bioinformatics analysis, and manual variant interpretation. Therefore, the report is generally delivered in 3 to 4 weeks.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. Carry all available clinical records, neurodevelopmental assessment reports, and family history information to the counselling session. A genetic counselling session to draw a pedigree chart is advised before the CELF6 NGS genetic test.
Method: Peripheral venipuncture / Finger-prick spot on FTA card
Laboratory Analysis
For venous blood, a trained phlebotomist will collect a small amount of blood in an EDTA tube. For FTA card, a simple finger-prick blood spot is applied to the card and allowed to air-dry. The procedure is quick and minimally invasive.
Report Delivery
You may resume normal activities immediately. The sample will be transported to the laboratory under controlled conditions. Reports are generally issued in 3 to 4 weeks and should be discussed with the doctor or genetic counsellor.
Timeline: NGS testing involves sequencing, bioinformatics analysis, and manual variant interpretation. Therefore, the report is generally delivered in 3 to 4 weeks.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the CELF6 gene autism NGS genetic test is to detect sequence variants in the CELF6 gene that may increase susceptibility to autism spectrum disorder. The test uses targeted NGS to read the gene's coding regions and splice junctions. Results help clinicians and families understand whether a CELF6 variant is present and support informed decisions about early intervention, recurrence risk counselling, and further genetic testing. It should be used as part of a comprehensive autism evaluation and not as a population-based screening test.
How to Prepare
- No fasting or special preparation is required
- Carry the clinical referral and past neurodevelopmental reports
- Ensure the sample is labeled with the patient's full name and date of birth
- For FTA card collection, allow the blood spot to air-dry completely before packaging
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Autism evaluation requires a multidisciplinary approach. When a specific gene is suspected, targeted NGS can be helpful, but a normal result should never be used to exclude autism. In women with a known CELF6 variant, pre-conception genetic counselling is recommended to discuss recurrence risks and reproductive options."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or visibly hemolyzed blood sample
- Incorrect or missing patient identification
- Insufficient sample volume
- FTA card contaminated, wet, or not properly dried
Understanding Your Results
Supports a genetic contribution from CELF6; genetic counselling and family segregation testing are recommended.
Result type: Pathogenic / Likely pathogenic variant identified
The clinical significance is currently unclear; additional family studies or functional evidence may help clarify this finding.
Result type: Variants of uncertain significance (VUS)
No clinically reportable CELF6 variant was identified. This does not exclude autism or a genetic cause in another gene.
Result type: No pathogenic variant detected
This variant is not considered disease-causing and does not explain the clinical presentation.
Result type: Benign / Likely benign variant identified
If the test detects a pathogenic or likely pathogenic variant, or if you have questions about the implications of a negative result or a VUS, please discuss the report with your referring physician and a genetic counsellor.
Limitations
- ⚠This test covers only the CELF6 gene and does not evaluate all autism-associated genes
- ⚠Large deletions, duplications, repeat expansions, and structural variants may not be reliably detected
- ⚠A negative result does not rule out autism spectrum disorder or a genetic cause
- ⚠Variants of uncertain significance may be identified; further family testing may be needed
- ⚠Results should be interpreted in correlation with clinical features and developmental assessment
Risks & Considerations
- ●Minor bruising or bleeding at the venipuncture site
- ●Feeling dizzy or light-headed during blood collection
- ●Very small risk of local infection or hematoma
Interfering Factors
- ●Low DNA quality or quantity
- ●Sample contamination during collection or processing
- ●PCR or sequencing artifacts
- ●Complex structural rearrangements not detectable by targeted NGS
- ●Variants in regulatory or deep intronic regions may not be covered
Compare With Similar Tests
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| Comparison | CELF6 Gene Autism, CELF6 Related NGS Genetic Test |
Frequently Asked Questions
What is the CELF6 gene autism NGS genetic test?
What is the cost of CELF6 gene autism test in India?
Which sample is needed for this test?
Is fasting required before the CELF6 NGS test?
How long will the CELF6 NGS test reports take?
Does a negative result mean my child does not have autism?
Why is genetic counselling part of this test?
Can this test detect all genetic causes of autism?
Who should order this test?
Is home sample collection available for this test?
What does a variant of uncertain significance (VUS) mean?
Is the CELF6 test useful for prenatal screening?
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