TAF2 Gene Mental retardation, autosomal recessive type 40 NGS Genetic Test
Short Name: TAF2 NGS Test
Also known as: TAF2-Related Intellectual Disability Type 40, Autosomal Recessive Mental Retardation 40, TAF2 Gene Sequencing Test
TAF2 Gene Mental retardation, autosomal recessive type 40 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 Reports are generally available in 3-4 weeks from sample receipt. Raw data files are released with the final clinical report.. 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 look for disease-causing variants in the TAF2 gene in an individual who has features suggestive of autosomal recessive type 40 mental retardation. It can also be used to assess carrier status in at-risk family members once the familial variant has been identified, and to support reproductive counselling.
- Test Code
- 4265
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- Reports are generally available in 3-4 weeks from sample receipt. Raw data files are released with the final clinical report.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Please bring the completed prescription/requisition with clinical history. A genetic counselling session to draw a pedigree chart of family members affected with TAF2-related mental retardation will be arranged before testing.
Method: Venipuncture / Blood spot collection / DNA submission
Laboratory Analysis
A trained phlebotomist will collect a small blood sample. If you are providing extracted DNA or FTA card sample, the submission instructions will be followed.
Report Delivery
No post-procedure restrictions. You can resume daily activities immediately.
Timeline: Reports are generally available in 3-4 weeks from sample receipt. Raw data files are released with the final clinical report.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this test is to look for disease-causing variants in the TAF2 gene in an individual who has features suggestive of autosomal recessive type 40 mental retardation. It can also be used to assess carrier status in at-risk family members once the familial variant has been identified, and to support reproductive counselling.
How to Prepare
- No fasting is required.
- Fill the clinical history and pedigree form completely.
- For FTA card blood spot, allow the spot to air dry completely before sealing.
- Label the sample with correct patient details and collection date.
- Ensure the sample reaches the laboratory at the correct temperature.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic counseling before testing helps understand the pattern of inheritance, recurrence risk, and implications for family members. In this autosomal recessive condition, parents of an affected child are usually unaffected carriers. Carrier testing for at-risk relatives may be considered after the family-specific variant is known."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Haemolysed or clotted blood sample
- Incorrectly labelled sample or requisition
- DNA sample without adequate clinical history or pedigree
- Sample received in inappropriate transport medium or temperature
Understanding Your Results
No pathogenic/likely pathogenic variant detected
Negative result. TAF2 sequencing does not support the molecular diagnosis, although other genetic causes remain possible.
Heterozygous variant of uncertain significance (VUS)
A variant was identified but its clinical significance is unclear. Additional family studies may be recommended.
Heterozygous pathogenic/likely pathogenic variant
A single TAF2 variant is not expected to explain autosomal recessive mental retardation unless a second variant is also present. Carrier status may be possible.
Biallelic pathogenic/likely pathogenic variants
Consistent with a molecular diagnosis of TAF2-related autosomal recessive type 40 mental retardation.
If you or your child has unexplained intellectual disability, developmental delay, seizures, or relevant facial dysmorphism, or if a family member has been diagnosed with TAF2-related mental retardation, please consult a clinical geneticist, neurologist, or genetic counselor for interpretation and further advice.
Limitations
- ⚠NGS may miss large deletions, duplications, repeat expansions, methylation defects, and structural rearrangements.
- ⚠Regions with high GC content or pseudogene homology may have lower sequencing coverage.
- ⚠A negative result does not exclude all genetic causes of intellectual disability.
- ⚠Variant classification may change over time as new evidence emerges.
Risks & Considerations
- ●Minor bruising, bleeding, or discomfort at the puncture site
- ●Very low risk of infection
- ●Psychological impact of genetic test results
Interfering Factors
- ●Maternal cell contamination in paediatric samples
- ●Low DNA yield or degraded DNA
- ●Presence of homologous sequences may complicate read alignment
- ●Variants in deep intronic or untranslated regions may not be covered by this test
- ●Patient with an undiagnosed syndromic condition may need a broader multi-gene panel or exome sequencing
Compare With Similar Tests
| Test | TAF2 Gene Mental retardation, autosomal recessive type 40 NGS Genetic Test | TAF2 Single-Gene NGS | TAF2 Single-Gene NGS | TAF2 Single-Gene NGS |
|---|---|---|---|---|
| Comparison | TAF2 Gene Mental retardation, autosomal recessive type 40 NGS Genetic Test |
Frequently Asked Questions
What is the cost of the TAF2 gene NGS genetic test?
What is TAF2 gene mental retardation, autosomal recessive type 40?
What sample is needed for this test?
Do I need to fast before the test?
Is home sample collection available?
When will I get the report?
Will I receive the raw data files along with the clinical report?
Who should interpret the test report?
What does a positive result mean?
Can this test detect carriers of TAF2-related mental retardation?
Who should consider this test?
What are the limitations of this NGS test?
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