TCF4 Gene Pitt-Hopkins syndrome NGS Genetic Test
Short Name: TCF4 NGS Test
Also known as: Pitt-Hopkins Syndrome Genetic Test, TCF4 Gene Sequencing, NGS for TCF4
TCF4 Gene Pitt-Hopkins syndrome 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 delivered within 3 to 4 weeks after sample receipt.. 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 test is to confirm a diagnosis of Pitt-Hopkins syndrome in individuals presenting with characteristic clinical features such as severe intellectual disability, developmental delay, speech impairment, and distinct facial dysmorphism. It also aids in carrier testing for family members and provides information for genetic counseling and recurrence risk assessment.
- Test Code
- 5903
- CPT Code
- 81407
- ICD Code
- Q87.89
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are delivered within 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a clinical history and genetic counseling session are recommended before the test.
Method: Venipuncture or Finger-prick
Laboratory Analysis
Blood sample is collected by a trained phlebotomist. For FTA card, a simple finger-prick is sufficient.
Report Delivery
No specific aftercare is needed. The sample is sent to the laboratory for analysis.
Timeline: Reports are delivered within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm a diagnosis of Pitt-Hopkins syndrome in individuals presenting with characteristic clinical features such as severe intellectual disability, developmental delay, speech impairment, and distinct facial dysmorphism. It also aids in carrier testing for family members and provides information for genetic counseling and recurrence risk assessment.
How to Prepare
- Ensure the patient's identity is verified before sample collection.
- Use EDTA tube for blood collection; mix gently to prevent clotting.
- For FTA card, apply one drop of blood to the designated circle and allow to air dry.
- Label the sample with patient's name, date of birth, and collection date.
- Transport the sample to the laboratory at ambient temperature.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Pitt-Hopkins syndrome is often underdiagnosed due to overlapping features with other neurodevelopmental disorders. Genetic testing is essential for accurate diagnosis and early intervention."
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 delay without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Pitt-Hopkins syndrome. Genetic counseling is recommended for family planning.
Variant of uncertain significance (VUS)
Further testing or family studies may be needed to determine clinical significance.
No pathogenic variant detected
Does not rule out Pitt-Hopkins syndrome; consider other genetic causes or re-evaluation.
Consult a geneticist or pediatrician if the child shows signs of severe developmental delay, intellectual disability, or distinctive facial features. Early diagnosis can guide therapy and support.
Limitations
- ⚠This test detects mutations in the TCF4 gene only; other genetic causes of similar phenotypes are not covered.
- ⚠Variants of uncertain significance may be reported; further testing may be required.
- ⚠Large deletions/duplications may not be detected by NGS alone; additional testing may be recommended.
- ⚠Results should be interpreted in the context of clinical findings and family history.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving a genetic diagnosis
- ●Potential for uncertain results requiring further testing
Interfering Factors
- ●Insufficient or degraded DNA sample
- ●Contamination during sample collection
- ●Recent blood transfusion (may dilute DNA)
- ●Bone marrow transplant (may affect results)
Compare With Similar Tests
| Test | TCF4 Gene Pitt-Hopkins syndrome NGS Genetic Test | Chromosomal Microarray (CMA) | Whole Exome Sequencing (WES) | Sanger Sequencing |
|---|---|---|---|---|
| Comparison | TCF4 Gene Pitt-Hopkins syndrome NGS Genetic Test | CMA detects large chromosomal deletions/duplications, but not point mutations in TCF4. NGS is more sensitive for single-gene mutations. | WES covers all coding regions of the genome, but is more expensive and may take longer. Targeted TCF4 NGS is cost-effective for suspected PTHS. | Sanger sequencing is the gold standard for confirming specific mutations, but NGS is faster and can detect mosaicism. |
Frequently Asked Questions
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What sample is required for this test?
How long does it take to get results?
Is fasting required before the test?
Can this test be done on children?
What does a positive result mean?
What if the result is negative?
Is genetic counseling included?
Can home sample collection be arranged?
Is this test covered by insurance?
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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
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