NRXN1 Gene Pitt-Hopkins syndrome NGS Genetic Test
Short Name: NRXN1 NGS
Also known as: NRXN1 Gene Sequencing, Pitt-Hopkins Syndrome Genetic Test, NRXN1 Mutation Analysis
NRXN1 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 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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to confirm or rule out a diagnosis of Pitt-Hopkins syndrome by identifying pathogenic variants in the NRXN1 gene. It is also used for carrier testing in at-risk family members and for prenatal diagnosis in families with a known NRXN1 mutation.
- Test Code
- 5902
- 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 typically available within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, 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
A blood sample will be drawn by a trained phlebotomist. For FTA card, a few drops of blood will be placed on the card.
Report Delivery
No specific precautions are needed. The sample will be transported to the laboratory for analysis.
Timeline: Reports 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 test is to confirm or rule out a diagnosis of Pitt-Hopkins syndrome by identifying pathogenic variants in the NRXN1 gene. It is also used for carrier testing in at-risk family members and for prenatal diagnosis in families with a known NRXN1 mutation.
How to Prepare
- Ensure the patient's identity is verified
- Use EDTA vacutainer for blood collection
- For FTA card, apply blood drops to the designated circles
- Label the sample with patient's name and date of birth
- Transport the sample at ambient temperature
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic confirmation of Pitt-Hopkins syndrome is crucial for appropriate management and family counseling. NGS provides comprehensive analysis of the NRXN1 gene."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Insufficient sample volume
- Improper labeling
- Sample received after prolonged transit time
Understanding Your Results
Positive
A pathogenic or likely pathogenic variant in NRXN1 was detected, confirming the diagnosis of Pitt-Hopkins syndrome.
Negative
No pathogenic variants were detected in the NRXN1 gene. This does not exclude the possibility of other genetic causes.
Variant of Uncertain Significance (VUS)
A variant was found whose clinical significance is unknown. Further family segregation studies may be recommended.
If you or your child have symptoms suggestive of Pitt-Hopkins syndrome, such as developmental delay, intellectual disability, seizures, or breathing abnormalities, consult a clinical geneticist or pediatric neurologist for evaluation and genetic testing.
Limitations
- ⚠This test does not detect large deletions/duplications (CNVs) unless specifically requested
- ⚠Variants in genes other than NRXN1 that may cause similar phenotypes are not analyzed
- ⚠Variant of uncertain significance (VUS) may be reported; further family studies may be needed
- ⚠Mosaic mutations may not be detected with standard NGS
- ⚠Regulatory regions and deep intronic variants are not covered
Risks & Considerations
- ●No significant physical risks associated with blood draw
- ●Possible bruising or discomfort at the puncture site
- ●Psychological impact of receiving a genetic diagnosis
- ●Potential for variants of uncertain significance causing anxiety
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination during sample collection
- ●Presence of maternal cell contamination in prenatal samples
- ●Rare variants in non-coding regions not covered by NGS
Compare With Similar Tests
| Test | NRXN1 Gene Pitt-Hopkins syndrome NGS Genetic Test | Chromosomal Microarray (CMA) | Whole Exome Sequencing (WES) | Sanger Sequencing |
|---|---|---|---|---|
| Comparison | NRXN1 Gene Pitt-Hopkins syndrome NGS Genetic Test | CMA detects copy number variations (deletions/duplications) across the genome, but does not detect single nucleotide variants. NRXN1 NGS specifically sequences the gene for point mutations. | WES analyzes all coding regions of the genome, while NRXN1 NGS focuses only on the NRXN1 gene. WES is more comprehensive but more expensive and time-consuming. | Sanger sequencing is the gold standard for confirming specific variants, but it is limited to known mutations. NGS can detect novel variants across the entire gene. |
Frequently Asked Questions
What is the cost of the NRXN1 Gene Pitt-Hopkins syndrome NGS test?
What sample is required for this test?
How long does it take to get the results?
Is fasting required before the test?
Will I receive raw data files?
Can this test detect all types of NRXN1 mutations?
Is genetic counseling included?
What is Pitt-Hopkins syndrome?
Who should consider this test?
Is home sample collection available?
What is the accuracy of this test?
Can this test be used for prenatal diagnosis?
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