PTPRC Gene Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive NGS Genetic Test
Short Name: PTPRC Gene SCID NGS Test
Also known as: PTPRC Gene SCID Test, SCID Genetic Test, PTPRC Mutation Analysis
PTPRC Gene Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive 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 3 to 4 weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
To identify pathogenic mutations in the PTPRC gene responsible for severe combined immunodeficiency (SCID), specifically the T cell-negative, B-cell/natural killer-cell positive subtype, aiding in diagnosis, management, and genetic counseling.
- Test Code
- 2466
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Clinical history review and genetic counseling session to draw a pedigree chart of affected family members are recommended.
Method: Venipuncture
Laboratory Analysis
Blood sample collected via venipuncture using sterile technique; alternatively, extracted DNA or one drop of blood on FTA card can be used.
Report Delivery
Sample is transported to the laboratory under appropriate conditions for NGS analysis.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify pathogenic mutations in the PTPRC gene responsible for severe combined immunodeficiency (SCID), specifically the T cell-negative, B-cell/natural killer-cell positive subtype, aiding in diagnosis, management, and genetic counseling.
How to Prepare
- Ensure proper patient identification and sample labeling
- Use sterile collection equipment to avoid contamination
- Transport blood samples at room temperature within 48 hours
- For FTA cards, follow manufacturer instructions for blood application
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early diagnosis through NGS testing is crucial for managing SCID and improving patient outcomes, especially in infants with recurrent infections."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Incorrect sample type or container
- Samples without proper labeling or documentation
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of PTPRC-related SCID; genetic counseling and specialist referral for management recommended.
Negative for pathogenic variants
No causative mutations detected in PTPRC gene; clinical correlation needed as other genes may be involved.
Variant of uncertain significance (VUS)
Further testing, family studies, or functional assays may be required to determine clinical significance.
If an individual exhibits symptoms of SCID such as recurrent severe infections, failure to thrive, or chronic diarrhea, or if there is a known family history of SCID or immunodeficiency disorders.
Limitations
- ⚠May not detect all genetic variants, including large deletions or duplications
- ⚠Requires genetic counseling for accurate interpretation
- ⚠Not recommended as a general population screening test
- ⚠Results may have variants of uncertain significance requiring further studies
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Potential psychological impact of genetic results, requiring counseling
- ●No significant physical risks associated with the test itself
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Technical errors in sequencing or analysis
- ●Hemolyzed or insufficient sample volume
Compare With Similar Tests
| Test | PTPRC Gene Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive NGS Genetic Test | IL2RG Gene SCID NGS Test | ADA Gene SCID NGS Test | JAK3 Gene SCID Test | Comprehensive SCID Panel |
|---|---|---|---|---|---|
| Comparison | PTPRC Gene Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive NGS Genetic Test |
Frequently Asked Questions
What is PTPRC Gene SCID?
What are the symptoms of PTPRC Gene SCID?
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