PSPH Gene Phosphoserine phosphatase deficiency NGS Genetic Test
Short Name: PSPH Gene Test
Also known as: PSPH Deficiency Genetic Test, Phosphoserine Phosphatase Gene Test
PSPH Gene Phosphoserine phosphatase deficiency 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 from 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 accurately diagnose phosphoserine phosphatase deficiency by identifying mutations in the PSPH gene using next-generation sequencing. It aids in confirming the genetic basis of symptoms, guiding treatment strategies, facilitating genetic counseling for affected families, and enabling informed reproductive decisions.
- Test Code
- 2207
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks from sample receipt
- Fasting Required
- No
- Method
- Next-generation sequencing (NGS)
Sample Collection
A clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with phosphoserine phosphatase deficiency are recommended prior to testing.
Method: Venipuncture or finger-prick for FTA card
Laboratory Analysis
Blood sample is collected via venipuncture into an EDTA tube or using a FTA card for one drop of blood. The process is minimally invasive and takes a few minutes.
Report Delivery
The sample is processed for DNA extraction and next-generation sequencing. The DNA is analyzed in a certified laboratory with quality control measures.
Timeline: 3 to 4 Weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to accurately diagnose phosphoserine phosphatase deficiency by identifying mutations in the PSPH gene using next-generation sequencing. It aids in confirming the genetic basis of symptoms, guiding treatment strategies, facilitating genetic counseling for affected families, and enabling informed reproductive decisions.
How to Prepare
- Ensure proper patient identification
- Use sterile equipment for blood draw
- Label samples accurately with patient details
- For FTA cards, allow blood to dry completely before storage
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis of PSPH deficiency is crucial for managing symptoms and providing targeted care. NGS testing offers high accuracy for identifying mutations in the PSPH gene."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Incorrectly labeled or unlabeled samples
- Contaminated samples
Understanding Your Results
Positive
Detection of pathogenic or likely pathogenic variants in the PSPH gene confirms the diagnosis of phosphoserine phosphatase deficiency. Genetic counseling and management plans should be initiated.
Negative
No pathogenic variants identified in the PSPH gene. Clinical correlation and consideration of other genetic or metabolic tests may be necessary.
Variant of Uncertain Significance (VUS)
A genetic variant with insufficient evidence to classify as pathogenic or benign. Follow-up testing, family studies, and clinical evaluation are recommended.
Consult a geneticist or metabolic specialist immediately upon receiving a positive test result for comprehensive management. For negative or VUS results, discuss with the referring physician for further evaluation.
Limitations
- ⚠May not detect all possible mutations, including deep intronic variants
- ⚠Results may include variants of uncertain significance (VUS) requiring further investigation
- ⚠Does not rule out other genetic or metabolic disorders
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Minimal risk of infection
- ●Psychological impact of genetic results, addressed through counseling
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Incorrect sample handling
Compare With Similar Tests
| Test | PSPH Gene Phosphoserine phosphatase deficiency NGS Genetic Test | Whole Exome Sequencing | Metabolic Disorder Gene Panel | Chromosomal Microarray Analysis |
|---|---|---|---|---|
| Comparison | PSPH Gene Phosphoserine phosphatase deficiency NGS Genetic Test |
Frequently Asked Questions
What is PSPH gene phosphoserine phosphatase deficiency?
What are the symptoms of PSPH deficiency?
How is PSPH deficiency diagnosed?
What is the cost of the PSPH gene NGS test in India?
What samples are required for the test?
Is fasting required before the test?
How long does it take to get results?
Is home sample collection available?
What should I do before getting tested?
What does a positive test result mean?
Are there any risks associated with the test?
Does DNA Labs India provide raw data files?
Can the PSPH gene test be used for carrier screening?
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