SLC7A5 Gene Phenylketonuria modifier, SLC7A5 related NGS Genetic Test
Short Name: SLC7A5 PKU Modifier Test
Also known as: SLC7A5 Related Phenylketonuria, PKU Modifier Gene Test, SLC7A5 NGS Test
SLC7A5 Gene Phenylketonuria modifier, SLC7A5 related 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 3-4 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 mutations in the SLC7A5 gene that may modify the severity of Phenylketonuria (PKU), aiding in personalized treatment and management strategies.
- Test Code
- 2209
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3-4 weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Provide clinical history and family pedigree. No specific preparation needed.
Method: Venipuncture or Finger prick
Laboratory Analysis
Blood sample will be drawn by a trained phlebotomist.
Report Delivery
Apply pressure to the puncture site. Normal activities can be resumed.
Timeline: 3-4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify mutations in the SLC7A5 gene that may modify the severity of Phenylketonuria (PKU), aiding in personalized treatment and management strategies.
How to Prepare
- Avoid strenuous activity before sample collection
- Bring identification and prescription if available
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Hemolyzed sample
- Incorrect container
Understanding Your Results
If PKU symptoms are present or worsen, or for genetic counseling after receiving test results.
Limitations
- ⚠Test may not detect all possible mutations
- ⚠Results require interpretation by a genetic specialist
Risks & Considerations
- ●Minimal risk from blood draw: bruising, infection
- ●Psychological impact of genetic results
Frequently Asked Questions
What is the SLC7A5 gene and its role in Phenylketonuria (PKU)?
How can mutations in SLC7A5 modify PKU symptoms?
What are the common symptoms of PKU related to SLC7A5?
How is SLC7A5-related PKU diagnosed?
What does the SLC7A5 NGS genetic test involve?
What is the cost of the SLC7A5 genetic test in India?
Is home sample collection available for this test?
How long does it take to receive the test results?
What samples are accepted for the test?
Can this test be performed on children or newborns?
What should I do if the test reveals mutations?
Is genetic counseling recommended before or after the test?
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Reference Laboratory Services
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