KHK Gene Fructosuria essential NGS Genetic Test
Also known as: Essential Fructosuria, KHK Deficiency
KHK Gene Fructosuria essential NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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 detect mutations in the KHK gene for accurate diagnosis of fructosuria essential, enabling early management and genetic counseling.
- Test Code
- 4681
- 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
- NGS Technology
Sample Collection
No specific preparation required. Inform the healthcare provider about any medications or medical conditions.
Method: Blood draw or saliva collection
Laboratory Analysis
A blood sample will be drawn from a vein in the arm, or a saliva sample will be collected using a swab.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Resume normal activities.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To detect mutations in the KHK gene for accurate diagnosis of fructosuria essential, enabling early management and genetic counseling.
How to Prepare
- Ensure proper identification of the patient.
- Use sterile equipment for sample collection.
- Label the sample correctly with patient details.
- Transport the sample to the lab as per guidelines.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Understanding Your Results
No pathogenic variants detected
Normal result; no evidence of KHK gene mutations associated with fructosuria.
Action: Discuss with healthcare provider if symptoms persist.
Pathogenic variants detected
Abnormal result; indicates KHK gene mutations consistent with fructosuria essential.
Action: Seek genetic counseling and medical management for dietary modifications and monitoring.
If you experience symptoms of fructosuria, have a family history of the disorder, or receive abnormal test results, consult a healthcare professional or genetic counselor immediately.
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection.
- ●Potential psychological impact from genetic results; genetic counseling recommended.
Frequently Asked Questions
What is KHK Gene Fructosuria?
What causes KHK Gene Fructosuria?
What are the symptoms of KHK Gene Fructosuria?
How is KHK Gene Fructosuria diagnosed?
What is the NGS Genetic Test for KHK Gene Fructosuria?
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What sample is required for the test?
What is the cost of the test?
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