PAH Gene Phenylketonuria NGS Genetic Test
Short Name: PAH NGS Genetic Test
Also known as: PKU Genetic Test, PAH Gene Sequencing, Phenylketonuria DNA Test
PAH Gene Phenylketonuria 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 Reports available in 3 to 4 weeks after 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
To identify mutations in the PAH gene for accurate diagnosis of Phenylketonuria (PKU), enabling early intervention, treatment monitoring, carrier screening, and genetic counseling to prevent severe neurological complications.
- Test Code
- 2205
- ICD Code
- E70.0
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports available in 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
Provide detailed clinical history and a pedigree chart of family members affected with PKU. Genetic counseling session is recommended prior to testing.
Method: Venipuncture or FTA card spot collection
Laboratory Analysis
Blood sample is collected via venipuncture into an EDTA tube or a spot on an FTA card. For home collection, a trained phlebotomist will visit at your convenience.
Report Delivery
Store the sample at room temperature and transport to the lab as per instructions. Avoid freezing unless specified.
Timeline: Reports available in 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
To identify mutations in the PAH gene for accurate diagnosis of Phenylketonuria (PKU), enabling early intervention, treatment monitoring, carrier screening, and genetic counseling to prevent severe neurological complications.
How to Prepare
- Ensure proper identification and labeling of the sample
- Use sterile collection techniques to prevent contamination
- For FTA cards, apply blood correctly and allow to dry completely
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"As an OB-GYN, I recommend PAH gene testing for families with PKU history to enable early intervention and family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Hemolyzed, clotted, or contaminated samples
- Improperly labeled or mismatched samples
- Samples older than stability period
Understanding Your Results
Pathogenic variants detected
Confirms diagnosis of PKU; dietary management and monitoring required.
Likely pathogenic variants detected
Probable PKU; clinical correlation and further testing recommended.
Variants of uncertain significance (VUS)
Clinical significance unknown; repeat testing or family studies may be needed.
No pathogenic variants detected
PKU unlikely due to PAH gene mutations; consider other metabolic disorders.
Consult a geneticist or metabolic specialist immediately if pathogenic variants are detected, for symptoms suggestive of PKU, or if family history indicates risk.
Limitations
- ⚠May not detect all possible genetic variants, including deep intronic mutations
- ⚠Does not distinguish between PKU and BH4 deficiency without additional testing
- ⚠Results require interpretation by a genetic counselor or specialist
- ⚠Limited to the PAH gene; other metabolic disorders may need separate tests
Risks & Considerations
- ●Minor pain or bruising at the blood draw site
- ●Extremely rare risk of infection or fainting
- ●Psychological impact of genetic results; counseling recommended
Interfering Factors
- ●Sample contamination during collection or processing
- ●Degraded DNA due to improper storage or handling
- ●Hemolysis in blood samples affecting DNA quality
Compare With Similar Tests
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