PGK1 Gene Phosphoglycerate kinase 1 deficiency NGS Genetic Test
Short Name: PGK1 Deficiency NGS Test
Also known as: PGK1 deficiency genetic test, Phosphoglycerate kinase 1 NGS test, PGK1 gene mutation analysis
PGK1 Gene Phosphoglycerate kinase 1 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 The final report is usually available 3 to 4 weeks after the sample is received. It will be shared through email, WhatsApp, and the online patient portal.. 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 identify pathogenic or likely pathogenic variants in the PGK1 gene, confirm a diagnosis of phosphoglycerate kinase 1 deficiency in symptomatic individuals, identify asymptomatic carriers in affected families, and facilitate informed genetic counseling, clinical management, and recurrence risk assessment.
- Test Code
- 4463
- ICD Code
- D55.2
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- The final report is usually available 3 to 4 weeks after the sample is received. It will be shared through email, WhatsApp, and the online patient portal.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. The referring clinician will provide a clinical history and may refer the patient to a genetic counselling session. We recommend preparing a list of affected and unaffected family members to draw an accurate pedigree chart.
Method: Peripheral blood draw / dried blood spot on FTA card
Laboratory Analysis
During the sample collection, a small peripheral blood sample is drawn, or a dried blood spot is collected on an FTA card. The procedure is quick and routine. Genetic counselling is offered before or after the test.
Report Delivery
There are no restrictions after sample collection. The patient may resume everyday activities. The laboratory will share the report within 3 to 4 weeks, after which a genetic counsellor can explain the results and answer questions.
Timeline: The final report is usually available 3 to 4 weeks after the sample is received. It will be shared through email, WhatsApp, and the online patient portal.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the PGK1 gene, confirm a diagnosis of phosphoglycerate kinase 1 deficiency in symptomatic individuals, identify asymptomatic carriers in affected families, and facilitate informed genetic counseling, clinical management, and recurrence risk assessment.
How to Prepare
- Please ensure the sample container is labelled with the patient's full name and unique ID
- Submit a signed consent form and test requisition form with relevant clinical history
- For FTA card collection, follow the kit instructions exactly and allow the spot to dry before packing
- For blood samples, use an EDTA vacutainer and do not refrigerate unless instructed
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"The clinical spectrum of PGK1 deficiency overlaps with other neuromuscular and haematological conditions; molecular confirmation is essential for targeted management and family counselling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or haemolysed blood sample
- Inadequate DNA quantity or severely degraded DNA
- Unlabeled or mislabelled sample
- Missing consent or incomplete clinical information
Understanding Your Results
Positive
A pathogenic or likely pathogenic variant in the PGK1 gene was detected. This can confirm the diagnosis in a symptomatic individual or establish carrier status in an at-risk female.
Negative
No pathogenic or likely pathogenic variant was detected. This does not completely exclude PGK1 deficiency because of technical and genetic limitations.
Variant of uncertain significance (VUS)
A genetic variant was detected but its clinical significance is currently unclear. Additional family segregation studies or functional studies may be required.
Consult a neurologist, clinical geneticist, or haematologist if the patient has unexplained muscular symptoms, hemolytic anaemia, neurodevelopmental delay, or a family history of PGK1 deficiency, and before undergoing genetic testing.
Limitations
- ⚠Standard NGS may not detect large structural rearrangements, deep intronic variants, or variants in regulatory regions
- ⚠A negative result does not exclude PGK1 deficiency or another genetic cause with similar symptoms
- ⚠Variants of uncertain significance may require additional family studies or functional analysis
Risks & Considerations
- ●Slight pain, bruising, or bleeding at the venipuncture site
- ●Rare risk of infection
- ●Psychological impact of a genetic diagnosis
- ●Potential implications for biological family members
Interfering Factors
- ●Recent allogeneic bone marrow transplantation may lead to donor DNA being analysed instead of the patient's own DNA
- ●DNA degradation due to improper transport, storage, or sample handling
- ●Contamination of the sample with another person's DNA
- ●Sample mislabelling or request form errors
Compare With Similar Tests
| Test | PGK1 Gene Phosphoglycerate kinase 1 deficiency NGS Genetic Test | |||
|---|---|---|---|---|
| Comparison | PGK1 Gene Phosphoglycerate kinase 1 deficiency NGS Genetic Test |
Frequently Asked Questions
What is PGK1 deficiency?
What causes PGK1 deficiency?
How is PGK1 deficiency inherited?
What are the symptoms of PGK1 deficiency?
Who should take this NGS genetic test?
What is the cost of this test?
What sample is needed and is fasting required?
How is the PGK1 NGS test performed?
When will I get the report?
Will I receive raw data files?
Is genetic counselling included?
Does a negative test rule out PGK1 deficiency?
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