PKLR Gene Adenosine triphosphate, elevated, of erythrocytes NGS Genetic Test
Short Name: PKLR Gene NGS Test
Also known as: PKLR Gene Mutation Analysis, Pyruvate Kinase Deficiency Genetic Test, PKLR NGS Sequencing Test, Erythrocyte ATP Deficiency Genetic Test, Hereditary Non-Spherocytic Hemolytic Anemia Genetic Test
PKLR Gene Adenosine triphosphate, elevated, of erythrocytes NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation of Variants, Bioinformatics Analysis on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from the date of sample collection.. 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 the PKLR Gene NGS Genetic Test is to identify mutations in the PKLR gene that cause pyruvate kinase deficiency, leading to reduced ATP production in erythrocytes and resulting in chronic hemolytic anemia. This test aids in confirming a clinical diagnosis, differentiating PKD from other hemolytic anemias, identifying carriers within families, guiding treatment decisions such as splenectomy, and facilitating genetic counselling for affected families regarding recurrence risks.
- Test Code
- 5563
- CPT Code
- 81479
- ICD Code
- D55.2
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample collection.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation of Variants, Bioinformatics Analysis
Sample Collection
No fasting is required. Provide complete clinical history and family pedigree information. A genetic counselling session is recommended prior to sample collection to draw a pedigree chart of family members affected with PKLR gene-related conditions. Inform the lab of any recent blood transfusions.
Method: Venipuncture
Laboratory Analysis
A venipuncture blood draw of approximately 3-5 mL into an EDTA (lavender top) vacutainer is performed. Alternatively, one drop of blood on an FTA card or previously extracted DNA may be submitted. The procedure typically takes less than 5 minutes.
Report Delivery
Apply pressure to the puncture site with a cotton ball for 3-5 minutes. Mild bruising may occur. No specific post-collection restrictions are required. Results will be available within 3 to 4 weeks via online portal, email, or WhatsApp.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample collection.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the PKLR Gene NGS Genetic Test is to identify mutations in the PKLR gene that cause pyruvate kinase deficiency, leading to reduced ATP production in erythrocytes and resulting in chronic hemolytic anemia. This test aids in confirming a clinical diagnosis, differentiating PKD from other hemolytic anemias, identifying carriers within families, guiding treatment decisions such as splenectomy, and facilitating genetic counselling for affected families regarding recurrence risks.
How to Prepare
- Collect 3-5 mL of venous blood in an EDTA (lavender top) vacutainer
- Alternatively, one drop of blood on an FTA card is acceptable
- Previously extracted DNA (minimum 50 ng/µL) may also be submitted
- Label the sample clearly with patient name, date of birth, and sample ID
- Transport the sample at ambient room temperature
- Avoid hemolyzed or clotted samples
- Inform the laboratory of any recent blood transfusions
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Pyruvate kinase deficiency is the most common cause of hereditary non-spherocytic hemolytic anemia. Early genetic confirmation through NGS-based PKLR gene analysis allows for precise diagnosis, appropriate clinical management including splenectomy assessment, and informed genetic counselling for affected families. I recommend this test for any patient presenting with unexplained chronic hemolytic anemia with a negative direct antiglobulin test."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Samples with insufficient volume
- Improperly labeled or unlabeled samples
- Samples collected in incorrect anticoagulant (e.g., heparin instead of EDTA)
- Severely degraded DNA samples below quality thresholds
Understanding Your Results
No Pathogenic Variant Detected
No disease-causing mutations were identified in the PKLR gene. This result does not completely exclude pyruvate kinase deficiency if caused by variants in non-coding or regulatory regions not covered by this test. Clinical correlation and additional testing may be warranted.
Pathogenic or Likely Pathogenic Variant(s) Detected (Homozygous)
Two copies of a pathogenic or likely pathogenic variant were identified, consistent with a diagnosis of pyruvate kinase deficiency. This is typically associated with clinical disease manifesting as chronic hemolytic anemia.
Pathogenic or Likely Pathogenic Variant(s) Detected (Compound Heterozygous)
Two different pathogenic or likely pathogenic variants were identified on separate alleles of the PKLR gene, consistent with a diagnosis of pyruvate kinase deficiency. Clinical severity may vary depending on the specific variants.
Pathogenic or Likely Pathogenic Variant Detected (Heterozygous Carrier)
A single pathogenic or likely pathogenic variant was identified, indicating carrier status. Carriers are typically asymptomatic but may have mildly reduced pyruvate kinase activity. Genetic counselling is recommended for family planning purposes.
Variant of Uncertain Significance (VUS) Detected
A genetic variant was identified whose clinical significance is currently unknown. Further family studies, functional analysis, or clinical correlation may be needed to determine its role in disease. Genetic counselling is recommended.
Consult a hematologist or geneticist if you experience symptoms such as unexplained anemia, persistent jaundice, dark urine, chronic fatigue, or an enlarged spleen. If a family member has been diagnosed with pyruvate kinase deficiency, genetic counselling is recommended to understand your risk and discuss testing options. If your test results indicate a pathogenic variant or a variant of uncertain significance, seek genetic counselling for appropriate interpretation and management guidance.
Limitations
- ⚠This test detects variants in the PKLR gene only and does not screen for other causes of hemolytic anemia
- ⚠Deep intronic variants or large structural rearrangements beyond the targeted NGS panel may not be detected
- ⚠Variants of uncertain significance (VUS) may be identified and may require further clinical correlation
- ⚠A negative result does not completely exclude pyruvate kinase deficiency if caused by regulatory region variants not covered by the test
- ⚠Results should always be interpreted in conjunction with clinical findings and family history
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Rare risk of infection at the puncture site
- ●Possibility of identifying variants of uncertain significance (VUS) that may cause anxiety
- ●Potential psychological impact of genetic diagnosis on the patient and family members
Interfering Factors
- ●Degraded or insufficient DNA quality may affect sequencing accuracy
- ●Recent blood transfusion within the past 3 months may interfere with variant detection
- ●Contamination during sample collection or processing
- ●Hemolyzed blood samples may reduce DNA yield
Compare With Similar Tests
| Test | PKLR Gene Adenosine triphosphate, elevated, of erythrocytes NGS Genetic Test | Pyruvate Kinase Enzyme Activity Assay | Sanger Sequencing of PKLR Gene | Complete Blood Count (CBC) with Reticulocyte Count |
|---|---|---|---|---|
| Comparison | PKLR Gene Adenosine triphosphate, elevated, of erythrocytes NGS Genetic Test | The enzyme activity assay measures functional pyruvate kinase activity in red blood cells but cannot identify the specific genetic mutation. NGS testing provides precise mutation identification, enabling carrier detection, genotype-phenotype correlation, and informed genetic counselling. | Sanger sequencing examines one exon at a time and may miss large deletions or complex rearrangements. NGS provides comprehensive coverage of the entire PKLR gene with higher throughput and sensitivity for detecting multiple variant types simultaneously. | CBC and reticulocyte count can indicate hemolytic anemia but cannot identify the underlying genetic cause. The PKLR NGS test provides definitive molecular diagnosis when hemolytic anemia is suspected to be due to pyruvate kinase deficiency. |
Frequently Asked Questions
What is the PKLR Gene Adenosine Triphosphate NGS Genetic Test?
Who should get the PKLR Gene NGS Genetic Test?
What is pyruvate kinase deficiency?
What sample is required for this test?
How much does the PKLR Gene NGS Genetic Test cost?
How long does it take to get the results?
Is fasting required before the test?
What does a positive result mean?
What does a negative result mean?
Does DNA Labs India provide raw data files with the report?
Is home sample collection available for this test?
Can this test be used for prenatal or carrier screening?
Related Tests
Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
Book Your Test
Enter your details and we'll connect you within 15 minutes.