PKLR Gene Pyruvate kinase deficiency with hemolytic anemia NGS Genetic Test
Short Name: PKLR Gene NGS Test
Also known as: PKLR Gene Mutation Analysis, Pyruvate Kinase Deficiency Genetic Test, PKD NGS Panel, PKLR Sequencing Test, Hemolytic Anemia Genetic Panel - PKLR
PKLR Gene Pyruvate kinase deficiency with hemolytic anemia NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Bioinformatic Analysis, ACMG Variant Classification on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks from sample receipt at the laboratory. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of the PKLR Gene NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the PKLR gene responsible for pyruvate kinase deficiency with hemolytic anemia. This test enables definitive molecular diagnosis, differentiates PKD from other causes of hereditary hemolytic anemia, facilitates carrier detection in family members, supports informed genetic counseling and family planning, and guides clinical management decisions including the potential need for splenectomy or blood transfusion therapy.
- Test Code
- 2236
- 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
- 3 to 4 Weeks from sample receipt at the laboratory
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Bioinformatic Analysis, ACMG Variant Classification
Sample Collection
No special preparation such as fasting is required. Ensure the patient's clinical history and family history are documented. A genetic counseling session is recommended prior to sample collection to draw a pedigree chart of family members affected with pyruvate kinase deficiency.
Method: Venipuncture / FTA Card finger prick
Laboratory Analysis
A venous blood sample of 3-5 mL is collected in an EDTA (lavender-top) tube. Alternatively, one drop of blood can be collected on an FTA card. The sample should be labeled correctly with patient details and transported at ambient room temperature.
Report Delivery
The sample is transported to the DNA Labs India laboratory under ambient room temperature conditions. DNA extraction is performed followed by NGS library preparation and sequencing. Reports are delivered within 3 to 4 weeks through the online portal, email, or WhatsApp.
Timeline: 3 to 4 Weeks from sample receipt at the laboratory
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the PKLR Gene NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the PKLR gene responsible for pyruvate kinase deficiency with hemolytic anemia. This test enables definitive molecular diagnosis, differentiates PKD from other causes of hereditary hemolytic anemia, facilitates carrier detection in family members, supports informed genetic counseling and family planning, and guides clinical management decisions including the potential need for splenectomy or blood transfusion therapy.
How to Prepare
- Collect 3-5 mL venous blood in an EDTA (lavender-top) vacutainer tube.
- Alternatively, collect one drop of blood on an FTA card.
- Ensure proper patient identification and labeling of the sample.
- Do not freeze the sample. Maintain at ambient room temperature during transport.
- Transport the sample to the laboratory within 48 hours of collection.
- Document the patient's clinical history and family pedigree prior to testing.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Pyruvate kinase deficiency is the most common enzyme defect of the glycolytic pathway causing hereditary non-spherocytic hemolytic anemia. An accurate molecular diagnosis through NGS of the PKLR gene is essential for confirming the diagnosis, assessing disease severity, guiding treatment decisions such as splenectomy, and enabling informed genetic counseling for affected families. Early diagnosis can significantly improve patient outcomes by preventing complications of chronic hemolysis including gallstones, iron overload, and aplastic crises."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received without proper labeling or patient identification
- Clotted or hemolyzed blood sample in EDTA tube
- Sample collected in incorrect anticoagulant (e.g., heparin)
- Insufficient sample volume for DNA extraction
- Sample received beyond the acceptable stability window without prior arrangement
Understanding Your Results
Confirms the diagnosis of pyruvate kinase deficiency. Two copies of the mutant PKLR gene are present. Clinical correlation with hemolytic anemia symptoms is expected. Genetic counseling and family screening are recommended.
Result type: Pathogenic or Likely Pathogenic Variant (Homozygous)
Confirms the diagnosis of pyruvate kinase deficiency. Two different pathogenic variants are present on each allele of the PKLR gene. Disease severity may vary depending on the specific variant combination.
Result type: Pathogenic or Likely Pathogenic Variant (Compound Heterozygous)
The individual is a carrier of pyruvate kinase deficiency. Carriers are typically asymptomatic but can pass the variant to offspring. Genetic counseling for family planning is advised. Partner testing may be recommended.
Result type: Single Pathogenic Variant Detected (Heterozygous Carrier)
A variant was identified that currently cannot be classified as pathogenic or benign. Clinical correlation, family segregation analysis, and periodic re-evaluation as new data becomes available are recommended.
Result type: Variant of Uncertain Significance (VUS)
No pathogenic or likely pathogenic variants were identified in the PKLR gene. This result does not completely exclude other genetic or non-genetic causes of hemolytic anemia. Clinical correlation and further workup may be necessary.
Result type: No Pathogenic Variant Detected
Consult a hematologist or clinical geneticist if you or your child experience unexplained jaundice, chronic fatigue, shortness of breath, pale skin, dark urine, or an enlarged spleen. If there is a family history of pyruvate kinase deficiency or hereditary hemolytic anemia, seek genetic counseling. Seek immediate medical attention if symptoms of severe anemia, such as rapid heartbeat, chest pain, or extreme fatigue, develop. After receiving test results, discuss them with your physician or genetic counselor to understand the implications and management options.
Limitations
- ⚠This test does not detect large genomic rearrangements beyond the detection capability of the NGS panel.
- ⚠Intronic deep intronic variants and regulatory region variants outside the targeted regions may not be detected.
- ⚠Variants of Uncertain Significance (VUS) may be identified that cannot be definitively classified as pathogenic or benign.
- ⚠A negative result does not completely rule out pyruvate kinase deficiency if caused by variants in non-coding regions or novel mechanisms.
- ⚠Results should always be interpreted in conjunction with clinical findings and biochemical test results.
Risks & Considerations
- ●Minimal risk associated with blood collection: slight pain or bruising at the venipuncture site.
- ●Genetic test results may have psychological and emotional implications for the patient and family.
- ●Identification of variants of uncertain significance may cause anxiety and may require additional testing.
- ●Genetic information may have implications for insurance and family planning that should be discussed with a genetic counselor.
Interfering Factors
- ●Degraded or insufficient DNA quality from the sample
- ●Contamination of the sample during collection or transport
- ●Recent blood transfusion may dilute patient DNA with donor DNA
- ●Hemolysis of the sample may affect DNA extraction yield
Compare With Similar Tests
| Test | PKLR Gene Pyruvate kinase deficiency with hemolytic anemia NGS Genetic Test | Sanger Sequencing of PKLR Gene | Pyruvate Kinase Enzyme Activity Assay | Complete Blood Count (CBC) with Peripheral Smear |
|---|---|---|---|---|
| Comparison | PKLR Gene Pyruvate kinase deficiency with hemolytic anemia NGS Genetic Test |
Frequently Asked Questions
What is PKLR Gene Pyruvate Kinase Deficiency?
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Who should get this test?
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Is home sample collection available for this test?
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