PDP1 Gene Pyruvate dehydrogenase phosphatase deficiency NGS Genetic Test
Short Name: PDP1 Gene NGS Test
Also known as: PDP1 Gene Mutation Test, Pyruvate Dehydrogenase Phosphatase Deficiency Genetic Test, PDP1 NGS Panel, PDP1 Molecular Genetic Test, Pyruvate Metabolism Disorder Genetic Test
PDP1 Gene Pyruvate dehydrogenase phosphatase deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation, Bioinformatics Pipeline 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 receipt at the laboratory.. 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 mutations in the PDP1 gene that cause pyruvate dehydrogenase phosphatase deficiency. A confirmed molecular diagnosis helps guide clinical management, enables targeted dietary and therapeutic interventions, facilitates genetic counselling for affected families, and allows for informed family planning decisions.
- Test Code
- 2233
- CPT Code
- 81479
- ICD Code
- E74.89
- 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 receipt at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation, Bioinformatics Pipeline Analysis
Sample Collection
No fasting or special preparation is required. Ensure the patient or guardian has provided informed consent. A genetic counselling session to draw a detailed pedigree chart of family members affected with pyruvate dehydrogenase phosphatase deficiency is recommended prior to testing.
Method: Venipuncture
Laboratory Analysis
A trained phlebotomist will collect 3-5 mL of venous blood in an EDTA vacutainer using standard aseptic technique. Alternatively, a single drop of blood may be spotted onto an FTA card. The sample is labelled and sealed according to standard protocols.
Report Delivery
The sample is transported to the laboratory at ambient room temperature. Avoid freezing or exposing the sample to extreme heat. Results are typically available within 3 to 4 weeks. Reports are shared via the online portal, email, or WhatsApp.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify mutations in the PDP1 gene that cause pyruvate dehydrogenase phosphatase deficiency. A confirmed molecular diagnosis helps guide clinical management, enables targeted dietary and therapeutic interventions, facilitates genetic counselling for affected families, and allows for informed family planning decisions.
How to Prepare
- Collect 3-5 mL of venous blood in an EDTA (lavender top) vacutainer or spot one drop of blood on an FTA card
- Label the sample clearly with the patient's full name, date of birth, and sample collection date
- Maintain the sample at ambient room temperature during transport
- Do not freeze the sample or expose it to temperatures above 37°C
- Ship the sample to the laboratory within 48 hours of collection
- For extracted DNA samples, ensure a minimum concentration of 20 ng/µL and volume of 50 µL
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"PDP1 gene pyruvate dehydrogenase phosphatase deficiency is a rare autosomal recessive metabolic disorder that typically presents in infancy or early childhood. Children with this condition may exhibit developmental delay, seizures, lactic acidosis, and neurological impairment. Early genetic diagnosis through NGS testing allows for timely dietary interventions such as ketogenic diet, avoidance of high-carbohydrate loads, and supportive therapies that may improve neurodevelopmental outcomes. I recommend this test for any child presenting with unexplained lactic acidosis, recurrent seizures, or global developmental delay where mitochondrial disorders are suspected."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Haemolysed, clotted, or insufficient sample volume
- Samples without proper labelling or identification
- Samples collected in incorrect anticoagulant tubes
- Contaminated or degraded DNA with concentration below 10 ng/µL
- Samples older than 7 days without prior arrangement
Understanding Your Results
No pathogenic variants detected
No disease-causing mutations were identified in the PDP1 gene. This result does not completely rule out pyruvate dehydrogenase phosphatase deficiency if large deletions/duplications or mutations in other related genes are present. Clinical correlation and further testing may be warranted.
Pathogenic or Likely Pathogenic variant(s) detected (Homozygous or Compound Heterozygous)
Disease-causing variant(s) consistent with pyruvate dehydrogenase phosphatase deficiency have been identified. This confirms the molecular diagnosis. Carrier testing of parents and genetic counselling for the family are recommended.
Pathogenic or Likely Pathogenic variant detected (Heterozygous)
A single disease-causing variant was identified. The patient may be a carrier of the condition. If clinical suspicion remains high, additional testing for deletions/duplications or other metabolic disorder genes may be considered. Parental testing is recommended.
Variant of Uncertain Significance (VUS) detected
A variant of uncertain clinical significance was identified. The pathogenicity of this variant has not been definitively established. Further evaluation including familial segregation analysis, functional studies, and clinical correlation is recommended. Periodic reclassification may be advised as new data becomes available.
Consult a geneticist or metabolic disease specialist if the test detects pathogenic or likely pathogenic variants, if a VUS is identified, if clinical symptoms persist despite a negative result, or if you require guidance on management, recurrence risk, or family planning.
Limitations
- ⚠This test targets the PDP1 gene only and does not screen other genes associated with pyruvate dehydrogenase complex deficiency such as PDHA1, PDHB, DLAT, DLD, PDHX, or LIAS
- ⚠Deep intronic mutations, large structural rearrangements, and trinucleotide repeat expansions may not be fully detected by NGS alone
- ⚠The clinical significance of some identified variants may remain uncertain (VUS) requiring periodic reclassification
- ⚠A negative result does not entirely exclude other genetic or non-genetic causes of the patient's clinical presentation
- ⚠Mosaicism at low levels may not be reliably detected
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Very small risk of infection at the venipuncture site
- ●Possible identification of variants of uncertain significance which may cause anxiety
- ●Potential discovery of incidental findings unrelated to the primary indication
Interfering Factors
- ●Recent blood transfusion (within 4 weeks) may affect DNA purity and results
- ●Heavily degraded DNA samples may lead to incomplete sequencing coverage
- ●Contamination of the sample during collection or transport may impact test accuracy
- ●Haemolysed or clotted blood samples may be rejected and require recollection
Compare With Similar Tests
| Test | PDP1 Gene Pyruvate dehydrogenase phosphatase deficiency NGS Genetic Test | PDHA1 Gene NGS Test | Mitochondrial Genome Sequencing | Whole Exome Sequencing (WES) | Lactate and Pyruvate Blood Level Test |
|---|---|---|---|---|---|
| Comparison | PDP1 Gene Pyruvate dehydrogenase phosphatase deficiency NGS Genetic Test | PDHA1 is the most common gene associated with pyruvate dehydrogenase complex deficiency and is X-linked, whereas PDP1 deficiency is autosomal recessive. PDHA1 testing is often performed first when PDC deficiency is suspected. | Mitochondrial genome sequencing analyses the entire mitochondrial DNA for mutations. Some presentations resembling PDP1 deficiency may be caused by mitochondrial DNA variants, making this a useful complementary test. | WES analyses all coding regions of the genome and may identify mutations in PDP1 and other genes simultaneously. It is a broader test suitable when the clinical picture is non-specific or when targeted gene tests are negative. | Biochemical testing of blood lactate and pyruvate levels can indicate impaired pyruvate metabolism but cannot identify the specific genetic cause. Elevated lactate-to-pyruvate ratio supports the need for genetic confirmation. |
Frequently Asked Questions
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