PPM1K Gene Maple syrup urine disease, mild variant NGS Genetic Test
Short Name: PPM1K MSUD NGS Test
Also known as: MSUD Mild Variant Genetic Test, PPM1K Gene Sequencing Test, Branched-Chain Ketoacid Dehydrogenase Kinase Deficiency Test, PPM1K Mutation Analysis, Maple Syrup Urine Disease Type Mild NGS Test
PPM1K Gene Maple syrup urine disease, mild variant NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Bioinformatic Variant Analysis, ACMG Variant Classification on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 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 primary purpose of the PPM1K Gene Maple Syrup Urine Disease Mild Variant NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the PPM1K gene that cause a mild form of Maple Syrup Urine Disease. This test serves to confirm a clinical or biochemical diagnosis of mild MSUD, enable carrier detection in family members, guide dietary and medical management strategies, facilitate informed family planning decisions through carrier status determination, and support genetic counselling for affected families. The test is particularly valuable when standard metabolic screening results are equivocal or when a milder clinical phenotype does not align with classical MSUD presentations.
- Test Code
- 2148
- CPT Code
- 81479
- ICD Code
- E71.0
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks from the date of sample receipt at the laboratory
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Bioinformatic Variant Analysis, ACMG Variant Classification
Sample Collection
No fasting is required. Ensure adequate hydration. Bring a valid government-issued photo ID and the doctor's prescription or referral. For pediatric patients, a parent or legal guardian must be present. Inform the collection team of any recent blood transfusions, anticoagulant therapy, or current medications.
Method: Venipuncture
Laboratory Analysis
A trained phlebotomist will collect 3 to 5 mL of venous blood using a sterile EDTA (lavender top) vacutainer tube through standard venipuncture. For infants, a heel prick may be performed and blood collected on an FTA card. The procedure typically takes less than 5 minutes and involves minimal discomfort.
Report Delivery
Apply gentle pressure to the puncture site with sterile cotton for 3 to 5 minutes. Avoid heavy lifting or strenuous activity with the punctured arm for the rest of the day. Mild bruising at the site is normal and resolves within a few days. The sample will be transported under controlled conditions to our molecular genetics laboratory for processing.
Timeline: 3 to 4 Weeks from the date of sample receipt at the laboratory
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the PPM1K Gene Maple Syrup Urine Disease Mild Variant NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the PPM1K gene that cause a mild form of Maple Syrup Urine Disease. This test serves to confirm a clinical or biochemical diagnosis of mild MSUD, enable carrier detection in family members, guide dietary and medical management strategies, facilitate informed family planning decisions through carrier status determination, and support genetic counselling for affected families. The test is particularly valuable when standard metabolic screening results are equivocal or when a milder clinical phenotype does not align with classical MSUD presentations.
How to Prepare
- No fasting required prior to sample collection
- Carry a valid photo ID and the referring physician's prescription
- For infants, bring any available newborn screening or metabolic test reports
- A genetic counselling session will be conducted to document the family pedigree and clinical history prior to or at the time of sample collection
- Home sample collection is available at no additional charge across India
- Blood collected in EDTA (lavender top) tube should be stored at 2 to 8°C if not processed immediately
- FTA card samples should be air-dried completely before packaging
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"The mild variant of Maple Syrup Urine Disease associated with PPM1K gene mutations can be clinically subtle and may evade detection during standard newborn screening. NGS-based genetic testing offers a definitive molecular diagnosis, enabling early dietary intervention and metabolic management that can prevent life-threatening neurological complications. I strongly recommend this test for any infant or child presenting with unexplained episodic lethargy, poor feeding, or developmental regression, particularly when there is a family history of metabolic disease."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received in a non-EDTA anticoagulant tube
- Hemolyzed, clotted, or insufficient sample volume
- Sample without proper labeling or identification
- Sample received after exceeding the stability window
- Missing requisition form, clinical history, or signed consent
Understanding Your Results
No pathogenic or likely pathogenic variants were identified in the PPM1K gene. This result does not exclude MSUD caused by mutations in other associated genes (BCKDHA, BCKDHB, DBT). Correlation with biochemical testing is recommended.
One or more pathogenic or likely pathogenic variants were identified in the PPM1K gene. A homozygous or compound heterozygous state is consistent with a diagnosis of PPM1K-related mild variant MSUD. A heterozygous carrier state indicates the individual carries one mutant allele and is typically unaffected but can pass the variant to offspring. Dietary management and metabolic monitoring should be initiated under specialist supervision.
A variant was detected whose clinical significance is currently unknown. Further evaluation including segregation analysis in family members, additional functional studies, and correlation with biochemical and clinical findings is recommended. The variant should be reclassified as new evidence emerges.
Consult a metabolic disease specialist or clinical geneticist if the test reveals a pathogenic or likely pathogenic variant in the PPM1K gene. Immediate medical attention is warranted if the patient shows signs of metabolic crisis such as poor feeding, lethargy, vomiting, unusual urine odor, or neurological changes. Carrier individuals should seek genetic counselling regarding family planning implications. All positive and VUS results should be discussed with a qualified genetic counsellor for appropriate clinical management and family screening.
Limitations
- ⚠This test is limited to sequence-level variant detection within the PPM1K gene and does not cover large structural rearrangements, copy number variations, or deep intronic mutations beyond standard NGS capture regions
- ⚠Variants of Uncertain Significance (VUS) may be identified, and their clinical relevance may not be fully established at the time of reporting
- ⚠A negative result does not completely exclude MSUD caused by mutations in other genes such as BCKDHA, BCKDHB, or DBT
- ⚠Mosaicism at low allele frequencies below the detection threshold may not be identified
- ⚠Results should always be interpreted in conjunction with clinical findings, biochemical markers (plasma amino acids, urine organic acids), and family history
- ⚠This test is not a substitute for comprehensive newborn screening or biochemical metabolic testing
Risks & Considerations
- ●Minor bruising or discomfort at the blood collection site
- ●Very rare risk of infection at the venipuncture site
- ●Fainting or lightheadedness during or after blood draw (vasovagal response)
- ●Possible identification of Variants of Uncertain Significance (VUS) which may cause anxiety pending further clarification
- ●Potential psychological impact of carrier status or positive diagnosis; genetic counselling is provided to mitigate this
Interfering Factors
- ●Degraded or insufficient DNA quality due to improper sample storage or transport
- ●Recent blood transfusion within the past 4 weeks may introduce donor DNA and affect results
- ●Sample contamination during collection or processing
- ●Presence of hemoglobin variants or other genetic conditions that may complicate sequencing analysis
- ●Use of certain anticoagulants other than EDTA may interfere with DNA extraction
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Frequently Asked Questions
What is PPM1K Gene Maple Syrup Urine Disease?
What are the symptoms of the mild variant of MSUD caused by PPM1K mutations?
How is PPM1K Gene Maple Syrup Urine Disease diagnosed?
What is NGS Genetic Testing and how does it differ from other genetic tests?
What sample is required for the PPM1K Gene NGS Genetic Test?
How long does it take to receive the PPM1K Gene NGS Genetic Test results?
What is the cost of the PPM1K Gene MSUD NGS Genetic Test in India?
Is home sample collection available for this test across India?
Who should consider getting tested for PPM1K gene mutations?
Can the PPM1K Gene NGS Genetic Test be performed on a newborn?
Is genetic counselling recommended before and after the PPM1K Gene NGS Genetic Test?
What should I do if the PPM1K Gene NGS Genetic Test result is positive?
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