ACP2 Gene Lysosomal acid phosphatase deficiency NGS Genetic Test
Short Name: ACP2 Gene NGS Test
Also known as: ACP2 Gene Sequencing Test, Lysosomal Acid Phosphatase Deficiency Genetic Test, LAPD NGS Test, ACP2 Mutation Analysis Test, Lysosomal Storage Disorder Genetic Panel
ACP2 Gene Lysosomal acid phosphatase deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation (if required), Bioinformatics Pipeline Analysis on Blood samples. Results in Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Urgent cases may be prioritized upon request.. 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 ACP2 Gene Lysosomal Acid Phosphatase Deficiency NGS Genetic Test is to detect mutations in the ACP2 gene that cause Lysosomal Acid Phosphatase Deficiency (LAPD). This test is used to confirm a clinical diagnosis, identify carriers within families, support genetic counseling for family planning, and differentiate LAPD from other lysosomal storage disorders or metabolic conditions with overlapping clinical features. The test result guides clinical management decisions and helps families understand the inheritance pattern and recurrence risk for future pregnancies.
- Test Code
- 2143
- CPT Code
- 81405
- ICD Code
- E77.8
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Urgent cases may be prioritized upon request.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation (if required), Bioinformatics Pipeline Analysis
Sample Collection
No special preparation such as fasting is required. A pre-test genetic counseling session is strongly recommended. Bring a detailed clinical history, any previous laboratory reports, and a pedigree chart of affected family members if available.
Method: Venipuncture / Buccal Swab
Laboratory Analysis
A trained phlebotomist will collect approximately 3-5 mL of blood via venipuncture into an EDTA (lavender-top) vacutainer tube. Alternatively, a buccal (cheek) swab may be collected. The procedure typically takes less than 10 minutes. Free home sample collection is available in select cities across India.
Report Delivery
After collection, the sample is labeled, stored at ambient room temperature, and transported to the DNA Labs India laboratory under controlled conditions. Mild bruising at the venipuncture site may occur and typically resolves within 1-2 days. Results will be available in 3 to 4 weeks and delivered 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. Urgent cases may be prioritized upon request.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the ACP2 Gene Lysosomal Acid Phosphatase Deficiency NGS Genetic Test is to detect mutations in the ACP2 gene that cause Lysosomal Acid Phosphatase Deficiency (LAPD). This test is used to confirm a clinical diagnosis, identify carriers within families, support genetic counseling for family planning, and differentiate LAPD from other lysosomal storage disorders or metabolic conditions with overlapping clinical features. The test result guides clinical management decisions and helps families understand the inheritance pattern and recurrence risk for future pregnancies.
How to Prepare
- No fasting is required prior to sample collection
- Ensure the patient or guardian has provided informed consent for genetic testing
- A pre-test genetic counseling session is recommended
- Avoid blood collection within 30 days of a blood transfusion
- Provide accurate patient demographics and family history at the time of booking
- For buccal swab collection, avoid eating, drinking, or chewing gum for at least 30 minutes before sample collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Lysosomal Acid Phosphatase Deficiency is an extremely rare autosomal recessive disorder that can present with progressive neurological deterioration, hepatosplenomegaly, and hematological abnormalities in infancy or early childhood. Early genetic diagnosis through NGS-based testing of the ACP2 gene allows for accurate identification of causative mutations, timely genetic counseling for families, and informed reproductive planning. I recommend this test for any child presenting with unexplained developmental regression, recurrent vomiting, hypotonia, or organomegaly, especially when there is a family history suggestive of a lysosomal storage disorder. A pre-test genetic counseling session is essential to help families understand the implications of the results and to construct an accurate family pedigree."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received without proper labeling or patient identification
- Clotted or hemolyzed blood sample
- Sample collected in incorrect container (non-EDTA tube)
- Sample received after exceeding the maximum stability period
- Insufficient sample volume
- Missing or unsigned consent form for genetic testing
Understanding Your Results
Consistent with a diagnosis of Lysosomal Acid Phosphatase Deficiency. The patient is likely affected. Genetic counseling and clinical correlation are strongly recommended.
Result type: Pathogenic or Likely Pathogenic Variants Detected (Biallelic)
The individual is a carrier of ACP2 gene mutation. Carrier testing of parents and genetic counseling is recommended. The individual is typically unaffected but has a 50% chance of passing the variant to offspring.
Result type: Pathogenic or Likely Pathogenic Variant Detected (Monoallelic / Carrier)
A variant of unknown clinical significance was identified. Further evaluation, family segregation studies, and clinical correlation are recommended before drawing diagnostic conclusions.
Result type: Variant of Uncertain Significance (VUS) Detected
No disease-causing mutations were identified in the ACP2 gene. This result reduces but does not eliminate the possibility of ACP2-related disease. Alternative diagnoses should be considered if clinical suspicion remains high.
Result type: No Pathogenic Variants Detected
Consult a clinical geneticist or your referring physician if: (1) Your test result identifies pathogenic or likely pathogenic variants and you need guidance on diagnosis, treatment options, and prognosis; (2) A Variant of Uncertain Significance (VUS) is detected and you need further evaluation; (3) You are found to be a carrier and wish to discuss family planning implications; (4) Your test is negative but clinical symptoms persist and alternative diagnostic pathways need exploration; (5) You or your child is experiencing new or worsening symptoms such as progressive muscle weakness, breathing difficulty, feeding difficulties, or unexplained organ enlargement.
Limitations
- ⚠This test analyzes the coding regions and flanking intronic sequences of the ACP2 gene only; it does not screen the entire genome
- ⚠The test may not detect large deletions, duplications, or complex rearrangements unless specifically designed to do so
- ⚠Variants of Uncertain Significance (VUS) may be identified and cannot be used for definitive clinical decision-making without further evidence
- ⚠Results must be interpreted in the context of the patient's clinical presentation, family history, and other laboratory findings
- ⚠This test does not assess enzyme activity levels; a separate enzyme assay may be needed for functional confirmation
- ⚠Genotype-phenotype correlations for LAPD remain limited due to the rarity of this condition
Risks & Considerations
- ●Mild pain, bruising, or swelling at the blood collection site (venipuncture), which typically resolves within 1-2 days
- ●Very small risk of infection at the puncture site
- ●Psychological or emotional impact of receiving a genetic diagnosis, especially in pediatric cases
- ●Risk of identifying Variants of Uncertain Significance (VUS), which may cause anxiety without providing definitive answers
Interfering Factors
- ●Recent blood transfusion (within 30 days) may affect DNA analysis results
- ●Degraded or insufficient DNA sample quality can impact sequencing accuracy
- ●Mosaicism at low levels may not be reliably detected
- ●Certain large structural rearrangements or deep intronic variants may not be fully captured by standard NGS panels
Compare With Similar Tests
| Test | ACP2 Gene Lysosomal acid phosphatase deficiency NGS Genetic Test | ACP2 Enzyme Activity Assay | Sanger Sequencing of ACP2 Gene | Whole Exome Sequencing (WES) | Metabolic Screening Panel (Biochemical) |
|---|---|---|---|---|---|
| Comparison | ACP2 Gene Lysosomal acid phosphatase deficiency NGS Genetic Test |
Frequently Asked Questions
What is the ACP2 Gene Lysosomal Acid Phosphatase Deficiency NGS Genetic Test?
Who should consider getting this genetic test?
Is fasting required before the ACP2 Gene NGS Genetic Test?
What sample type is needed for this test?
How long does it take to receive the results?
What is the cost of the ACP2 Gene NGS Genetic Test?
Is home sample collection available for this test?
What does it mean if pathogenic variants are detected in the ACP2 gene?
Can this test be performed on children and infants?
Is this genetic test covered by insurance or government health schemes?
What is Lysosomal Acid Phosphatase Deficiency and how is it inherited?
What should I do after receiving my genetic test results?
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