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ACP5 Gene Spondyloenchondrodysplasia with immune dysregulation NGS Genetic Test

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ACP5 Gene Spondyloenchondrodysplasia with immune dysregulation NGS Genetic Test

Short Name: ACP5 Gene SPENCD NGS Test

Also known as: Spondyloenchondrodysplasia with immune dysregulation, SPENCD, ACP5-related disorder

ACP5 Gene Spondyloenchondrodysplasia with immune dysregulation NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of this test is to identify pathogenic mutations in the ACP5 gene to confirm the diagnosis of Spondyloenchondrodysplasia with immune dysregulation, enabling appropriate medical management and genetic counseling.

Test Code
5133
Price
₹20,000
Sample Type
Blood
Result Time
3 to 4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required. Provide clinical history and family pedigree information.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample is drawn via venipuncture by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Provide detailed clinical history and family pedigree during genetic counseling.
2
During the Test:Blood sample collection and processing for NGS analysis.
3
After the Test:Receive report via online portal, email, or WhatsApp. Discuss results with a healthcare provider.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic mutations in the ACP5 gene to confirm the diagnosis of Spondyloenchondrodysplasia with immune dysregulation, enabling appropriate medical management and genetic counseling.

How to Prepare

  • Ensure sample is collected in an EDTA tube
  • Label sample correctly with patient details
  • Transport sample at room temperature within 48 hours

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"This test is crucial for diagnosing rare genetic disorders affecting bone and immune systems, aiding in personalized management and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Sample Volume5 mL
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 48 hours at room temperature
Long-term storage at -20°C if delayed
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Incorrect sample type or container

Understanding Your Results

Results indicate the presence or absence of mutations in the ACP5 gene, which are associated with Spondyloenchondrodysplasia with immune dysregulation.
Positive Result: Pathogenic variant detected, confirming diagnosis. Consult a geneticist for management.
Negative Result: No pathogenic variants detected. Clinical correlation needed; consider other diagnoses.
Variant of Uncertain Significance (VUS): Further testing or family studies may be required for clarification.
⚠️ When to Consult a Doctor:

Consult a geneticist, immunologist, or rheumatologist if symptoms persist, if there is a family history of genetic disorders, or upon receiving positive or uncertain test results.

Limitations

  • ⚠May not detect all mutation types, such as large deletions or intronic variants
  • ⚠Results require clinical correlation
  • ⚠Cannot predict disease severity or progression

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●No significant risks associated with genetic testing itself

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Incorrect sample handling

Compare With Similar Tests

TestACP5 Gene Spondyloenchondrodysplasia with immune dysregulation NGS Genetic TestWhole Exome SequencingSkeletal Dysplasia Gene PanelImmunodeficiency Gene Panel
ComparisonACP5 Gene Spondyloenchondrodysplasia with immune dysregulation NGS Genetic Test

Frequently Asked Questions

What is the ACP5 Gene Spondyloenchondrodysplasia with immune dysregulation NGS Genetic Test?
It is a genetic test that uses next-generation sequencing to detect mutations in the ACP5 gene, which causes a rare disorder affecting bones and the immune system.
Who should consider this test?
Individuals with symptoms like abnormal bone development, frequent infections, autoimmune disorders, or a family history of similar conditions.
How is the test performed?
A blood or saliva sample is collected and analyzed using NGS technology to identify mutations in the ACP5 gene.
What is the cost of the test?
The test costs INR 20000, with home sample collection available across India.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the results mean?
Results indicate if pathogenic mutations are present in the ACP5 gene, confirming diagnosis. A genetic counselor can help interpret findings.
Is the test accurate?
Yes, NGS technology provides high accuracy and sensitivity for detecting mutations in the ACP5 gene.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, such as bruising. Genetic testing itself poses no physical risks.
Can this test be done at home?
Yes, DNA Labs India offers free home sample collection for online bookings in many cities across India.
What should I do after receiving the results?
Consult a healthcare provider, such as a geneticist or immunologist, to discuss results and plan management.
Is genetic counseling recommended?
Yes, genetic counseling is advised before and after testing to understand implications and family risks.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

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.

LIMS Integration

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.

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