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ACADS Gene Acyl-CoA short-chain dehydrogenase deficiency NGS Genetic Test

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ACADS Gene Acyl-CoA short-chain dehydrogenase deficiency NGS Genetic Test

Short Name: ACADS Gene NGS Test

Also known as: Short-chain acyl-CoA dehydrogenase deficiency, SCADD, ACADS deficiency

ACADS Gene Acyl-CoA short-chain dehydrogenase deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in Results available in 3 to 4 weeks after sample receipt.. 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

To diagnose Acyl-CoA Short-Chain Dehydrogenase Deficiency by identifying pathogenic variants in the ACADS gene, enabling early intervention and management of this metabolic disorder.

Test Code
1863
Price
₹20,000
Sample Type
Blood
Result Time
Results available in 3 to 4 weeks after sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Provide informed consent and complete genetic counseling session. Share detailed clinical and family history.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample drawn via standard venipuncture by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store sample at ambient room temperature as instructed.

Timeline: Results available in 3 to 4 weeks after sample receipt.

Patient Instructions

1
Before the Test:Genetic counseling session to understand implications and draw pedigree chart. No fasting required; sample collection at ambient room temperature.
2
During the Test:Blood sample collected in EDTA tube and sent to the laboratory for NGS analysis.
3
After the Test:Monitor the puncture site for any discomfort. Await results in 3-4 weeks; discuss with healthcare provider upon receipt.

About This Test

Who Should Get This Test

To diagnose Acyl-CoA Short-Chain Dehydrogenase Deficiency by identifying pathogenic variants in the ACADS gene, enabling early intervention and management of this metabolic disorder.

How to Prepare

  • Avoid strenuous activity before sample collection
  • Ensure proper labeling of the sample tube
  • Use sterile equipment to prevent contamination

Doctor's Notes

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

"Genetic testing for ACADS deficiency is crucial for early diagnosis and management, especially in families with a history of metabolic disorders. Consult a genetic counselor for personalized advice."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Sample Volume5-10 mL
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood samples stable at 2-8°C for up to 48 hours
Avoid freezing unless specified
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or clotted samples
  • Incorrect sample type or container

Understanding Your Results

Results from the ACADS Gene NGS Test should be interpreted by a qualified geneticist or metabolic specialist. Positive findings indicate a genetic predisposition to ACADS deficiency, while negative results do not completely rule out other metabolic conditions.
Positive result: Pathogenic variants detected, confirm diagnosis and initiate treatment
Negative result: No pathogenic variants found; consider other etiologies if symptoms persist
Variant of uncertain significance (VUS): Further testing and family studies recommended
Carrier status: One pathogenic variant identified; genetic counseling advised for family planning
⚠️ When to Consult a Doctor:

Consult a doctor immediately if symptoms such as severe muscle weakness, seizures, or metabolic crises occur. Follow up with a genetic counselor for test results and management planning.

Limitations

  • ⚠Does not detect large genomic rearrangements beyond NGS capability
  • ⚠May not identify variants of uncertain significance (VUS) definitively
  • ⚠Results require correlation with clinical findings and family history

Risks & Considerations

  • ●Minimal risk from blood draw: bruising, infection, or dizziness
  • ●Potential psychological impact of genetic results
  • ●Risk of insurance or discrimination issues based on genetic information

Interfering Factors

  • ●DNA quality affected by improper sample storage
  • ●Hemolyzed or contaminated blood samples
  • ●Recent blood transfusions may interfere with results

Compare With Similar Tests

TestACADS Gene Acyl-CoA short-chain dehydrogenase deficiency NGS Genetic TestMedium-chain acyl-CoA dehydrogenase (MCAD) deficiency testVery-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency testOrganic acid analysisNewborn screening panel
ComparisonACADS Gene Acyl-CoA short-chain dehydrogenase deficiency NGS Genetic Test

Frequently Asked Questions

What is ACADS Gene Acyl-CoA Short-Chain Dehydrogenase Deficiency?
It is a rare genetic disorder where the body cannot properly break down short-chain fatty acids due to mutations in the ACADS gene, leading to energy production issues and potential metabolic crises.
Who should consider this genetic test?
Individuals with symptoms like developmental delays, muscle weakness, seizures, or a family history of metabolic disorders. Newborns with positive screening results may also need confirmation testing.
How is the test performed?
A blood sample is collected and analyzed using Next-Generation Sequencing to detect mutations in the ACADS gene. It is a non-invasive procedure with minimal risks.
What does a positive result mean?
A positive result indicates the presence of pathogenic variants in the ACADS gene, confirming a diagnosis of ACADS deficiency. This allows for early intervention and management.
Are there any dietary restrictions before the test?
No, fasting is not required. The sample is collected at ambient room temperature, and no special preparation is needed beyond genetic counseling.
How accurate is the NGS genetic test?
NGS technology provides high accuracy (>99%) for detecting point mutations and small indels in the ACADS gene, making it a reliable diagnostic tool.
What is the cost of the test?
The test costs INR 20000, which includes sample collection, analysis, and report delivery. Free home collection is available across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Is genetic counseling provided?
Yes, a genetic counseling session is recommended before the test to draw a pedigree chart and discuss implications. Post-test counseling is also available.
Can this test be done during pregnancy?
Yes, it can be performed on expectant mothers, especially if there is a family history. Consult with an obstetrician for appropriate timing.
What are the treatment options if diagnosed?
Treatment focuses on dietary management, avoiding fasting, and emergency care during metabolic stress. Early diagnosis helps in preventing complications.
Is the test covered by insurance in India?
Coverage varies by insurance provider and policy. It is advisable to check with your insurer or explore government schemes like PMJAY for potential coverage.
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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