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ECHS1 Gene Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency NGS Genetic Test

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ECHS1 Gene Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency NGS Genetic Test

Short Name: ECHS1 Gene NGS Test

Also known as: ECHS1 gene sequencing, Mitochondrial enoyl-CoA hydratase deficiency genetic test, Short-chain enoyl-CoA hydratase 1 gene mutation analysis

ECHS1 Gene Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results 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 detect pathogenic variants in the ECHS1 gene that cause mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, supporting diagnosis, family risk assessment, management planning, and genetic counselling.

Test Code
4336
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks after sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

A genetic counselling session to draw a pedigree chart of family members affected with ECHS1 gene mitochondrial short-chain enoyl-CoA hydratase 1 deficiency is recommended. No fasting is required.

Method: Peripheral blood draw or FTA card blood spot

Step 2

Laboratory Analysis

A peripheral blood sample is collected in an EDTA vacutainer, or a dried blood spot is placed on an FTA card. Extracted DNA may also be provided if already available.

Step 3

Report Delivery

No special precautions are needed. If an FTA card is used, ensure the card is dry and properly packed before transport.

Timeline: 3 to 4 weeks after sample receipt.

Patient Instructions

1
Before the Test:No fasting is required. A genetic counselling session to review the family history and draw a pedigree chart is recommended.
2
During the Test:A sample of blood, dried blood spot, or extracted DNA is submitted to the laboratory. DNA extraction, library preparation, NGS, and bioinformatic analysis are then performed.
3
After the Test:The report is shared after 3 to 4 weeks. Discuss the results with your referring physician and a clinical geneticist to understand the implications.

About This Test

Who Should Get This Test

To detect pathogenic variants in the ECHS1 gene that cause mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, supporting diagnosis, family risk assessment, management planning, and genetic counselling.

How to Prepare

  • Bring a valid clinician referral and clinical history.
  • Provide informed consent for genetic testing.
  • Label the sample with full name, date of birth, and sample collection date.
  • For FTA cards, allow the blood spot to dry completely before sealing.
  • Call DNA Labs India for free home sample collection if available in your city.

Doctor's Notes

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

"Genetic counselling and pedigree analysis are important before and after ECHS1 gene testing to explain inheritance, recurrence risks, and family implications."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required by laboratory protocol
ContainerEDTA vacutainer or FTA card
Collection MethodPeripheral blood draw or FTA card blood spot

Sample Stability

Whole blood in EDTA: stable for 24–48 hours at 2–8°C
Extracted DNA: stable at -20°C
FTA card blood spot: stable at ambient temperature for several weeks
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample
  • Incorrectly labeled sample
  • Incomplete clinical history or missing consent
  • Wet, contaminated, or improperly stored FTA card

Understanding Your Results

This test reports variants in the ECHS1 gene and classifies them according to ACMG/AMP guidelines. A negative result reduces but does not completely exclude the possibility of ECHS1 deficiency. All results should be interpreted in clinical context.
📊

Confirms the molecular diagnosis of ECHS1 deficiency and supports targeted management, family testing, and genetic counselling.

Result type: Pathogenic variant detected

📊

Highly suggests a diagnosis; additional clinical, biochemical, or segregation evidence may help confirm.

Result type: Likely pathogenic variant detected

📊

Insufficient evidence to determine whether the variant is disease-causing; further family studies and functional analysis may be needed.

Result type: Variant of uncertain significance (VUS)

📊

No reportable pathogenic or likely pathogenic variant was identified in the ECHS1 gene; this does not exclude all mitochondrial or metabolic disorders.

Result type: No pathogenic variant detected

⚠️ When to Consult a Doctor:

If you or your child has unexplained developmental delay, seizures, hypotonia, movement disorder, or metabolic findings, and a mitochondrial disorder is suspected, consult a clinical geneticist, pediatric neurologist, or metabolic specialist for evaluation and testing.

Limitations

  • ⚠This NGS assay focuses on the ECHS1 coding region and splice sites; it may not detect all regulatory, deep intronic, or structural variants.
  • ⚠Negative or inconclusive results do not completely exclude ECHS1 deficiency or other mitochondrial disorders.
  • ⚠Variant classification may change over time as new evidence emerges.
  • ⚠Genetic counseling is strongly recommended to interpret results in the family context.

Risks & Considerations

  • ●No major risks associated with blood collection
  • ●Minor bruising or discomfort at the venepuncture site
  • ●FTA card blood spot collection has minimal discomfort

Interfering Factors

  • ●Poor quality or insufficient DNA
  • ●Contamination of blood or FTA card sample
  • ●Rare variants in deep intronic regions or promoter regions not covered by NGS
  • ●Large deletions or duplications may not be detected by sequencing alone
  • ●Maternal cell contamination in prenatal or infant samples

Compare With Similar Tests

TestECHS1 Gene Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency NGS Genetic Test
ComparisonECHS1 Gene Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency NGS Genetic Test

Frequently Asked Questions

What is ECHS1 gene mitochondrial short-chain enoyl-CoA hydratase 1 deficiency?
It is a rare genetic disorder caused by mutations in the ECHS1 gene. The gene provides instructions for an enzyme involved in fatty acid breakdown and energy production. Deficiency can cause neurological and metabolic symptoms.
What symptoms may indicate the need for this test?
Common symptoms include developmental delays, seizures, muscle weakness, movement disorders, feeding difficulties, respiratory problems, and failure to thrive. These features may suggest a mitochondrial disorder.
What is the cost of the ECHS1 NGS genetic test in India?
At DNA Labs India, the special discounted price is Rs 20000. The price may vary in other laboratories depending on the test panel and technology used.
What sample is required for this test?
The test can be performed on blood, extracted DNA, or one drop of blood on an FTA card. The sample type is noted on the test requisition.
Do I need to fast before the test?
No, fasting is not required for this NGS genetic test.
How long will it take to get the report?
Reports are generally available in 3 to 4 weeks after the sample reaches the laboratory.
What does a positive or pathogenic result mean?
A pathogenic or likely pathogenic variant in ECHS1 supports the diagnosis of ECHS1 deficiency. This result should be discussed with a geneticist for medical and family planning guidance.
What is a variant of uncertain significance or VUS?
A VUS means the genetic change has been found but its effect on health is not yet clear. Additional family testing, clinical correlation, or further studies may be needed.
Can a negative result completely rule out ECHS1 deficiency?
A negative result reduces the likelihood of ECHS1 deficiency but does not completely rule it out. Some variants may be located in regions not covered by this test, or the disorder may be caused by another gene.
Is prior genetic counselling necessary?
Yes, genetic counselling is recommended before testing to draw a pedigree chart, discuss recurrence risks, and review the implications of the test result for the patient and family.
Can this test be used for carrier testing in family members?
Yes, once a pathogenic variant has been identified in an affected person, targeted testing can be offered to at-risk family members for carrier detection. Genetic counselling is essential.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in many cities across India. Please confirm availability for your location.
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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