ECEL1 Gene Arthrogryposis, distal, type 5D NGS Genetic Test
Short Name: ECEL1 DA5D NGS Test
Also known as: Distal Arthrogryposis Type 5D, DA5D, ECEL1-Related Arthrogryposis, ECEL1 Gene Disorder, Omodysplasia Type 2
ECEL1 Gene Arthrogryposis, distal, type 5D 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 Results are typically available within 3 to 4 weeks from the date of sample collection. Reports are delivered via the DNA Labs India online portal, registered email address, and WhatsApp.. 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 ECEL1 Gene Arthrogryposis, distal, type 5D NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the ECEL1 gene that cause distal arthrogryposis type 5D. This test aids in confirming a clinical diagnosis, differentiating DA5D from other forms of arthrogryposis, determining carrier status in family members, supporting genetic counseling and reproductive planning, and guiding appropriate clinical management and intervention strategies.
- Test Code
- 2366
- CPT Code
- 81479
- ICD Code
- Q68.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample collection. Reports are delivered via the DNA Labs India online portal, registered email address, and WhatsApp.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
A genetic counseling session is recommended prior to sample collection. Provide detailed clinical history of the patient and draw a pedigree chart of family members affected with or suspected of having ECEL1 Gene Arthrogryposis, distal, type 5D. No fasting is required. Inform the laboratory of any recent blood transfusions.
Method: Venipuncture / FTA Card Blood Spot
Laboratory Analysis
A peripheral blood sample (3-5 mL) will be collected via standard venipuncture into an EDTA (lavender top) tube. Alternatively, one drop of blood on an FTA card or pre-extracted DNA may be submitted. The collection procedure typically takes 5-10 minutes.
Report Delivery
Apply gentle pressure to the puncture site with a cotton ball or bandage. The sample will be transported under appropriate conditions to the laboratory. Results will be available in 3 to 4 weeks through the online portal, email, or WhatsApp. A follow-up genetic counseling session is recommended to interpret the results.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample collection. Reports are delivered via the DNA Labs India online portal, registered email address, and WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the ECEL1 Gene Arthrogryposis, distal, type 5D NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the ECEL1 gene that cause distal arthrogryposis type 5D. This test aids in confirming a clinical diagnosis, differentiating DA5D from other forms of arthrogryposis, determining carrier status in family members, supporting genetic counseling and reproductive planning, and guiding appropriate clinical management and intervention strategies.
How to Prepare
- Collect 3-5 mL peripheral blood in an EDTA (Lavender Top) tube under aseptic conditions
- Alternatively, collect one drop of blood on an FTA card following manufacturer instructions
- Pre-extracted DNA (minimum 50 ng/µL, 260/280 ratio 1.8-2.0) may also be submitted
- Label the sample clearly with patient name, date of birth, date of collection, and unique identifier
- Transport blood samples at ambient room temperature (15-25°C); do not freeze
- FTA cards should be air-dried completely before packaging
- Ensure the sample reaches the laboratory within 48 hours of collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Distal arthrogryposis type 5D caused by ECEL1 gene mutations is a condition that may be identified through prenatal or postnatal genetic testing. Families with a history of joint contractures or congenital musculoskeletal anomalies should consider genetic counseling. Early molecular diagnosis enables informed family planning and timely multidisciplinary management for the affected child."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed, clotted, or improperly labeled samples
- Samples collected in incorrect anticoagulant (e.g., heparin tubes)
- Insufficient sample volume (less than 2 mL blood)
- Samples with visible contamination
- Samples received without proper requisition form or clinical history
- FTA cards not fully air-dried before packaging
Understanding Your Results
Pathogenic Variant Detected
One or more pathogenic variants were identified in the ECEL1 gene. In a homozygous or compound heterozygous state, this is consistent with a diagnosis of distal arthrogryposis type 5D. Clinical correlation and genetic counseling are recommended.
Likely Pathogenic Variant Detected
One or more likely pathogenic variants were identified. These variants have strong evidence suggesting disease causation but may require additional studies or family segregation analysis for definitive classification. Genetic counseling is recommended.
Variant of Uncertain Significance (VUS)
A variant was identified that currently lacks sufficient evidence to classify it as pathogenic or benign. This result alone cannot confirm or rule out a diagnosis. Clinical correlation, family studies, and periodic reanalysis as new data become available are advised.
No Pathogenic Variant Detected
No pathogenic or likely pathogenic variants were identified in the ECEL1 gene. This result does not completely exclude a genetic etiology, as mutations in other genes may be responsible for the patient's condition. Clinical correlation and further evaluation may be warranted.
Carrier Identified
A single heterozygous pathogenic or likely pathogenic variant was detected. The individual is a carrier of ECEL1-related distal arthrogryposis type 5D and is typically unaffected. Carrier testing of the partner and genetic counseling regarding reproductive risk is recommended.
Consult a clinical geneticist or your referring healthcare provider if the test reveals a pathogenic or likely pathogenic variant, if a Variant of Uncertain Significance (VUS) is detected, if you are planning a pregnancy and are a known carrier of an ECEL1 mutation, or if your child has symptoms such as stiff joints, weak muscles, limb contractures, or difficulty with movement. Ongoing follow-up with a multidisciplinary team including orthopedic specialists, physiotherapists, and genetic counselors is recommended for confirmed cases.
Limitations
- ⚠This test specifically targets the ECEL1 gene and may not detect mutations in other genes associated with different forms of arthrogryposis
- ⚠Deep intronic mutations, large copy number variations, and complex structural rearrangements may not be fully detected by standard NGS panel sequencing
- ⚠Variants of Uncertain Significance (VUS) may be identified and may require further studies or family segregation analysis for reclassification
- ⚠Results should always be interpreted in conjunction with clinical findings, family history, and other diagnostic investigations
- ⚠A negative result does not completely exclude a genetic basis for the patient's condition as other genes may be involved
Risks & Considerations
- ●Minor bruising or discomfort at the blood collection site
- ●Slight risk of lightheadedness during or after blood draw
- ●Extremely rare risk of infection at the venipuncture site
- ●Psychological impact of receiving genetic test results — genetic counseling is recommended
Interfering Factors
- ●Degraded or insufficient DNA quality in the submitted sample
- ●Sample contamination during collection, transport, or processing
- ●Recent blood transfusion within the past 4-6 weeks may affect DNA analysis
- ●Hemolyzed or clotted blood samples may reduce DNA yield
- ●Improper storage or transport conditions affecting sample integrity
Compare With Similar Tests
| Test | ECEL1 Gene Arthrogryposis, distal, type 5D NGS Genetic Test | Sanger Sequencing of ECEL1 Gene | Whole Exome Sequencing (WES) | Arthrogryposis Multiplex Gene Panel | Chromosomal Microarray Analysis (CMA) |
|---|---|---|---|---|---|
| Comparison | ECEL1 Gene Arthrogryposis, distal, type 5D NGS Genetic Test | Sanger sequencing targets known specific variants and is more cost-effective for single variant confirmation, but lacks the comprehensive genome-wide coverage of NGS. NGS can detect novel variants across the entire gene simultaneously. | WES analyzes all protein-coding genes in the genome and is useful when the specific gene is unknown. The ECEL1-specific NGS test is more targeted and cost-effective when clinical suspicion for DA5D is high. | A broader gene panel covers multiple genes associated with various types of arthrogryposis. The ECEL1-specific test is ideal when clinical features strongly suggest DA5D or for confirmatory and carrier testing. | CMA detects large chromosomal deletions or duplications but may miss single nucleotide variants in ECEL1. NGS provides superior resolution for point mutations and small indels. |
Frequently Asked Questions
What is ECEL1 Gene Arthrogryposis, distal, type 5D?
What causes distal arthrogryposis type 5D?
What are the symptoms of ECEL1-related distal arthrogryposis?
How is the ECEL1 Gene NGS Genetic Test performed?
What sample is required for this genetic test?
How long does it take to receive the test results?
What is the cost of the ECEL1 Gene Arthrogryposis NGS Genetic Test?
Is this test available across India?
Is genetic counseling required before taking this test?
Can this test be used for prenatal diagnosis or carrier testing?
What does it mean if the test detects a Variant of Uncertain Significance (VUS)?
Is there a cure for distal arthrogryposis type 5D?
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