ARSE Gene Chondrodysplasia punctata, X-linked recessive NGS Genetic Test
Short Name: ARSE Gene CDP Test
Also known as: Chondrodysplasia punctata, X-linked recessive, CDPX1
ARSE Gene Chondrodysplasia punctata, X-linked recessive 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 sample receipt.. 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 this test is to diagnose Chondrodysplasia punctata caused by ARSE gene mutations, confirm the genetic basis of symptoms, identify carriers for X-linked recessive inheritance, and support prenatal diagnosis in at-risk families.
- Test Code
- 2382
- 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 sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
Clinical history of the patient and a genetic counseling session to draw a pedigree chart of affected family members are recommended before testing.
Method: Venipuncture or home collection
Laboratory Analysis
Sample collection involves a blood draw via venipuncture or saliva sample, performed by a trained phlebotomist.
Report Delivery
Apply pressure to the puncture site for blood draw; for saliva, follow provided instructions. Store samples as per guidelines.
Timeline: Results are typically available within 3 to 4 weeks from sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose Chondrodysplasia punctata caused by ARSE gene mutations, confirm the genetic basis of symptoms, identify carriers for X-linked recessive inheritance, and support prenatal diagnosis in at-risk families.
How to Prepare
- Ensure proper patient identification
- Use sterile collection tubes
- Label samples accurately
- Transport to lab at ambient temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"As an OB-GYN, I recommend this test for families with a history of genetic disorders affecting bone development, especially for carrier testing and prenatal diagnosis in X-linked conditions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or lipemic blood samples
- Contaminated samples
- Incorrect sample type or insufficient volume
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Chondrodysplasia punctata; genetic counseling recommended.
No pathogenic variant detected
May indicate absence of ARSE gene mutation, but does not rule out other genetic causes; further testing may be needed.
Variant of uncertain significance
Additional family studies or functional analysis may be required for clarity.
Consult a genetic counselor or medical geneticist if test results are positive, if symptoms persist despite negative results, or for carrier testing and family planning advice.
Limitations
- ⚠May not detect all types of genetic variants, such as large deletions or duplications
- ⚠Results require interpretation by a genetic counselor or medical geneticist
- ⚠Testing may not be available for all populations or rare mutations
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or discomfort
- ●Psychological impact of genetic diagnosis
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Insufficient sample volume
Compare With Similar Tests
| Test | ARSE Gene Chondrodysplasia punctata, X-linked recessive NGS Genetic Test | Skeletal Dysplasia Panel | Whole Exome Sequencing | Carrier Testing for X-linked Disorders |
|---|---|---|---|---|
| Comparison | ARSE Gene Chondrodysplasia punctata, X-linked recessive NGS Genetic Test |
Frequently Asked Questions
What is the ARSE Gene Chondrodysplasia punctata NGS Genetic Test?
Who should get this test?
What are the symptoms of Chondrodysplasia punctata?
How is the test performed?
What is the cost of the test?
How long does it take to get results?
Is home sample collection available?
Can females be tested for this disorder?
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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.
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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