NSDHL Gene CHILD Syndrome NGS Genetic Test
Also known as: NSDHL Gene Sequencing, CHILD Syndrome NGS Test, NSDHL Genetic Test
NSDHL Gene CHILD Syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Sequencing for variant confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are delivered within 3 to 4 weeks after the sample is received at the DNA Labs India laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
To confirm the clinical suspicion of CHILD syndrome by detecting a pathogenic mutation in the NSDHL gene using NGS technology.
- Test Code
- 3950
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are delivered within 3 to 4 weeks after the sample is received at the DNA Labs India laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger Sequencing for variant confirmation
Sample Collection
No special preparation is required. Provide a complete clinical history, including symptoms, family history, and any previous imaging or laboratory findings.
Method: Venipuncture / Fingerstick / FTA card spot
Laboratory Analysis
Sample collection is quick and involves either a simple blood draw, finger-prick blood spot on FTA card, or submission of extracted DNA. No pain and no anesthesia are required.
Report Delivery
Resume normal activities immediately. The sample will be transported to the laboratory under appropriate conditions.
Timeline: Reports are delivered within 3 to 4 weeks after the sample is received at the DNA Labs India laboratory.
Patient Instructions
About This Test
Who Should Get This Test
To confirm the clinical suspicion of CHILD syndrome by detecting a pathogenic mutation in the NSDHL gene using NGS technology.
How to Prepare
- Fill the requisition form with accurate clinical details and family pedigree
- Ensure the sample container is correctly labeled with the patient's name and unique ID
- Ship the sample at ambient room temperature; avoid freezing whole blood
- For FTA card, allow the spot to air dry completely before packaging
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"CHILD syndrome requires a multidisciplinary approach. Referral to a clinical geneticist is important to confirm the diagnosis, assess recurrence risk, and coordinate care with dermatology and orthopedics."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood sample
- Insufficient sample volume
- Improperly labeled sample container
- Sample exposed to extreme temperatures during transit
Understanding Your Results
Positive
A pathogenic/likely pathogenic variant in NSDHL was detected, confirming the diagnosis of CHILD syndrome.
Negative
No pathogenic variant was identified in the NSDHL gene. Clinical suspicion may still require broader genetic testing or alternative diagnoses.
Variant of unknown significance (VUS)
A variant was detected but its clinical significance is unclear; familial testing or cosegregation analysis may be recommended.
Consult a clinical geneticist or referring neurologist immediately if your child has one-sided skin lesions, limb malformations, developmental delay, or any combination of these features. Early diagnosis can guide management.
Limitations
- ⚠NGS may not detect large deletions, duplications, or deep intronic variants in the NSDHL gene
- ⚠This targeted test evaluates only the NSDHL gene; causal variants in other genes are not identified
- ⚠Some variants may be classified as variant of unknown significance (VUS), requiring clinical correlation and family studies
Risks & Considerations
- ●Mild bruising at the venipuncture site
- ●Infection (rare)
- ●Dizziness or fainting during blood draw
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination of sample
- ●Incomplete sequencing coverage due to complex genomic regions
- ●Variants of uncertain significance requiring segregation analysis
Frequently Asked Questions
What is the cost of the NSDHL Gene CHILD Syndrome NGS Genetic Test at DNA Labs India?
What is CHILD syndrome?
What are the symptoms of CHILD syndrome?
Is fasting required for this test?
What sample type is needed?
How long will it take to get the results?
Is home sample collection available?
How will I receive my reports?
Do I need genetic counselling before the test?
Can this test be used for prenatal diagnosis?
What does a positive test result mean?
Will I receive raw sequence data?
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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.
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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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