DCAF17 Gene Hypogonadism, alopecia, Diabetes mellitus, mental retardation and extrapyramidal syndrome NGS Genetic Test
Short Name: DCAF17 NGS Test
Also known as: DCAF17 Gene Mutation Test, Woodhouse-Sakati Syndrome Genetic Test
DCAF17 Gene Hypogonadism, alopecia, Diabetes mellitus, mental retardation and extrapyramidal syndrome 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 Reports are typically available within 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
To confirm a clinical diagnosis of DCAF17-related syndrome, identify the specific genetic mutation, and facilitate informed family planning and management decisions.
- Test Code
- 5785
- CPT Code
- 81407
- ICD Code
- E23.0, L64, E11.9, F70, G25.9
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting required. Inform your doctor about any medications or supplements.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample will be drawn by a trained phlebotomist.
Report Delivery
No special precautions. You can resume normal activities.
Timeline: Reports are typically available within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
To confirm a clinical diagnosis of DCAF17-related syndrome, identify the specific genetic mutation, and facilitate informed family planning and management decisions.
How to Prepare
- For blood sample: Use EDTA vacutainer, mix gently.
- For FTA card: Apply one drop of blood, let dry completely.
- Label the sample with patient ID and date.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"This test is essential for confirming DCAF17-related disorders, enabling early intervention and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood
- Insufficient sample volume
- Improper labeling
- Sample received after prolonged transit time
Understanding Your Results
Negative
No pathogenic variants detected. Clinical diagnosis may still be considered based on symptoms.
Action: Consider other genetic causes or re-evaluate clinical findings.
Positive
Pathogenic variant identified. Confirms diagnosis of DCAF17-related syndrome.
Action: Genetic counseling, family screening, and management of symptoms.
VUS
Variant of uncertain significance. Not enough evidence to classify as pathogenic or benign.
Action: Further segregation analysis or functional studies may be needed.
If you or a family member exhibit symptoms such as delayed puberty, hair loss, diabetes, intellectual disability, or movement disorders, consult a geneticist or endocrinologist for evaluation.
Limitations
- ⚠This test detects mutations in the DCAF17 gene only; other genes may be involved.
- ⚠Large deletions/duplications may not be detected by standard NGS.
- ⚠Variant of uncertain significance (VUS) may require further analysis.
- ⚠Not a substitute for clinical evaluation.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for incidental findings
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination during sample collection
- ●Recent blood transfusion (within 2 weeks)
- ●Bone marrow transplantation
Compare With Similar Tests
| Test | DCAF17 Gene Hypogonadism, alopecia, Diabetes mellitus, mental retardation and extrapyramidal syndrome NGS Genetic Test | Whole Exome Sequencing | Targeted Gene Panel | Sanger Sequencing |
|---|---|---|---|---|
| Comparison | DCAF17 Gene Hypogonadism, alopecia, Diabetes mellitus, mental retardation and extrapyramidal syndrome NGS Genetic Test |
Frequently Asked Questions
What is the DCAF17 gene test?
What is the cost of the DCAF17 gene test in India?
What sample is required for the test?
How long does it take to get results?
Is fasting required before the test?
Who should consider this test?
What does a positive result mean?
Can this test be done during pregnancy?
Are there any risks associated with the test?
Is genetic counseling provided?
Can the test detect all DCAF17 mutations?
Is home sample collection available?
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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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