CDKN1C Gene IMAGE syndrome NGS Genetic Test
Short Name: CDKN1C NGS
Also known as: CDKN1C Gene Sequencing, IMAGE Syndrome Genetic Test, CDKN1C Mutation Analysis
CDKN1C Gene IMAGE 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
The purpose of this test is to detect mutations in the CDKN1C gene that cause IMAGE syndrome. It is indicated for individuals with clinical features suggestive of IMAGE syndrome, such as growth restriction, metaphyseal dysplasia, adrenal hypoplasia, and genital anomalies. Genetic confirmation helps in prognosis, management, and family planning.
- Test Code
- 5795
- CPT Code
- 81407
- ICD Code
- Q87.8
- 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 special preparation required. However, a genetic counseling session is recommended to discuss the implications of the test.
Method: Venipuncture or FTA card spot
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. For FTA card, a few drops of blood will be spotted on the card.
Report Delivery
No restrictions. Resume normal activities immediately.
Timeline: Reports are typically available within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the CDKN1C gene that cause IMAGE syndrome. It is indicated for individuals with clinical features suggestive of IMAGE syndrome, such as growth restriction, metaphyseal dysplasia, adrenal hypoplasia, and genital anomalies. Genetic confirmation helps in prognosis, management, and family planning.
How to Prepare
- Ensure the patient's clinical history is provided
- Use EDTA vacutainer for blood collection
- For FTA card, allow blood to dry completely before packaging
- Label the sample with patient ID and date
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for IMAGE syndrome is crucial for early diagnosis and management. NGS provides comprehensive analysis of the CDKN1C gene, aiding in accurate clinical decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received without clinical history
Understanding Your Results
Positive (Pathogenic variant)
Confirms diagnosis of IMAGE syndrome. Genetic counseling and management of adrenal insufficiency and other features recommended.
Negative (No variant)
No mutation detected in CDKN1C. Other genetic causes should be considered.
Variant of Uncertain Significance (VUS)
A variant was found but its clinical significance is unclear. Further testing of family members may be needed.
Consult a clinical geneticist or pediatrician if the test result is positive or if symptoms suggestive of IMAGE syndrome are present. Early intervention can improve outcomes.
Limitations
- ⚠NGS may not detect large deletions/duplications or deep intronic variants
- ⚠Variant of uncertain significance (VUS) may require further analysis
- ⚠Test does not assess other genes associated with similar phenotypes
Risks & Considerations
- ●Minimal risk of bruising at blood draw site
- ●Psychological impact of genetic results
- ●Potential for uncertain results (VUS)
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Incomplete clinical information
- ●Presence of maternal cell contamination in prenatal samples
Compare With Similar Tests
| Test | CDKN1C Gene IMAGE syndrome NGS Genetic Test | Whole Exome Sequencing | Chromosomal Microarray |
|---|---|---|---|
| Comparison | CDKN1C Gene IMAGE syndrome NGS Genetic Test | WES analyzes all coding regions of genes, while this test focuses only on CDKN1C. WES may be considered if CDKN1C is negative. | CMA detects copy number variations, not point mutations. Useful for detecting deletions/duplications in CDKN1C region. |
Frequently Asked Questions
What is IMAGE syndrome?
How is the CDKN1C gene test performed?
What is the cost of the CDKN1C gene test?
How long does it take to get results?
Is fasting required for this test?
Can this test be done on children?
What does a positive result mean?
What if the result is negative?
Is genetic counseling included?
Can I provide a sample from home?
Are there any risks associated with the test?
Is this test covered by insurance?
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₹20,000Reference Laboratory Services
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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