CEP57 Gene Mosaic variegated aneuploidy syndrome type 2 NGS Genetic Test
Short Name: CEP57 NGS Test
Also known as: CEP57 Gene Mutation Test, MVA2 Genetic Test, CEP57 NGS Analysis
CEP57 Gene Mosaic variegated aneuploidy syndrome type 2 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 delivered 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 primary purpose of this test is to confirm a clinical suspicion of Mosaic Variegated Aneuploidy Syndrome Type 2 by identifying mutations in the CEP57 gene. It also aids in carrier testing for at-risk family members, prenatal diagnosis in affected families, and providing prognostic information for early intervention and cancer surveillance.
- Test Code
- 5857
- CPT Code
- 81407
- ICD Code
- Q99.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically delivered 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 prior to testing to discuss implications.
Method: Venipuncture or Finger-prick
Laboratory Analysis
A blood sample is drawn by a trained phlebotomist. For FTA card, a simple finger-prick is sufficient.
Report Delivery
No restrictions. Patient can resume normal activities immediately.
Timeline: Reports are typically delivered within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this test is to confirm a clinical suspicion of Mosaic Variegated Aneuploidy Syndrome Type 2 by identifying mutations in the CEP57 gene. It also aids in carrier testing for at-risk family members, prenatal diagnosis in affected families, and providing prognostic information for early intervention and cancer surveillance.
How to Prepare
- Ensure patient identity verification
- Use sterile EDTA vacutainer for blood
- If using FTA card, allow blood to dry completely
- Label sample with patient name and date
- Transport at ambient temperature
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"CEP57 mutations are rare but should be considered in patients with unexplained aneuploidy, growth retardation, and microcephaly. Early genetic diagnosis enables appropriate surveillance for malignancies and developmental support."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Insufficient sample volume
- Improper labeling
- Sample received after prolonged transit without proper storage
Understanding Your Results
Positive (Pathogenic variant)
Confirms diagnosis of MVA2. Genetic counseling recommended for family members.
Negative (No variant)
No mutation detected in CEP57. Consider other genetic causes if clinical suspicion remains.
Variant of Uncertain Significance (VUS)
Further testing of family members may help classify the variant.
If you or your child have symptoms such as growth delay, microcephaly, intellectual disability, or a family history of MVA2, consult a clinical geneticist for evaluation and testing.
Limitations
- ⚠NGS may not detect deep intronic variants or large structural rearrangements
- ⚠Mosaic variants with low allele frequency may be missed
- ⚠Variant of uncertain significance (VUS) may require further family studies
- ⚠Test does not assess other genes associated with aneuploidy syndromes
Risks & Considerations
- ●Minimal risk of bruising at venipuncture site
- ●No significant health risks associated with the test
Interfering Factors
- ●Contamination of sample with maternal cells (if prenatal)
- ●Low DNA quality or quantity
- ●Mosaicism may be below detection limit of NGS
- ●Presence of large deletions/duplications not detected by standard NGS
Compare With Similar Tests
| Test | CEP57 Gene Mosaic variegated aneuploidy syndrome type 2 NGS Genetic Test | Chromosomal Microarray (CMA) | Karyotype | Whole Exome Sequencing (WES) |
|---|---|---|---|---|
| Comparison | CEP57 Gene Mosaic variegated aneuploidy syndrome type 2 NGS Genetic Test |
Frequently Asked Questions
What is Mosaic Variegated Aneuploidy Syndrome Type 2?
How is the CEP57 gene test performed?
What is the cost of the CEP57 NGS test?
Is fasting required before the test?
How long does it take to get results?
Can this test detect all types of CEP57 mutations?
Who should consider this test?
Is genetic counseling included?
What sample types are accepted?
Is the test available across India?
What does a positive result mean?
Are there any risks associated with the test?
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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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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
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