C12orf57 Gene Temtamy syndrome NGS Genetic Test
Short Name: C12orf57 NGS
Also known as: Temtamy-Shalash syndrome genetic test, C12orf57 mutation analysis
C12orf57 Gene Temtamy 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 delivered within 3 to 4 weeks after the sample reaches the 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
The purpose of the C12orf57 gene NGS genetic test is to identify pathogenic mutations in the C12orf57 gene that cause Temtamy syndrome. This test is indicated for individuals presenting with clinical features suggestive of the syndrome, such as intellectual disability, microcephaly, hearing loss, and distinctive facial dysmorphism. It is also used for confirmatory diagnosis in patients with a clinical suspicion, for carrier testing in family members, and for prenatal diagnosis in at-risk pregnancies. The test aids in differentiating Temtamy syndrome from other overlapping genetic conditions, thereby facilitating accurate prognosis, management, and genetic counseling.
- Test Code
- 5954
- 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 delivered within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended before the test to discuss the implications and obtain informed consent.
Method: Venipuncture or Finger-prick
Laboratory Analysis
A blood sample will be drawn from a vein in your arm, or a finger-prick blood spot will be collected on an FTA card. The procedure is quick and minimally invasive.
Report Delivery
You can resume normal activities immediately. The sample will be sent to the laboratory for analysis. Results will be available in 3 to 4 weeks.
Timeline: Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the C12orf57 gene NGS genetic test is to identify pathogenic mutations in the C12orf57 gene that cause Temtamy syndrome. This test is indicated for individuals presenting with clinical features suggestive of the syndrome, such as intellectual disability, microcephaly, hearing loss, and distinctive facial dysmorphism. It is also used for confirmatory diagnosis in patients with a clinical suspicion, for carrier testing in family members, and for prenatal diagnosis in at-risk pregnancies. The test aids in differentiating Temtamy syndrome from other overlapping genetic conditions, thereby facilitating accurate prognosis, management, and genetic counseling.
How to Prepare
- No fasting required.
- Inform the lab if you have had a blood transfusion in the past 3 months.
- For FTA card, ensure the blood spot is completely dried before packaging.
- Maintain sample at ambient temperature during transport.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Temtamy syndrome is a rare autosomal recessive disorder. Early genetic confirmation is crucial for management and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Incorrect labeling
- Sample received after prolonged transit (>7 days) without proper storage
Understanding Your Results
Positive
Pathogenic variant detected. Confirms diagnosis of Temtamy syndrome. Genetic counseling recommended for family members.
Negative
No pathogenic variant detected. Does not rule out the syndrome; consider other genetic causes.
Variant of Uncertain Significance (VUS)
A variant was found but its clinical significance is unknown. Further testing or family studies may be needed.
If you or your child have symptoms suggestive of Temtamy syndrome, such as intellectual disability, microcephaly, hearing loss, or distinctive facial features, consult a clinical geneticist or pediatrician for evaluation and genetic testing.
Limitations
- ⚠This test detects mutations in the C12orf57 gene only; other genes may also cause similar phenotypes.
- ⚠Variants of uncertain significance (VUS) may be reported; further testing may be required.
- ⚠NGS may not detect large deletions/duplications or deep intronic variants.
- ⚠Negative results do not completely rule out the syndrome if clinical suspicion is high.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving a genetic diagnosis
- ●Potential for variants of uncertain significance causing anxiety
Interfering Factors
- ●Poor quality DNA due to improper sample handling
- ●Contamination during sample collection
- ●Recent blood transfusion (may dilute DNA)
- ●Bone marrow transplantation (may affect results)
Compare With Similar Tests
| Test | C12orf57 Gene Temtamy syndrome NGS Genetic Test | Whole Exome Sequencing (WES) | Chromosomal Microarray (CMA) | Targeted Mutation Analysis |
|---|---|---|---|---|
| Comparison | C12orf57 Gene Temtamy syndrome NGS Genetic Test |
Frequently Asked Questions
What is Temtamy syndrome?
How is the C12orf57 gene test performed?
What is the cost of the test?
How long does it take to get results?
Is fasting required before the test?
What sample is needed?
Can the test be done at home?
What does a positive result mean?
What does a negative result mean?
Who should consider this test?
Is genetic counseling included?
Are there any risks associated with the test?
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