Reticulocyte Count Test
Short Name: Rett Syndrome Detection Test
Also known as: Rett Syndrome Genetic Test, MECP2 Gene Mutation Test, RTT Detection Test
Reticulocyte Count Test test available at DNA Labs India for ₹8,500. Uses PCR Sequencing on Whole Blood samples. Results in Samples received by 11 am are processed with reports issued after 13 days. Real-time tracking is available.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To confirm or rule out a clinical diagnosis of Rett syndrome by detecting pathogenic mutations in the MECP2 gene, and if negative, testing for CDKL5 and FOXG1 mutations that can cause Rett-like phenotypes.
- Test Code
- 3599
- ICD Code
- F84.2
- Price
- ₹8,500
- Sample Type
- Whole Blood
- Result Time
- Samples received by 11 am are processed with reports issued after 13 days. Real-time tracking is available.
- Fasting Required
- No
- Method
- PCR Sequencing
Sample Collection
No special preparation is required. Please ensure the Genomics Clinical Information Requisition Form (Form 20) is duly filled before providing the sample.
Method: Venipuncture
Laboratory Analysis
A blood sample will be drawn from a vein in the arm using sterile technique. The sample is collected in a lavender top (EDTA) tube.
Report Delivery
No special precautions are required. The sample will be shipped to the laboratory under refrigerated conditions. Do not freeze.
Timeline: Samples received by 11 am are processed with reports issued after 13 days. Real-time tracking is available.
Patient Instructions
About This Test
Who Should Get This Test
To confirm or rule out a clinical diagnosis of Rett syndrome by detecting pathogenic mutations in the MECP2 gene, and if negative, testing for CDKL5 and FOXG1 mutations that can cause Rett-like phenotypes.
How to Prepare
- Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
- Ship refrigerated. DO NOT FREEZE.
- Minimum 2 mL sample required.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Rett Syndrome often presents in early childhood with developmental regression. Early genetic confirmation helps guide family counselling and supportive care."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed, clotted, or frozen samples
- Insufficient sample volume (<2 mL)
- Improper label or missing requisition form
- Sample received after 1 week without refrigeration
Understanding Your Results
Positive
A pathogenic mutation in MECP2, CDKL5, or FOXG1 has been identified, confirming the diagnosis of Rett syndrome or an overlapping Rett-like disorder.
Negative
No pathogenic mutation was found in the tested genes. This does not rule out Rett syndrome, and further genetic testing may be recommended if clinical suspicion persists.
If your child has developmental regression, loss of speech or motor skills, repetitive hand movements, seizures, or difficulty breathing, consult a paediatric neurologist or clinical geneticist as early as possible. Early diagnosis and intervention can significantly improve the quality of life.
Risks & Considerations
- ●Minimal risk of bleeding, bruising, or infection at the needle puncture site
- ●Anxiety or discomfort during blood draw
- ●No specific radiation exposure
Interfering Factors
- ●Poor sample quality or degraded DNA may affect test results.
- ●Hemolysis, clotting, or improper sample handling may interfere with DNA extraction.
Compare With Similar Tests
| Test | Reticulocyte Count Test | Chromosomal Microarray Analysis | Whole Exome Sequencing |
|---|---|---|---|
| Comparison | Reticulocyte Count Test |
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