DOWNS SYNDROME AMBIGUOUS EXTERNAL GENITALIA
A genetic test to detect chromosomal abnormalities in pediatric patients. It screens for common aneuploidies like Down syndrome, Edwards syndrome, and Patau syndrome using five specific probes. The test is crucial for early diagnosis and management of genetic disorders.
DOWNS SYNDROME AMBIGUOUS EXTERNAL GENITALIA Test in Bengaluru Overview
No special preparations needed
- Clinical Indications
- 1st Hybridization (green Chr 13)
- 1st Hybridization (orange Chr 21)
- Total Number Of Cells Analyzed
- Interpretation
- 2nd Hybridization (aqua Chr 18)
- 2nd Hybridization (green Chr X)
- 2nd Hybridization (orange Chr Y)
- Total Number Of Cells Analysed
- Interpretation
This test evaluates genetic markers and hormone levels to diagnose Down syndrome or ambiguous genitalia conditions in newborns.
Newborns showing atypical genital development or those with suspected chromosomal abnormalities may require this test.
Blood samples, karyotyping, and hormonal assessments are performed to confirm the diagnosis.
Abnormal genetic markers may confirm Down syndrome or other chromosomal disorders affecting genital development.
Management depends on the diagnosis and may include hormone therapy, surgery, or genetic counseling.
Test code
5814F
Specimen vol. and vacutainer information
| Specimen | Vacutainer | Volume |
|---|---|---|
| Heparin Whole Blood | Green Vacutainer | 5 ML |
Specimen stability information
Heparin Whole Blood
Specimen rejection criteria
Test run frequency
Every Day TIME - 07:00
Turn around time
5 Working Days
Performing locations
Department
- Cytogenetics
CPT and Loinc codes
Package price
₹3700
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₹3700