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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.

Also known asDowns Syndrome/ Ambiguous External Genitalia Aneuploidy Screening-5 Probes For Pediatric Only Aneuploidy Screening-5 Probes For Pediatric Only

Available via

Home Collection, Lab Visit

Contains

10 parameters

Earliest reports in

5 Working Days

Test details

Downs Syndrome Ambiguous External Genitalia Test in Karnal Overview

Preparations

No special preparations needed

Test included
Downs Syndrome Ambiguous External Genitalia includes 10 parameters

  • 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
Frequently Asked Questions

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
SpecimenVacutainerVolume
Heparin Whole BloodGreen Vacutainer5 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

Downs Syndrome Ambiguous External Genitalia

₹3700

Health Checkup Category

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