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GTR Home > Tests > Mutation analysis of Sickle cell anemia


Test order codeHelp: FDHEM2

Test name


Mutation analysis of Sickle cell anemia

Purpose of the test


This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Pre-implantation genetic diagnosis, Risk Assessment, Screening



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Click Indication tab for more information.

How to order


Order URL Help: http://www.cdfd.org.in/servicespages/diagnostics.html

Specimen source

Amniotic fluid
Cell culture
Chorionic villi
Cord blood
Fetal blood
Isolated DNA
Peripheral (whole) blood


Molecular Genetics
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
  • Applied Biosystems 3730 capillary sequencing instrument

Summary of what is tested

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Clinical utility


Not provided

Clinical validity


Not provided

Clinical resources

Practice guidelines

  • ACMG ACT, 2023
    ACMG ACT, Hemoglobin S/Beta Plus Thalassemia , 2023
  • ACMG Algorithm, 2023
    ACMG Algorithm, FSA: Hemoglobin HbS/B+ Screening Result, 2023
  • ACMG ACT, 2012
    American College of Medical Genetics and Genomics, Transition to Adult Health Care ACT Sheet, Sickle Cell Disease, 2012
  • ACMG ACT Sheet, 2010
    American College of Medical Genetics ACT SHEET, Hemoglobin S/Beta plus Thalassemia, 2010
  • ACMG Algorithm, 2009
    American College of Medical Genetics and Genomics, Algorithm, Hb S Screening, 2009

Consumer resources

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