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GTR Home > Tests > Mutation analysis of Sickle cell anemia

Overview

Test order codeHelp: FDHEM2

Test name

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Mutation analysis of Sickle cell anemia

Purpose of the test

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

Condition

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How to order

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

Specimen source

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

Methodology

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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

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Not provided

Clinical validity

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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

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.