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GTR Home > Tests > Fanconi anemia, complementation group D2, 227646, Autosomal recessive; FANCD2 (Fanconi anemia) (MLPA)

Overview

Test order codeHelp: 5981

Test name

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Fanconi anemia, complementation group D2, 227646, Autosomal recessive; FANCD2 (Fanconi anemia) (MLPA)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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How to order

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Not provided

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)

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

Practice guidelines

  • FARF, 2020
    Fanconi Anemia Clinical Care Guidelines, Fifth Edition.
  • FARF, 2008
    Fanconi Anemia Research Fund, Guidelines for Diagnosis and Management, 2008 (See 2020 Update)

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