Fanconi syndrome diagnostic study of choice

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Diagnostic Study of Choice

Study of choice

• [Name of the investigation] is the gold standard test for the diagnosis of [disease name].
• The following result of [gold standard test] is confirmatory of [disease name]:
  • Result 1
  • Result 2
• The [name of the investigation] should be performed when:
  • The patient presented with symptoms/signs 1. 2, 3.
  • A positive [test] is detected in the patient.
• [Name of the investigation] is the gold standard test for the diagnosis of [disease name].
• The diagnostic study of choice for [disease name] is [name of the investigation].
• There is no single diagnostic study of choice for the diagnosis of [disease name].
• There is no single diagnostic study of choice for the diagnosis of [disease name], but [disease name] can be diagnosed based on [name of the investigation 1] and [name of the investigation 2].
• [Disease name] is mainly diagnosed based on clinical presentation.
• Investigations:
  • Among patients who present with clinical signs of [disease name], the [investigation name] is the most specific test for the diagnosis.
  • Among patients who present with clinical signs of [disease name], the [investigation name] is the most sensitive test for diagnosis.
  • Among patients who present with clinical signs of [disease name], the [investigation name] is the most efficient test for diagnosis.

The comparison of various diagnostic studies for [disease name]

Test	Sensitivity	Specificity
Test 1	✔	...%
Test 2	...%	✔

✔= The best test based on the feature

Diagnostic results

The following result of [investigation name] is confirmatory of [disease name]:

• Result 1
• Result 2

Sequence of Diagnostic Studies

The [name of investigation] should be performed when:

• The patient presented with symptoms/signs 1, 2, and 3 as the first step of diagnosis.
• A positive [test] is detected in the patient, to confirm the diagnosis.

Diagnostic Criteria

• Here you should describe the details of the diagnostic criteria.
• Always mention the name of the criteria/definition you are about to list (e.g. modified Duke criteria for the diagnosis of endocarditis / 3rd universal definition of MI) and cite the primary source of where this criteria/definition is found.
• Although not necessary, it is recommended that you include the criteria in a table. Make sure you always cite the source of the content and whether the table has been adapted from another source.
• Be very clear as to the number of criteria (or threshold) that needs to be met out of the total number of criteria.
• Distinguish criteria based on their nature (e.g. clinical criteria / pathological criteria/ imaging criteria) before discussing them in details.
• To view an example (endocarditis diagnostic criteria), click here
• If relevant, add additional information that might help the reader distinguish various criteria or the evolution of criteria (e.g. original criteria vs. modified criteria).
• You may also add information about the sensitivity and specificity of the criteria, the pre-test probability, and other figures that may help the reader understand how valuable the criteria are clinically.
• [Disease name] is mainly diagnosed based on clinical presentation. There are no established criteria for the diagnosis of [disease name].
• There is no single diagnostic study of choice for [disease name], though [disease name] may be diagnosed based on [name of criteria] established by [...].

• The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
• The diagnosis of [disease name] is based on the [criteria name] criteria, which includes [criterion 1], [criterion 2], and [criterion 3].

• [Disease name] may be diagnosed at any time if one or more of the following criteria are met:
  • Criteria 1
  • Criteria 2
  • Criteria 3

IF there are clear, established diagnostic criteria:

• The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
• The diagnosis of [disease name] is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3].
• The diagnosis of [disease name] is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3].

IF there are no established diagnostic criteria: 

• There are no established criteria for the diagnosis of [disease name].