Glycogen storage disease type I diagnostic study of choice: Difference between revisions

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== Overview ==
== Overview ==
* The page name should be '''"Diagnostic study of choice for [disease name]"''', with only the first letter of the title capitalized. Note that the page is called "Diagnostic study of choice."
* '''Goal:'''
**To describe the most efficient/sensitive/specific test that is utilized for diagnosis of [disease name].
**To describe the gold standard test for the diagnosis of [disease name].
**To describe the diagnostic criteria, which may be based on clinical findings, physical exam signs, pathological findings, lab findings, findings on imaging, or even findings that exclude other diseases.
* As with all microchapter pages linking to the main page, at the top of the edit box put <nowiki>{{CMG}}</nowiki>, your name template, and the microchapter navigation template you created at the beginning.
* Remember to create links within WikiDoc by placing <nowiki>[[square brackets]]</nowiki> around key words which you want to link to other pages. Make sure you makes your links as specific as possible. For example, if a sentence contained the phrase anterior spinal artery syndrome, the link should be to [[anterior spinal artery syndrome]] not [[anterior]] or [[artery]] or [[syndrome]].  For more information on how to create links, click [[here]].
* Remember to follow the same format and capitalization of letters as outlined in the template below.
* You should include the name of the disease in the first sentence of every subsection.
== Diagnostic Study of Choice ==
== Diagnostic Study of Choice ==


===== Template statements =====
GSD type 1 is diagnosed by identification of proband by either of the following:
 
* Biallelic pathogenic variants in ''G6PC'' (GSDIa) or ''SLC37A4'' (GSDIb) on molecular genetic testing
=== Gold standard/Study of choice: ===
* Deficient hepatic enzyme activity
* [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 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 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 table for diagnostic studies of choice for [disease name] ====
{|
|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
! style="background: #FFFFFF; color: #FFFFFF; text-align: center;" |
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Sensitivity
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specificity
|-
! style="background: #696969; color: #FFFFFF; text-align: center;" |Test 1
| style="background: #DCDCDC; padding: 5px; text-align: center;" |✔
| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
|-
! style="background: #696969; color: #FFFFFF; text-align: center;" |Test 2
| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
| style="background: #DCDCDC; padding: 5px; text-align: center;" |✔
|}
<small> ✔= The best test based on the feature </small>
 
===== 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 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 [[Endocarditis diagnosis|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].
 
 
==References==
==References==

Revision as of 16:56, 20 November 2017

Glycogen storage disease type I Microchapters

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Diagnostic Study of Choice

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

Overview

Diagnostic Study of Choice

GSD type 1 is diagnosed by identification of proband by either of the following:

  • Biallelic pathogenic variants in G6PC (GSDIa) or SLC37A4 (GSDIb) on molecular genetic testing
  • Deficient hepatic enzyme activity

References