Friedreich's ataxia diagnostic study of choice: Difference between revisions

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== Diagnostic Study of Choice ==
== Diagnostic Study of Choice ==
 
===Study of choice===
=== Study of choice ===
Triplet Repeat Primed PCR (TP PCR) is the gold standard test for the diagnosis of Friedreich’s Ataxia.
[Name of the investigation] is the gold standard test for the diagnosis of [disease name].
=====Diagnostic results=====
 
The following finding on performing genetic testing is confirmatory for Friedreich’s Ataxia:
OR
*GAA [[trinucleotide repeat]] in the first [[intron]] of the [[Frataxin|frataxin gene]] on chromosome 9q13.
 
=====Sequence of Diagnostic Studies=====
The following result of [gold standard test] is confirmatory of [disease name]:
The TP PCR must be performed when:
* [Result 1]
*The patient presented with symptoms of Friedreich’s Ataxia.
* [Result 2]
*History of [[neuromuscular]] disorders in a family because the Friedreich’s Ataxia is an [[Autosomal recessive disorder|autosomal recessive disease]] and some [[heterozygous]] traits may be asymptomatic.
 
OR
 
[Name of the investigation] must be performed when:
* The patient presents with [symptom/sign 1], [symptom/sign 2], and [symptom/sign 3].
* A [name of test] is positive for [sign 1], [sign 2], and [sign 3] in the patient.
 
OR
 
[Name of the investigation] is the gold standard test for the diagnosis of [disease name].
 
OR
 
The diagnostic study of choice for [disease name] is [name of the investigation].
 
OR
 
There is no single diagnostic study of choice for the diagnosis of [disease name].
 
OR
 
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].
 
OR
 
[Disease name] is primarily diagnosed based on the clinical presentation.
 
OR
 
Investigations:
* Among the patients who present with clinical signs of [disease name], the [investigation name] is the most specific test for the diagnosis.
* Among the patients who present with clinical signs of [disease name], the [investigation name] is the most sensitive test for diagnosis.
* Among the 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] ====
{|
|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
! style="background: #4479BA; color: #FFFFFF; text-align: center;" | Test
! 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> [Name of test with higher sensitivity and specificity] is the preferred investigation based on the sensitivity and specificity</small>
 
===== Diagnostic results =====
The following finding(s) on performing [investigation name] is(are) confirmatory for [disease name]:
* [Finding 1]
* [Finding 2]
 
===== Sequence of Diagnostic Studies =====
The [name of investigation] must 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.
 
OR
 
The various investigations must be performed in the following order:
* [Initial investigation]
* [2nd investigation]
 
=== Name of Diagnostic Criteria ===
 
'''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.'''
 
[Disease name] is primarily diagnosed based on clinical presentation. There are no established criteria for the diagnosis of [disease name].
 
OR
 
There is no single diagnostic study of choice for [disease name], though [disease name] may be diagnosed based on [name of criteria] established by [...].
 
OR
 
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].
 
OR
 
The diagnosis of [disease name] is based on the [criteria name] criteria, which includes [criterion 1], [criterion 2], and [criterion 3].
 
OR
 
[Disease name] may be diagnosed at any time if one or more of the following criteria are met:
* Criteria 1
* Criteria 2
* Criteria 3
 
OR
 
'''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].
 
OR
 
The diagnosis of [disease name] is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3].
 
OR
 
The diagnosis of [disease name] is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3].
 
OR
 
'''IF there are no established diagnostic criteria'''
 
There are no established criteria for the diagnosis of [disease name].
 
==References==
==References==
{{Reflist|2}}
{{Reflist|2}}
{{WH}}
{{WH}}
{{WS}}
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Revision as of 18:30, 15 April 2019


Template:Friedreich’s ataxia

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mohamadmostafa Jahansouz M.D.[2]

Overview

Diagnostic Study of Choice

Study of choice

Triplet Repeat Primed PCR (TP PCR) is the gold standard test for the diagnosis of Friedreich’s Ataxia.

Diagnostic results

The following finding on performing genetic testing is confirmatory for Friedreich’s Ataxia:

Sequence of Diagnostic Studies

The TP PCR must be performed when:

References

Template:WH Template:WS

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