Fanconi anemia laboratory findings

Fanconi anemia Microchapters
Home
Patient Information
Overview
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Fanconi anemia from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
Diagnostic Study of Choice
History and Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
X Ray
CT
MRI
Ultrasound
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Primary Prevention
Secondary Prevention
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Case Studies
Case #1
Fanconi anemia laboratory findings On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of Fanconi anemia laboratory findings All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Fanconi anemia laboratory findings
CDC on Fanconi anemia laboratory findings
Fanconi anemia laboratory findings in the news
Blogs on Fanconi anemia laboratory findings
Directions to Hospitals Treating Fanconi anemia
Risk calculators and risk factors for Fanconi anemia laboratory findings

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

Overview

An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name].

OR

Laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].

OR

[Test] is usually normal for patients with [disease name].

OR

Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].

OR

There are no diagnostic laboratory findings associated with [disease name].

Laboratory Findings

• There are no diagnostic laboratory findings associated with [disease name].

OR

{{Family tree/end}

• An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name].
• [Test] is usually normal among patients with [disease name].
• Laboratory findings consistent with the diagnosis of [disease name] include:
  • [Abnormal test 1]
  • [Abnormal test 2]
  • [Abnormal test 3]

• Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].

References

Suspected clinical FA

Chromosome breakage test on peripheral film

Ambiguous

Repeat Chromosome breakage test

Abnormal

Normal

Highly suspected FA

Not highly suspected FA

Chromosome breakage test on skin fibroblast

Abnormal

Normal

Consider other IBMFS

Diagnosis of FA

Genetic testing for Korean mutations FANCAexon 27 & 37 FANCGintron 3 & exon 8

Other FA associated genes