Fragile X syndrome other diagnostic studies

Jump to navigation Jump to search


Fragile X syndrome Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Fragile X syndrome from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Fragile X syndrome other diagnostic studies On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Fragile X syndrome other diagnostic studies

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Fragile X syndrome other diagnostic studies

CDC on Fragile X syndrome other diagnostic studies

Fragile X syndrome other diagnostic studies in the news

Blogs on Fragile X syndrome other diagnostic studies

Directions to Hospitals Treating Fragile X syndrome

Risk calculators and risk factors for Fragile X syndrome other diagnostic studies

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

The diagnosis of fragile X syndrome is confirmed by molecular genetic testing of the FMR1 gene. Patient DNA (often extracted from blood) can be analyze to look for changes in FMR1 gene. Prenatal testing is available to look for FMR1 gene alterations.

Other Diagnostic Studies

Fragile X syndrome was originally diagnosed by culturing cells in a folate deficient medium and then assessing the cultures for X-chromosome breakage by cytogenetic analysis of the long arm of the X chromosome. This technique proved unreliable for both diagnosis and carrier testing.

The fragile X abnormality is now directly determined by analysis of the number of CGG repeats and their methylation status using restriction endonuclease digestion and Southern blot analysis.

References

Template:WH

Template:WS