PCR and Southern blot do not have a schedule number for the diagnosis of fragile X syndrome or cascade testing Page 18 Genetic test for fragile X 9 Approach
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[PDF] FRAGILE X DNA TESTING: A GUIDE FOR PHYSICIANS AND
Testing for the fragile X mutation is based primarily on measuring the length of the FMR1 gene region containing the CGG repeat stretch and then calculating the CGG repeat number Analysis of the gene's methylation status (i e whether the gene is turned 'off' or 'on') is often performed simultaneously
[PDF] Genetic test for fragile X syndrome - Medical Services Advisory
PCR and Southern blot do not have a schedule number for the diagnosis of fragile X syndrome or cascade testing Page 18 Genetic test for fragile X 9 Approach
[PDF] Fragile X Syndrome Testing - eviCore
2,4 The same analysis can be used for diagnostic, carrier, and prenatal testing • FMR1 CGG methylation analysis is typically assessed in those with a premutation
[PDF] Fragile X Testing - My Doctor Online
Fragile X syndrome is caused by a genetic change (mutation) in the Fragile X Mental Retardation (FMR1) gene The FMR1 gene makes a protein that is found in
Screening for Fragile X Syndrome - Nature
Key Words: genetic screening, fragile X syndrome, parent attitudes Research Diagnostic technology has kept apace as over 400 genetic tests are available in
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Genetic test for fragile X syndrome
January 2002
MSAC application 1035
Assessment report
© Commonwealth of Australia 2002
ISBN 0 642 82123 2
ISSN (Print) 1443-7120
ISSN (Online) 1443-7139
First printed: September 2002
This work is copyright. Apart from any use as permitted under the Copyright Act 1968, no part may be reproduced by any process without prior written permission from the Commonwealth available from the Department of Communications, Information Technology and the Arts. Requests and inquiriesconcerning reproduction and rights should be addressed to the Manager, Copyright Services, Info Access,
GPO Box 1920, Canberra ACT 2601.
Electronic copies of the report can be obtained from the Medical Service Advisory Committee's Internet site at:
http://www.msac.gov.auHard copies of the report can be obtained from:
The Secretary
Medical Services Advisory Committee
Department of Health and Ageing
Mail Drop 61
GPO Box 9848
Canberra ACT 2601
Inquiries about the content of the report should be directed to the above address.The Medical Services Advisory Committee is an independent committee which has been established to provide
advice to the Commonwealth Minister for Health and Ageing on the strength of evidence available on new and
existing medical technologies and procedures in terms of their safety, effectiveness and cost-effectiveness. This
advice will help to inform Government decisions about which medical services should attract funding under
Medicare.
This report was prepared by the Medical Services Advisory Committee with the assistance of Ms Ornella Clavisi, Dr
Renea Johnston, Mr Jason Wasiak, Ms Alexandra Raulli and Ms Emily Petherick (Monash Institute of Health
Services Research) and Dr Bruce Hollingsworth (Health Economics Unit) from Monash University. The report was
endorsed by the Commonwealth Minister for Health and Ageing on 20 August 2002.Publication approval number: 3128
MSAC recommendations do not necessarily reflect the views of all individuals who participated in the MSAC evaluation.Genetic test for fragile Xiii
Contents
Executive summary ......................................................................................................v
Fragile X (A) syndrome........................................................................................................2
The procedure..................................................................................................................3
Intended purpose............................................................................................................4
Clinical need/burden of disease.........................................................................................4
Existing procedures...............................................................................................................7
Marketing status of the device/technology......................................................................8
Current reimbursement arrangement................................................................................8
Approach to assessment...............................................................................................9
Review of literature................................................................................................................9
Search Results.......................................................................................................................11
Assessment of validity.........................................................................................................12
Expert advice.........................................................................................................................14
Results of assessment.................................................................................................15
Is it safe?.................................................................................................................................15
Is it effective?........................................................................................................................16
What are the economic considerations?.........................................................................31
Appendix A MSAC terms of reference and membership.......................................39Appendix B Supporting committee ........................................................................41
Appendix C Studies included in the review............................................................42
Appendix D Literature on economic costs of fragile X testing.............................45References ...................................................................................................................47
ivGenetic test for fragile XTables
Table 1 Prevalence of Fragile X as determined by DNA molecular tests..........................6 Table 2 Electronic databases (including edition) accessed for the literature review......10Table 3 Search terms used for the literature review..............................................................10
Table 4 Item 1-Selected articles listed by question................................................................12
Table 5 Criteria and definitions for assessing validity of included articles.......................13
Table 6 Criteria and definitions for assessing validity of intervention studies................13 Table 7 The generic relationship between results of the diagnostic test and diseaseTable 8 Study characteristics.......................................................................................................18
Table 9 Assessment of validity....................................................................................................18
Table 10 Test results (PCR as reference)....................................................................................19
Table 11 Diagnostic characteristics..............................................................................................19
Table 12 Study characteristics.......................................................................................................20
Table 13 Assessment of validity....................................................................................................21
Table 14 Test results (Southern blot as reference)...................................................................22
Table 15 Diagnostic characteristics (Southern blot as reference).........................................22
Table 16 Study characteristics.......................................................................................................23
Table 17 Assessment of validity....................................................................................................23
Table 18 Test results (PCR/Southern as reference)................................................................24
Table 19 Diagnostic characteristics (PCR/Southern as reference)......................................24
Table 20 Study characteristics.......................................................................................................25
Table 21 Assessment of validity....................................................................................................25
Table 22 Test results (Southern blot as reference)...................................................................26
Table 23 Diagnostic characteristics (Southern blot as reference).........................................26
Table 24 Cost per case for diagnosis...........................................................................................33
Table 25 Total costs of diagnosis and family testing...............................................................35
Figures
Figure 1 Example of fragile XA Southern blot results.............................................................4