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Clinical Chemistry 53: 1016-1022, 2007. First published April 19, 2007; 10.1373/clinchem.2006.083360
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(Clinical Chemistry. 2007;53:1016-1022.)
© 2007 American Association for Clinical Chemistry, Inc.

Molecular Diagnostics and Genetics

Utilization and Diagnostic Yield of Neurogenetic Testing at a Tertiary Care Facility

Kerstin L. Edlefsen1,2, Jonathan F. Tait1,2,3, Mark H. Wener1,3 and Michael Astion1,a

Departments of1 Laboratory Medicine, 2 Pathology, and 3 Medicine, University of Washington School of Medicine, Seattle, WA.

aAddress correspondence to this author at: University of Washington, Department of Laboratory Medicine, Box 357100, Seattle, WA 98195-7110. Fax 206-598-6189; e-mail mastion{at}u.washington.edu.

Background: Institutions face increasing charges related to molecular genetic testing for neurological diseases. The literature contains little information on the utilization and performance of these tests.

Methods: A retrospective utilization review was performed to determine the diagnostic yield of neurogenetic tests ordered during calendar year 2005 at a large academic medical center in the western United States.

Results: Overall, a relevant mutation was identified in 30.2% of the 162 patients tested and in 21.5% of the 121 probands, defined as patients for whom no mutation has been previously identified in a family member. Patients with muscle weakness (n = 65) had a mutation detected in 26.2% of all patients and 23.5% of probands (n = 51), with an estimated testing cost per positive result of $3190. Patients tested for neuropathy (n = 36) had a mutation detected in 27.8% of patients and 22.6% of probands (n = 31), with an estimated cost per positive result of $5955. Patients with chorea (n = 25) had a positive result obtained in 68% of patients and 71.4% of probands (n = 7); the estimated cost per positive test was $440. Other diagnostic categories evaluated include ataxias (n = 18; yield, 11.1%; $7620 per positive), familial stroke or dementia syndromes (n = 8; yield, 12.5%; $6760 per positive), and multisystem mitochondrial disorders (n = 10; yield, 20%; $6485 per positive).

Conclusions: Expert clinicians at a tertiary care center who ordered neurogenetic tests obtained a positive result in 21.5% of patients without previously identified familial mutations. These results can be used for comparison and to help establish utilization guidelines for neurogenetic testing.






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