Mutation Analysis Schedule II.docx

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Attached to
Mutation Analysis Laboratory Services Federal contract opportunity
Solicitation number
11-000872
Issued by
Department of Health and Human Services National Institutes of Health

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Schedule of tests II

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Mutation Analysis Schedule II Mutation Analysis Tests and Estimated Annual Volumes

TEST
VOLUME/YR
MERRF specific mutations (mitochondrial)
1
CMT evaluation (portions of complete panel)
2
HSP panel or SPG4, SPG3 if autosomal dominant
2
Ataxia panel (mostly the spinocerebellar ataxia genes) up to 40 different genes.
7
Spinocerebellar ataxia gene screen
1
BBS1
27
BBS 10
27
APOE (Apolipoprotein E)
100
SOD1
5
Sarcoglycans (4 types)
11
Dysferlin
2

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