Genetic testing for Sorsby’s fundus dystrophy

A mouse model for Sorsby fundus dystrophy.

PURPOSE Sorsby fundus dystrophy (SFD) is a rare, late-onset macular dystrophy caused by mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) gene. The known mutations introduce potentially unpaired cysteine residues in the C terminus of the protein and result in the formation of higher-molecular-weight protein complexes of as yet unknown composition and functional consequences in t...

What is Sorsby's fundus dystrophy?

Genetic Testing for Duchenne and Becker Muscular Dystrophy

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Genetic Testing for Duchenne and Becker Muscular Dystrophy

Genetic testing for DMD gene mutations may be considered MEDICALLY NECESSARY under the following conditions:  In a male with signs and symptoms of a dystrophinopathy in order to confirm the diagnosis and direct treatment.  For at-risk female relatives: o To confirm or exclude the need for cardiac surveillance o For preconception testing to determine the likelihood of an affected offspring in ...

Genetic Testing for Duchenne and Becker Muscular Dystrophy

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