Genetic Diseases and Tests Flashcards by Lu Chen

Q

Androgen insensitive syndrome

A

Southern blot

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Q

Sickle cell

A

Southern blot

Allele specific oligonucleotide (ASO) hybridization

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Q

Fragile x

A

Methylation testing

Southern blot???

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Q

Prader Willi and Angelman

A

Methylation testing

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Q

Huntington’s

A

PCR

Linkage analysis

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Q

BRCA1

A

Linkage analysis

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Q

Cystic fibrosis

A

Linkage analysis

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Q

Duchenne muscular dystrophy

A

Western blot

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Q

Becker muscular dystrophy

A

Western blot

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Q

Muscular dystrophy (deletion?)

A

PCR

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Q

Factor V Leiden mutation

A

Real time PCR

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Q

Chronic myelocytic leukemia

A

FISH

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Q

Follicular lymphoma

A

FISH

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Q

DiGeorge

A

FISH

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Q

Bladder cancer

A

UroVysion

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