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 The Molecular Genetics Laboratory is currently offering testing for the following disorders. Each test in the menu includes information on indications for testing, assay methodology, specimen requirements, transport and shipping instructions, and billing codes. All specimens submitted for analysis should be accompanied by the UCSD Medical Genetics Test Requisition Form.
> Angelman Syndrome
> Ashkenazi Jewish Screening Panel 1
> Ashkenazi Jewish Screening Panel 2
> BCR/ABL, t 9;22 (Qualitative)
> Bloom Syndrome
> Canavan Disease
> CFTR Intron 8 Poly (T) Variant
> Cystic Fibrosis
> Factor V Leiden Mutation (R506Q)
> Familial Dysautonomia
> Fanconi Anemia Group C
> Fragile X Syndrome
> Fragile X Associated Tremor/Ataxia Syndrome , Premature Ovarian Failure
> Gaucher Disease
> Glycogen Storage Disease Type 1A
> Huntington Disease
> JAK2 Mutation (V617F)
> MTHFR Variant (C677T)
> Mucolipidosis Type IV
> Niemann-Pick Disease
> Prader-Willi Syndrome
> Prothrombin-Factor II Gene Mutation (G20210A)
> RhD Genotyping (Fetal)
> Tay-Sachs Disease
> Tay-Sachs Disease (Biochemical Analysis)
> Thrombophilia Panel
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