X-linked bulbospinal muscular atrophy genotyping

Indications: - X-linked bulbospinal muscular atrophy Specimen: 1) whole blood (ACD or EDTA) 2) amniocytes 3) chorionic villi 4) store whole blood at 4 degrees C 5) store cells at -20 degrees C or below if nucleic acids cannot be extracted immediately Clinical significance: - expansion of trinucleotide repeat CAG in the 1st exon of the androgen receptor gene

References

Clinical Guide to Laboratory Tests, 3rd ed. Teitz ed., W.B. Saunders, 1995