Pcr/southern Blot For X Linked Bulbospinal Muscular Atrophy

From Anvita Health Wiki

Contents 1 Indications 2 Clinical-significance 3 Specimen 4 More General Terms 5 Additional Terms 6 References

Indications

• X-linked bulbospinal muscular atrophy

Clinical-significance

• expansion of trinucleotide repeat CAG in the 1st exon of the androgen receptor gene

Specimen

• whole blood ( ACD or EDTA)
• amniocytes
• chorionic villi
• store whole blood at 4 degrees C
• store cells at -20 degrees C or below if nucleic acids cannot be extracted immediately

More General Terms

• molecular diagnostic test

Additional Terms

• X-linked bulbospinal muscular atrophy (Kennedy's disease)

References

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

PCR/southern blot for X-linked bulbospinal muscular atrophy