Pcr/southern Blot For Fragile X Syndrome

From Anvita Health Wiki

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

Indications

• fragile X syndrome

Clinical-significance

• most common mutation is a CGG trinucleotide repeat expansion 5' to the FMR-1 coding sequence

Specimen

• whole blood ( ACD or EDTA)
• amniocytes
• store at 4 degrees C if nucleic acids cannot be extracted immediately

More General Terms

• molecular diagnostic test

Additional Terms

• FMR-1 gene
• fragile X syndrome

References

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

PCR/southern blot for Fragile X syndrome