Pcr/southern Blot For Cystic Fibrosis

From Anvita Health Wiki

Contents 1 Introduction 2 Indications 3 Specimen 4 Notes 5 More General Terms 6 Additional Terms 7 References

Introduction

• also see sweat chloride

Indications

• cystic fibrosis

Specimen

• whole blood ( ACD or EDTA)
• nasal scrapings
• tissue
• store whole blood at room temperature or 4 degrees C
• store tissue frozen at -20 degrees C if nucleic acid cannot be immediately extracted

Notes

• Common mutations can be used to detect 75-80% of alleles
• Rare mutations associated with:

• unusual ethnic background
• unusual clinical phenotype

More General Terms

• molecular diagnostic test

Additional Terms

• cystic fibrosis (CF, mucoviscidosis)

References

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

PCR/southern blot for cystic fibrosis