Cystic Fibrosis Celera 32 Variant Assay


Test Name

Cystic Fibrosis Celera 32 Variant Assay

Test Code

M CF

Associations

Cystic fibrosis carrier and diagnostic

CPT Codes

81220

Turnaround Time

7-10 days

Specimen Requirements

5.0 mL (min. 3.0 mL) whole blood EDTA preferred, ACD accepted

Storage & Handling

Ship blood specimen at ambient temperature. If shipment is delayed, store blood at 2–8°C and ship with a cool/refrigerated pack.(Do not allow the sample to be in direct contact with the cool pack.)

Causes for Rejections

Insufficient DNA material; Frozen; Clotted; Severely hemolyzed whole blood specimen

Description

CF diagnosis and carrier status

References

  1. Grody WW. (2009). Cystic fibrosis testing comes of age. J Mol Diagn. 11:173-175.
  2. American College of Medical Genetics (2006). Technical standards and guidelines for CFTR mutation testing.
  3. Watson MS et al. (2004). Cystic fibrosis carrier screening: 2004 revision of the American College of Medical Genetics mutation panel. Genet Med. 6:387-391.

*PCR is performed under license agreement with Hoffman-LaRoche, Inc.

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    EMAIL

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