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Test Directory

5401 Cystic Fibrosis (CF) Carrier Screening

Specimen Type
Specimen Stability
Reference Range
Whole Blood
8 Days 2 - 8° C
See Report

Specimen Requirements

Specimen Type: Whole Blood
Container: 1 Lavender Top Tube
Temperature: Refrigerated
Preferred Vol: 2.00 mL
Min Vol: 2.00 mL

Method

Polymerase Chain Reaction (PCR)

Schedule

Mon-Fri

Turn-Around Time

3-5 days

Instructions/Notes

Preferred amount: Full tube of Whole Blood

Clinical Utility

Carrier Study: • Assessment of carrier risk for an individual with a positive family history of CF • Assessment of carrier risk for an individual whose partner has a positive family history of CF • Assessment of carrier risk for an individual with a negative family history who is planning a pregnancy. Note: A negative mutation analysis is indicative of reduced carrier risk based upon the presence or absence of specific associated genetic mutations in the CF40 test, but does not exclude the possibility that the patient is a carrier. Diagnostic Study: • Screening for CF in a newborn with a positive immunoreactive trypsinogen test (IRT) • Diagnosis of CF in a symptomatic newborn • Identification of familial mutation in an affected patient • Identification of mutations in an infertile male with congenital bilateral absence of the vas deferens (CBAVD)

CPT Codes

81220, 83891, 83896, 83900, 83901, 83903, 83908, 83912

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