Sorted By Test Name - Mayo Medical Laboratories

CFTRM
88876
Interpretation: The report is an estimate of the nature of the abnormality using the Bethesda
nomenclature. Specimen adequacy is characterized as: -Satisfactory for evaluation (with quality indicators
if applicable) or -Unsatisfactory for evaluation, further subdivided as follows: -Specimen processed and
examined but unsatisfactory for evaluation of epithelial abnormality because of inadequate cellularity,
obscuring blood or inflammation, etc. -Specimen rejected because of a broken slide, unlabeled specimen,
etc. The diagnostic interpretation may include: -Negative for intraepithelial lesion or malignancy (NIL)
-Atypical squamous cells of undetermined significance (ASCUS) characterized further as either: -Atypical
squamous cells of undetermined significance or -Atypical squamous cells, cannot exclude high grade
intraepithelial lesion -Low grade squamous intraepithelial lesion (LSIL), which includes mild squamous
dysplasia (cervical intraepithelial neoplasia I [CINI]) and koilocytotic changes consistent with HPV
effect. -High grade squamous intraepithelial lesion (HSIL), which includes moderate squamous dysplasia
(CINII), severe squamous dysplasia (CINIII), and squamous carcinoma in situ (CINIII) -Atypical
Glandular Cells Patients with this diagnosis are at increased risk for a clinically significant lesion
including adenocarcinoma in situ, high-grade squamous intraepithelial lesion, invasive cervical
carcinoma, or endometrial carcinoma and should have appropriate clinical follow up that may include
gynecologic examination, colposcopy, or biopsy. The correlation from cytology to subsequent histologic
examination is imprecise.
Reference Values:
Satisfactory for evaluation, within normal limits.
Note: Abnormal results will be reviewed by a physician at an additional charge.
Clinical References: 1. Wright TC Jr, Cox JT, Massad LS, et al: ASCCP-Sponsored Consensus
Conference. 2001 Consensus Guidelines for the management of women with cervical cytological
abnormalities. JAMA 2002 April;287(16):2120-9 2. Solomon D, Davey D, Kurman R, et al: The 2001
Bethesda System: terminology for reporting results of cervical cytology-Consensus Statement. JAMA
2002 April;287(16):2114-9
CFTR Gene, Full Gene Analysis
Clinical Information: Cystic fibrosis (CF), in the classic form, is a severe autosomal recessive
disorder characterized by a varied degree of chronic obstructive lung disease and pancreatic enzyme
insufficiency. Clinical diagnosis is generally made based on these features, combined with a positive
sweat chloride test or positive nasal potential difference. CF can also have an atypical presentation and
may manifest as congenital bilateral absence of the vas deferens (CBAVD), chronic idiopathic
pancreatitis, bronchiectasis, or chronic rhinosinusitis. Several states have implemented newborn screening
for CF, which identifies potentially affected individuals by measuring immunoreactive trypsinogen in a
dried blood specimen collected on filter paper. If a clinical diagnosis of CF has been made, molecular
testing for common CF mutations is available. To date, over 1,500 mutations have been described within
the CF gene, named cystic fibrosis transmembrane conductance regulator (CFTR). The most common
mutation, deltaF508, accounts for approximately 67% of the mutations worldwide and approximately
70% to 75% in the North American Caucasian population. Most of the remaining mutations are rather
rare, although some show a relatively higher prevalence in certain ethnic groups or in some atypical
presentations of CF, such as isolated CBAVD. The recommended approach for confirming a CF diagnosis
or detecting carrier status begins with molecular tests for the common CF mutations (eg, CFPB/9497
Cystic Fibrosis Mutation Analysis, 106-Mutation Panel). This test, CFTR Gene, Full Gene Analysis may
be ordered if 1 or both disease-causing mutations are not detected by the targeted mutation analysis
(CFPB/9497). Full gene analysis, sequencing and dosage analysis of the CFTR gene, is utilized to detect
private mutations. Together, full gene analysis of the CFTR gene and deletion/duplication analysis
identify over 98% of the sequence variants in the coding region and splice junctions. Of note, CFTR
potentiator therapies may improve clinical outcomes for patients with a clinical diagnosis of CF and at
least 1 copy of the G551D mutation. See Cystic Fibrosis Molecular Diagnostic Testing Algorithm in
Special Instructions for additional information.
Useful For: Follow-up testing to identify mutations in individuals with a clinical diagnosis of cystic
fibrosis (CF) and a negative targeted mutation analysis for the common mutations Identification of
mutations in individuals with atypical presentations of CF (eg, congenital bilateral absence of the vas
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