Cystic fibrosis

Cystic fibrosis (CF) typically presents as a severe autosomal recessive disease that causes chronic obstructive lung disease and pancreatic enzyme insufficiency. CF can also present atypically, manifesting solely as congenital absence of the vas deferens or chronic idiopathic pancreatitis. If a clinical CF diagnosis is made or suspected, analysis of the CFTR gene may be used to confirm genetic diagnosis and make familial testing options available. Genetic confirmation can also support the selection of CFTR potentiator therapies, which may improve outcomes for patients affected by CF with at least one copy of a select subset of variants.

Key testing

• CFMP | Cystic Fibrosis, CFTR Gene, Variant Panel, Varies
  • Screens for more than 500 genetic variants in the CFTR gene, including the most common variants associated with cystic fibrosis (CF).
  • Able to detect CFTR deletions and duplications.
• CFTRN | Cystic Fibrosis Transmembrane Conductance Regulator, CFTR, Full Gene Analysis, Varies
  • Assists with diagnosis, prognosis, clinical management, recurrent risk assessment, familial screening, and genetic counseling for those with CF.
  • Identifies genetic variants in individuals with atypical presentation of cystic fibrosis and in individuals where detection rates by targeted variant analysis are low or unknown for their ancestral background.

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Panlobular emphysema

A deficiency of alpha-1-antitrypsin (A1A), which is a protein that helps protect against tissue degradation in the lungs, is associated with an increased risk for early-onset panlobular emphysema. Unlike smoking-related emphysema, which impacts the upper lung fields, panlobular emphysema initially affects the lung bases and causes symptoms in patients during their 30s and 40s. When serum A1A levels are identified as deficient and cannot be explained by routine testing, genetic testing can provide clarity.

Key testing

• A1ALC | Alpha-1-Antitrypsin Proteotype S/Z, LC-MS/MS, Serum
  • Assists in diagnosis, prognosis, and clinical management of individuals with panlobular emphysema. 
  • Includes A1AT protein quantitation, proteotyping for Z and S alleles and phenotyping by isoelectric focusing (IEF), if needed. 
  • May allow for predictive testing in family members.
• SERPZ | SERPINA1 Gene, Full Gene Analysis, Varies
  • Used when results of A1ALC are discordant (abnormal A1AT serum levels but proteotype is not consistent with diagnosis). 
  • Full gene sequencing of SERPINA1 can confirm diagnosis of alpha-1-antitrypsin deficiency by detecting rare non-S or non-Z variants.
  • May identify genetic variants to allow for predictive and diagnostic testing in family members.

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Primary ciliary dyskinesia

Primary ciliary dyskinesia (PCD) is a rare genetic condition that presents with symptoms often mistaken for common respiratory illnesses, making diagnosis challenging. Early identification of the disorder, which is characterized by defects in the form and/or function of the body’s cilia resulting in chronic otosinopulmonary disease and infertility in men,¹ is critical to delay or prevent damage to the lungs.

To provide the most accurate picture of a patient’s condition, we offer both electron microscopy evaluation (EM) and genetic testing to confirm a PCD diagnosis.

Key testing

• EM | Electron Microscopy, Varies
  • Provides information to aid in the diagnosis of PCD.
  • Results are provided by telephone and interpretive report.
• PCDGG | Primary Ciliary Dyskinesia Gene Panel, Varies
  • Detects single nucleotide and copy number variants in 40 genes associated with PCD.
  • Confirms clinical diagnosis of PCD; may identify genetic variants to allow for predictive and diagnostic testing in family members.

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References

1. Primary ciliary dyskinesia - About the Disease - Genetic and Rare Diseases Information Center (nih.gov)