johns hopkins cf portal patient

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Cystic fibrosis (CF) is an inherited life-threatening disease that affects many organs. It causes changes in the electrolyte transport system causing cells to absorb too much sodium and water. CF is characterized by problems with the glands that make sweat and mucus. Symptoms start in childhood. On average, people with CF live into their mid to ...

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Classic Cystic Fibrosis (CF) consists of progressive lung disease, exocrine pancreatic insufficiency, and male infertility. Patients have elevated sweat chloride concentrations. Patients sometimes termed 'non-classic' still meet diagnostic criteria for CF, but may have lower sweat chloride levels or may be pancreatic sufficient.

What is the pathophysiology of classic cystic fibrosis (CF)?

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What are the key points about cystic fibrosis?

Classic Cystic Fibrosis (CF) consists of progressive lung disease, exocrine pancreatic insufficiency, and male infertility. Patients have elevated sweat chloride concentrations. Patients sometimes termed 'non-classic' still meet diagnostic criteria for CF, but may have lower sweat chloride levels or may be pancreatic sufficient.

Syndrome Information

Classic Cystic Fibrosis (CF) consists of progressive lung disease, exocrine pancreatic insufficiency, and male infertility. Patients have elevated sweat chloride concentrations. Patients sometimes termed 'non-classic' still meet diagnostic criteria for CF, but may have lower sweat chloride levels or may be pancreatic sufficient.

Test Information

Next Generation Sequencing (NGS) of the coding regions and intron-exon boundaries of CFTR; Deletion/Duplication: Dosage analysis by normalization of NGS read depth for CFTR; Sanger sequencing for potential fill in / confirmation

Special Considerations

CFTR sequencing is most appropriate in the diagnostic setting when the patient has an atypical or non-classic presentation or when other mutation panels have failed to identify both causative mutations. CFTR sequencing is not recommended in the carrier screening setting.

What percentage of cystic fibrosis is caused by point mutations?

Approximately 98% of classic cystic fibrosis is caused by point mutations in the CFTR gene. This sequence analysis will detect >99% of those point mutations. This analysis will not detect other types of mutations in the CFTR gene. It is estimated that about 2% of CFTR mutations are large rearrangements, including deletions and duplications. This test will detect full gene deletions and most previously reported multi- and single exon deletions and duplications, but not translocations or rearrangements limited to an intron.

What is next generation sequencing?

Next Generation Sequencing (NGS) of the coding regions and intron-exon boundaries of the listed genes; Deletion/Duplication: Dosage analysis by normalization of NGS read depth for the listed genes; Sanger sequencing for potential fill in / confirmation