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Zpráva o onemocněních · Respiratory

Cystic Fibrosis

Whole genome sequencing identifies all known CFTR variants enabling carrier screening, reproductive planning, and access to precision CFTR modulator therapies.

Zpráva o onemocněních hledá vzácné varianty, o nichž je známo, že způsobují onemocnění, na něž se zpráva zaměřuje.

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O tomto condition

This is a report looking into the genetic causes of Cystic Fibrosis in a patient sample. The report presents drug associations and disease-modulating variants.

Cystic fibrosis (CF) is an autosomal recessive multisystem disorder affecting the lungs, pancreas, liver, reproductive tract, and sweat glands. Prevalence is approximately 1 in 2,500-3,500 in Caucasian populations; carrier frequency is approximately 1 in 25 Caucasians. Disease is caused by biallelic pathogenic variants in CFTR, which encodes cystic fibrosis transmembrane conductance regulator, a chloride channel critical for proper fluid and electrolyte balance in epithelial tissues. More than 2,000 CFTR variants have been identified. F508del (deletion of phenylalanine 508) is by far the most common, accounting for approximately 70% of CF alleles worldwide and present in approximately 90% of CF patients (either heterozygous or homozygous). Clinically, CF presents with progressive lung disease (recurrent infections, bronchiectasis), pancreatic insufficiency (malabsorption, diabetes), and salt loss. Median life expectancy has extended from infancy in the 1980s to approximately 50 years today, primarily due to aggressive pulmonary management and increasingly due to CFTR modulator therapies, which have transformed CF from a fatal childhood disease into a manageable chronic condition.

CFTR encodes a 1,480-amino acid cAMP-regulated chloride channel localized to apical membranes of epithelial cells. Variants are classified by mechanism: Class I (nonsense, frameshift, canonical splice site) produce no protein; Class II (processing defects including F508del) cause misfolding and ER degradation; Class III (defective channel gating) impair opening; Class IV (reduced conductance) allow partial chloride flow; Class V (reduced amount) produce low levels of functional protein. F508del is a Class II variant causing misfolding and premature degradation. The CFTR protein is absolutely critical for chloride secretion; loss of function leads to dehydrated, viscous secretions in airways and ducts, causing obstruction, infection, and inflammation. Three CFTR modulator drugs are now approved and have transformed outcomes: ivacaftor activates gating mutations; lumacaftor/ivacaftor corrects F508del misfolding; elexacaftor/tezacaftor/ivacaftor extends to approximately 90% of CF patients.

CFTR genotyping is critical for CF diagnosis and increasingly for therapy selection. Ivacaftor (Kalydeco) activates specific gating mutations (G551D, G1244E, and others) and benefits approximately 4 to 6% of CF patients. Lumacaftor/ivacaftor (Orkambi) targets F508del homozygous patients (approximately 15% of CF), producing approximately 6-point FEV1 improvement. Elexacaftor/tezacaftor/ivacaftor (Trikafta), approved for CF patients with at least one F508del copy, extends eligibility to approximately 90% of CF patients; Trikafta produces approximately 10-point FEV1 improvement and has dramatically changed the CF landscape; mortality appears to be declining since approval. CFTR genotype directly determines which modulator(s) a patient can access, making genetic testing essential for therapy guidance and enabling individualized treatment selection.

Onemocnění, které analyzujeme

Autozomálně recesivní

Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.

Co se diagnózou změní

CFTR modulator therapies (ivacaftor, lumacaftor, elexacaftor, tezacaftor), airway clearance, pancreatic enzyme replacement, antibiotic therapy, nutritional management

Analyzované geny

Známé také jako

CF; cystic fibrosis lung disease, modifier of; fibrocystic disease of the pancreas; mucoviscidosis; pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis

Zahrnuje 1 příbuzný podtyp ↓
  • cystic fibrosis-gastritis-megaloblastic anemia syndrome
MONDO:0009061OMIM 219700Orphanet 586MedGen 41393

Proč sekvenování celého genomu

Standard CF panels test 23-32 common variants. They miss rare mutations and have poor sensitivity in non-European ancestry populations.

Standard panels miss rare CFTR variants and have ancestry gaps

Standard CF carrier screening panels test 23-32 common variants (ACMG-23 expanded panel, for example). This strategy captures approximately 88% of carriers in Caucasians but only approximately 64% in Hispanic, approximately 49% in African American, and approximately 30% in Asian populations, a major health equity gap. Expanded panels including 100+ variants improve detection but still miss rare variants. Current standard panels do not assess modifier genes (such as TGFB1, MBL2) that influence disease severity. Whole genome sequencing captures all CFTR variants including novel ones, providing definitive carrier status assessment for all populations and enabling comprehensive genetic risk evaluation.

CFTR genotype determines access to life-changing modulator therapy

Three CFTR modulator drugs are now approved: ivacaftor for specific gating mutations (G551D, G1244E, etc.), lumacaftor/ivacaftor for F508del homozygotes, and elexacaftor/tezacaftor/ivacaftor for patients with at least one F508del copy. Trikafta is approved for approximately 90% of CF patients and has reduced mortality since approval, producing approximately 10-point FEV1 improvement. CFTR genotype directly determines which modulator a patient can access. Documented in the medical record and communicated to the patient, the genotype enables informed discussion of therapy options, treatment expectations, and prognosis, preventing delayed diagnosis and enabling early intervention that can preserve lung function and dramatically improve outcomes.

Další respiratory conditions

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Jeden test. Odpovědi na celý život.

Jedna souprava, zaslaná domů. Celý váš genom je sekvenován na klinickém standardu používaném pro diagnostická rozhodnutí. Zprávy připravené pro lékaře doručíme do vašeho Genome Manageru během 6–8 týdnů — trvale platné a průběžně aktualizované s vývojem vědy.

Od 449 $

Doprava zdarma · Výsledky za 6–8 týdnů

Objednejte si Genome Test