Cystic fibrosis

Cystic fibrosis (CF) is an autosomal recessive disorder characterized by pulmonary disease, pancreatic insufficiency, elevated sweat chloride levels, and male infertility. CF affects approximately 30,000 children and adults in the US, and approximately 10 million Americans are CF carriers. Ambry Genetics is committed to caregivers and patients in the CF community through diagnostic testing, research, education, and support for advocacy groups.

Quick Reference
Test Code: 1002 Test Name: 508FIRST reflex seq & del/dup TAT 5-13 days Gene: 1
Test Code: 1007 Test Name: CFTR seq and del/dup TAT 5-13 days Gene: 1

Ordering Options

We now offer single site analysis (SSA) at no additional cost to family members

following single gene or panel testing* of the first family member (proband) within 90 days of the original Ambry report date.

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*excludes Exome and SNP Array tests

When To Consider Testing

  • Confirm a diagnosis of CF in individuals with a known or suspected diagnosis based on symptoms 
  • Carrier screening for those at increased risk to be a carrier based on ethnicity, specific symptoms, family history, and/or for partners of individuals that are CF carriers (for reproductive/prenatal genetic testing purposes) 
  • Confirm a diagnosis in pregnancies identified to be at increased risk for CF (e.g. echogenic bowel, other indicators)

Carrier Risk and Detection Rates:

Ethnic Group A Priori Carrier Risk   Estimated Detection Rate** Residual Risk to be a Carrier***
Sequencing Sequencing & Del/Dup Sequencing Sequencing & Del/Dup
Ashkenazi Jewish 1/24 97-98% ~ 99% ~ 1/959 ~ 1/2301
Non-Hispanic Caucasian 1/25 97-98% ~ 99% ~ 1/1001 ~ 1/2401
Hispanic American* 1/58 97-98% ~ 99% ~ 1/2376 ~ 1/5701
African American 1/61 97-98% ~ 99% ~ 1/2501 ~ 1/6001
Asian American 1/94 97-98% ~ 99% ~ 1/3876 ~ 1/9301
  • * This is a pooled set of data and requires additional information to predict risk accurately for specific Hispanic populations.
  • ** Based on Ambry’s empirical data.
  • *** Based on a negative family history.
  •  
  • Clinical sensitivity for CF genetic screening depends on the test ordered and the ethnic background of the patient.  Gene sequencing and deletion/duplication anaylisis can detect mutations in 99% of people with a clinical diagnosis of CF (clinical sensitivity).  Ambry's cystic fibrosis testing can detect >99.9% of described mutations in the CFTR gene, when present (analytic sensitivity).

Test Description

508First reflex seq and del/dup:  Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using standardized methodology and quantified. Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by bait-capture methodology using long biotinylated oligonucleotide probes, and is followed by polymerase chain reaction (PCR) and Next-Generation sequencing. Additional Sanger sequencing is performed for any regions missing or with insufficient read depth coverage for reliable heterozygous variant detection. Reportable small insertions and deletions, potentially homozygous variants, variants in regions complicated by pseudogene interference, and single nucleotide variant calls not satisfying 100x depth of coverage and 40% het ratio thresholds are verified by Sanger sequencing.1 The p.F508del mutation is analyzed first, and if reflex testing is indicated, whole-gene CFTR sequencing analysis will be completed and followed by gross deletion/duplication analysis performed using a custom pipeline based on read-depth from NGS data and/or targeted chromosomal microarray with confirmatory MLPA when applicable. For blood spot samples, Sanger sequencing is used to detect sequence variants. This test targets detection of DNA sequence mutations in all coding domains, and well into the 5’ and 3’ ends of all the introns and untranslated regions.

CFTR seq and del/dup:  Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using standardized methodology and quantified. Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by a bait-capture methodology using long biotinylated oligonucleotide probes, and is followed by polymerase chain reaction (PCR) and Next-Generation sequencing. Additional Sanger sequencing is performed for any regions missing or with insufficient read depth coverage for reliable heterozygous variant detection. Reportable small insertions and deletions, potentially homozygous variants, variants in regions complicated by pseudogene interference, and single nucleotide variant calls not satisfying 100x depth of coverage and 40% het ratio thresholds are verified by Sanger sequencing.1 Gross deletion/duplication analysis is performed using a custom pipeline based on read-depth from NGS data and/or targeted chromosomal microarray with confirmatory MLPA when applicable. For blood spot samples, Sanger sequencing is used to detect sequence variants. This test targets detection of DNA sequence mutations in all coding domains, and well into the 5’ and 3’ ends of all the introns and untranslated regions.

  1. Mu W, et al. Sanger confirmation is required to achieve optimal sensitivity and specificity in next-generation sequencing panel testing. J Mol Diagn. 2016. 18(6):923-932.
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