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.
for all blood relatives of patients who undergo full single gene sequencing, multigene panel testing or exome sequencing at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. No-cost testing of blood relatives must be completed within 90 days of the original report date. Whenever possible, more closely related relatives should be tested before more distant relatives.
Order Now| 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 |
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. Potentially homozygous variants, variants in regions complicated by pseudogene interference, and variant calls not satisfying depth of coverage and variant allele frequency quality thresholds are verified by Sanger sequencing. 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. Potentially homozygous variants, variants in regions complicated by pseudogene interference, and variant calls not satisfying depth of coverage and variant allele frequency quality thresholds are verified by Sanger sequencing. 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.