The Ambry Primer
Spring 2009
Winter 2008

Cystic Fibrosis
A guanine to thymidine substitution, located 1643 nucleotides into intron 11 of the CFTR gene (1811+1643G>T), could represent a novel splicing mutation, found exclusively in CF patients of Hispanic descent.
2009 North American Cystic Fibrosis Conference

Impact of IVS8-(TG)m(T)n haplotype on IRT and sweat chloride levels in a cohort of hypertrypsinogenemic newborns with genotype ΔF508/5T identified by California CF Newborn Screening.
2009 North American Cystic Fibrosis Conference

The role of the F508C mutation in congenital bilateral absence of the vas deferens.
Genet Med. 2008:10:910–914. Please call us for reprint.

Clinical features of three children with novel CFTR mutations.
2008 North American Cystic Fibrosis Conference

Characterization of a recurrent novel large duplication in the cystic fibrosis transmembrane conductance regulator gene.
J Mol Diagn. 2007;9:556-560. Please call us for reprint.

Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens – Implications for newborn screening.
Genet Med. 2006;8:557-562. Please call us for reprint.

CFTR genotypes in late diagnosed versus very early diagnosed CF patients.
2006 North American Cystic Fibrosis Conference

Homozygous CFTR mild mutations detected in CF patients diagnosed at an earlier age.
2006 Annual Meeting of the Association for Molecular Pathology

Identification of a novel combination of cystic fibrosis mutations in an asymptomatic woman following prenatal risk assessment.
2006 Annual Meeting of the American College of Medical Genetics

Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: Novel mutations
J Mol Diag. 2005;7:289-299

A case study illustrating the benefits of full sequence analysis for diagnosing CF.
2005 Annual Meeting of the American College of Medical Genetics

100% CFTR mutation detection in a group of patients affected with CF using The Ambry Test®: CF AMPLIFIED.
2005 North American Cystic Fibrosis Conference

Improved detection of cystic fibrosis mutations in infertility patients with DNA sequence analysis.
Hum Reprod. 2004;19:540-546

Pulmonary Disease
Paternal uniparental disomy as a mechanism for inherited surfactant deficiency.
2008 Annual Meeting of the American Society of Human Genetics

A pyrosequencing assay for the genetic diagnosis of Primary Ciliary Dyskinesia, the Ambry Panel: PCD 61™
2008 Annual Meeting of the American Thoracic Society

Clinical Genetics
Mutation detection in Glutaric Acidemia Type I by full gene sequence analysis.
2008 Annual Meeting of the American College of Medical Genetics

Expanding the options for Canavan Disease testing in non-Jewish populations: Full gene analysis of ASPA.
2006 Annual Meeting of the National Society of Genetic Counselors

Closing the gap in non-Ashkenazi Jewish Tay-Sachs detection: Full gene sequence analysis of HEXA.
2006 Annual Meeting of the National Society of Genetic Counselors

Pancreatitis
Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis.
Pancreas. 2006;33(3):221-227. Please call us for reprint.

Methods
Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens – Implications for newborn screening.
Genet Med. 2006;8:557-562. Please call us for reprint.

Comprehensive gene sequence analysis from bloodspot and saliva DNA.
2005 Annual Meeting of the Association for Molecular Pathology