The entire coding sequences (exons plus 15 bp upstream and 15 bp downstream of each coding exon) of the targeted genes are captured, sequenced using NGS and aligned to the human reference genome. A minimum NGS coverage of 20X for all coding exons is achieved. Variants in the targeted regions that are of potential clinical significance, based on the ACMGG guidelines for interpretation of sequence variants (Richards et al. Genet Med 17(5):405-524, 2015), will be reported. All reported variants of potential clinical significance will be confirmed by a different technology or platform.
Analysis for the presence of sequence variants in the FBN1 gene (MIM:134797) in patients with a phenotype consistent with acromicric dysplasia (MIM:102370), familial ectopia lentis (MIM:129600), geleophysic dysplasia 2 (MIM:614185), Marfan lipodystrophy syndrome (MIM:616914), Marfan syndrome (MIM:154700), MASS syndrome (MIM:604308), stiff skin syndrome (MIM:184900), and dominant Weill-Marchesani syndrome 2 (MIM:608328)
Interpretive report provided.
This assay will not detect large deletions and duplications in the FBN1 gene or deep intronic variants outside the region sequenced in the FBN1 gene.
Collect specimen in a lavender top tube. Send intact specimen within 24 hours if stored at room temperature or within 5 days if stored refrigerated. Include the patient's family history, pedigree, and ethnicity on the test requisition. Obtaining informed consent from the patient prior to genetic testing is strongly recommended. If desired, a UMHS Request and Consent for Genetic Testing form can be obtained from the MMGL Molecular Genetics Laboratory by contacting the MLabs Client Services Center at 800-862-7284 or online at https://mlabs.umich.edu/sites/default/files/2020-01/file/pci-mmgl_infor….
By ordering this test the clinician acknowledges that informed consent has been obtained from the patient as required by applicable state or federal laws and the ordering clinician has authorization from the patient permitting MLabs to report the test results to the ordering clinician. Test includes medical geneticist interpretation of results billed as a separate additional charge. This test is not available without interpretation.