Carrier Screening - Comprehensive Panel (145 Genes)
- GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000607972.1
- Last updated: 2023-08-15
- Test version history
- 607972.1, last updated: 2023-08-15
Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Cystic fibrosis
Offered by Genesys Diagnostics
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Carrier Screening - Comprehensive Panel (145 Genes)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation, Risk Assessment, Screening
Click Indication tab for more information.
Not provided
Specimen source
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- Molecular Genetics
- DDeletion/duplication analysis
- Multiplex Ligation-dependent Probe Amplification (MLPA)PCR
- IMicrosatellite instability testing (MSI)
- Trinucleotide repeat by PCR or Southern Blot
- XMutation scanning of select exons
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
- TTargeted variant analysis
- PCR
Reproductive decision-making
- Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). - PubMed ID: 34285390
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Not provided
- Wainwright et al., 2015Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR.
- Accurso et al., 2010Effect of VX-770 in Persons with Cystic Fibrosis and the G551D-CFTR Mutation
- DailyMed Drug Label, 2022DailyMed Drug Label, KALYDECO- ivacaftor tablet, 2022
- ACMG ACT, 2012American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated IRT +/- DNA, Cystic Fibrosis, 2012
- ACMG ACT, 2012American College of Medical Genetics and Genomics Carrier Screening ACT Sheet, CFTR Mutations except R117H, Cystic Fibrosis (CF), 2012
- ACMG ACT, 2012American College of Medical Genetics and Genomics Carrier Screening ACT Sheet, Cystic Fibrosis R117H, 2012
- ACMG ACT, 2012American College of Medical Genetics and Genomics Carrier Screening ACT Sheet, No Mutations Detected by Carrier Screening, Cystic Fibrosis (CF), 2012
- ACMG ACT, 2011American College of Medical Genetics ACT Sheet, Carrier Screening ACT Sheet Ashkenazi Jewish Genetic Disorders
- ACMG Algorithm, 2006American College of Medical Genetics and Genomics, Algorithm, Immunoreactive Trypsinogen (IRT Elevated), 2006
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