Most relevant in cases with heterogeneous or atypical phenotypes, whole-exome sequencing (WES) combines next-generation sequencing methods with powerful bioinformatics to identify and interpret changes in the protein-coding regions, or exons, of most genes in a single test. WES increases the chances of diagnosing complex genetic disorders and getting to the root cause of disease, faster.
Who Is This For?
Atypical or complex findings that may represent a new or rare syndrome
A suspected genetic disorder where the previous testing has been uninformative. Medical answers are likely available only by sequencing the whole exome. Heterogeneous phenotypes, such conditions as:
- Epilepsy
- Neurodevelopmental disorders
- Bone diseases
- Metabolic disorders
- Cardiomyopathy
- Complex dysmorphism
- Severe Combined Immunodeficiency (SCID)
- Immunological disorders
- Dementia
- Metabolic disorders
- Autism
- Blindness
This test does not identify your ancestry. It is not recommended as a wellness screen, nor as a test to determine conditions for which you or your offspring may be susceptible to.
TIMING:
- Standard, high quality, service turnaround time is 6 weeks
- Prenatal, express service turnaround time is 3 weeks
- Timing estimates do not include the time required for physician appointments, requisitions, consent signatures, sample collection, or courier/shipping times (samples are analyzed in Germany)
TEST SPECIFICS:
- The test can be ordered for the proband only (singleton) or with parental and/or other family members (trio)
- Utilizes the Twist Core Exome Plus kit (~36.5mb)
- >98% of targeted bases covered at >20x (>99.5% of the CCDS regions), including +/-20bp exon-intron boundaries
- >99.6% technical sensitivity and >99.8 technical specificity
- CNV analyses by NGS included
- Mitochondrial analyses available as add-ons
- Raw data (.fastq, .bam, or .vcf file formats) and research report available
- Opt-out option available for incidental findings
- Incidental findings are only reported in the proband
Reports are sent to physicians only. LifeLabs Genetics will not share results directly with patients. The ordering physician will receive an email when results become available. Results are never shared via email; results will be made available on the CENTOGENE portal for viewing and downloading.
REPORTS & RESULTS:
Results documentation includes the following:
- Test type, date, methodology, result, and interpretation
- Positive result: Indicates a genetic variant was identified in a specific gene and that variant is pathogenic or likely pathogenic (highly likely to be causal of the disease-related condition).
- Uncertain result: Sometimes, gene variants are proven but their significance is not clear. This is stated in the results and discussed with you by your physician. This category of variant is not reported for fetal samples or samples from deceased persons.
- Negative result: If no disease-causing variant is found, genetic changes responsible for the disease or a tendency to have a disease may still exist and cannot usually be fully excluded.
- Opt-out option available for incidental findings
- Incidental findings are only reported in the proband
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