Whole Exome Sequencing

Atypical or complex findings that may represent a new or rare syndrome
A suspected genetic disorder where previous testing has been uninformative
Medical answers 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.

• Standard, high quality, service turnaround time is 6 weeks
• Prenatal, express service turnaround time is 3 weeks
• Timing estimates do not include time required for physician appointments, requisitions, consent signatures, sample collection, or courier/shipping times (samples are analyzed in Germany)

• 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.

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

Sample WES reports

Sample Report WES Solo Positive

Sample Report WES Solo Negative

Sample Report WES trio Positive index

Sample Report WES trio Positive parent1

Sample Report WES trio Positive parent2