Whole Genome Sequencing

Target group: Patients with symptoms or individuals with family history.

Test Description: Genome sequencing is the most advanced genetic testing technology with more than 99% genome-wide coverage. Highly uniform and nearly complete coverage of the nuclear genome (> 20,000 genes) and complete mitochondrial genome (37 genes)

Test Coverage:

• > 97 % of the genome covered at ≥ 10x
• Detection of SNVs, InDels, SVs, including small CNVs up to cytogenomic-level changes, and mtDNA with heteroplasmy ≥ 15 %

Sensitivity: - SNVs and InDels (≤ 5 0 bp) 99.9 %,  CNVs > 95 %

Specificity:  > 99.9 % is guaranteed for all reported variants

Additional coverage:

• UPD detection for the well-known clinically relevant chromosomal regions: 6q24, 7, 11p15.5, 14q32, 15q11q13, 20q13, and 20
• Repeat expansion detection in 23 well-known genes associates with neurological diseases: AR, ATN1, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8OS, ATXN10, CACNA1A, CNBP, CSTB, C9orf72, DMPK, FMR1, FXN, HTT, JPH3, NOP56, PABPN1, PHOX2B, PPP2R2B, PRNP and TBP

Optional reports on secondary findings (unrelated symptoms)

• Medically actionable variants based on the American College of Medical Genetics and Genomics (ACMG) guidelines available for all tested individuals
• Carriership Findings (carrier screening status identified)

Sample required : Saliva swabs, blood in EDTA, dried blood spots

Reporting time: 25 working days

Laboratory: Germany