Genetic Testing

• The top visible table row continues text about direct-to-consumer genetic testing companies that analyze a number of specific variants in particular genes rather than finding all variants in those genes when providing health or disease-risk information.
• Single-gene testing is visible as a table entry immediately above the multigene-panel rows.
• Multigene Panels includes visible subentries for Off the shelf, Parkinson disease multigene panel, and Custom designed.
• The Off the shelf/multigene-panel row includes Coding regions, noncoding regions (promoter), simultaneous testing of two to more than 150 genes, and may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.
• The Parkinson disease multigene panel row visibly says it includes PRKN and other genes of interest. A Bruggemann note states that approximately equal numbers of PRKN disease-causing variants are detected by sequence analysis and deletion/duplication analysis, cites Kasten et al 2018/Table 1, and recommends considering a multigene panel that also includes deletion/duplication analysis. Exact citation punctuation and wording remain high-risk.
• A benefits/limitations area includes Reasonable cost and a warning about identifying variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype.
• The Custom designed row visibly notes that custom multigene panels cannot detect larger deletions or duplications within genes of interest and may not include ancillary assays needed for regions with highly homologous pseudogenes, deep intronic pathogenic variants, and expanded nucleotide repeats. Vendor/example text includes XomeDxSlice and ExomeNext-Select.
• Comprehensive Genomic Testing (=Next generation sequencing = high throughput sequencing) is visible, with rows for Clinical Exome Sequencing (=WES일걸) and Clinical genome sequencing (WGS이겠지).
• The exome/genome rows distinguish All exons and all coding and noncoding nuclear DNA; the genome row notes mitochondrial sequencing is often ordered as a separate laboratory test. Korean notes state that ordinary sequencing does not capture duplication/deletion well; exact Korean wording remains pending manual review.
• A small embedded comparison figure reads WGS is clearly superior compared to WES; its internal labels/values are not reliably readable from the full image and require manual review.
• Chromosomal microarray (CMA) is visible with a Korean note about detecting/catching duplication/deletion and English text that it is used to detect CNV and recommended as a first-line test for individuals with developmental delay, intellectual disability, multiple congenital anomalies, and/or autism spectrum disorder.
• gene set analysis (GSA) is visible with =enrichment analysis and a note about stronger statistical power than individual gene analysis.
• Sequence analysis (=sequencing) and deletion/duplication analysis are visible. Deletion/duplication analysis is also labeled as a synonym for copy number analysis.
• A sequence-analysis limitation states that exon or whole-gene deletions/duplications are not detected.
• The deletion/duplication-analysis row explains testing that identifies deletions/duplications not routinely detectable by sequence analysis of coding and flanking intronic regions of genomic DNA, with methods such as quantitative PCR, MLPA, and CMA that includes the gene/chromosome segment of interest.
• A right-side note cites (Choi, 2008 #1351) and MLPA assay text using commercially available probes, including SALSA P051 Parkinson MLPA kits, MRC Holland, Amsterdam, The Netherlands, probes against exons of SNCA, PARKIN, PINK1, and selected DJ-1 exons. Ratio thresholds such as 0.7-1.3, <0.7, and >1.3 are visible but remain high-risk exact values.
• Below the table, a bullet note begins bioneer: single gene testing vs whole genome vs whole exome vs multigene panel (park2, park7, snca etc), coverage, SNP & CNV and includes contact-like numbers. Contacts and exact casing/spacing must be manually verified before reuse.
• The coverage (=sequencing depth) note defines coverage/depth with Korean explanations and examples such as 8X, 30x WGS, a genome size of 10 Mbp, and 100 Mbp of sequencing data. Exact Korean text and numerical examples remain pending manual approval.
• The required coverage note distinguishes germline variants, generally heterozygous or homozygous and easier to detect at lower/uniform coverage, from somatic tumor variants, where tissue heterogeneity/intratumoral heterogeneity/tumor viability require much higher read depth.
• A lower recommended-coverage table is visible with rows for whole-genome sequencing, whole-exome sequencing, RNA sequencing, and ChIP-Seq. Visible coverage fragments include 30x to 50x for human WGS, 100x, an RNA-seq note about millions of reads and rarely expressed genes requiring increased depth, and 100x for ChIP-Seq; exact row labels and notes remain high-risk.
• The bottom contains a partial genetic testing laboratory table with vendor/service fragments such as Genewiz, https://www.genewiz.com/en/Public/Services/Next-Generation-Sequencing, Genome Insight, Scientst.com, RSA (Research Services Agreement), and partially visible method rows for Sanger sequencing, realtime PCR/TaqMan gene expression assays, and MLPA parkin gene dosage kits. This bottom table is clipped and should not be treated as fully transcribed.

Visible table blocks include:

block	visible structure
Genetic-testing method comparison	Dense multi-column table comparing single-gene testing, multigene panels, comprehensive genomic testing, CMA, GSA, sequence analysis, and deletion/duplication analysis
Parkinson multigene panel	Row/cell set with PRKN-related Bruggemann/Kasten note, cost/variant-interpretation notes, and panel limitations
Comprehensive genomic testing	WES/WGS rows, CNV/CMA notes, and a small WGS-vs-WES embedded figure
Sequencing coverage note	Bullet list defining coverage/sequencing depth and required coverage for germline versus somatic variants
Recommended coverage	Small table with sequencing method and recommended coverage columns
Genetic testing laboratory	Clipped lower table with vendor/service links and sequencing/gene-dosage method fragments

Exact values, contact numbers, URLs, row/column boundaries, citation keys, Korean notes, figure labels, and dense table text should be manually checked from the images before use as final KB text.

Uncertain Spans

• Dense table structure, merged cells, and column meanings are only summarized here; do not treat this page as a full table transcription.
• Contacts, URLs, vendor names, citation keys, kit names, gene symbols, exon lists, ratio thresholds, coverage values, and all Korean explanatory notes require manual image verification.
• The lower genetic testing laboratory table is clipped and likely continues across adjacent photos.
• The page appears to be part of a continuing Genotyping Methods > Genetic Testing section; compare adjacent photos for continuation or duplicate clearer evidence.