Parameter
Karyotyping, Whole-Genome Genotyping (WGG)
Reference standard
Internal method
Internal method identity
10997
11213
11517
11518
Parameter
Chromosome deviations, Whole-Genome Genotyping (WGG)
Reference standard
Internal method
Internal method identity
11321
11214
Comment
Fluorescense In Situ Hybridization with FISH-metaphase
Parameter
Lactose intolerance
Factor V Leiden
prothrombin
Hemochromatosis
DPYD (rs3918290, rs55886062,
rs67376798, rs56038477)
Reference standard
Internal method
Internal method identity
12833
Comment
Real-time PCR, melting point analysis
Parameter
Mutations in CFTR, associated with CF in European populations
Reference standard
Internal method
Internal method identity
11427
Comment
50 of the most common mutations
Multiplex PCR and gelelectroforesis (ARMS)
Parameter
Deletion of AZFa, AZFb and AZFc
Reference standard
Internal method
Internal method identity
11434
Comment
Y-del
Multiplex PCR
Reference standard
Internal method
Internal method identity
11158
Comment
PCR-based fragment analysis
Object
DNA from blood and oral mucosa
Parameter
Single base mutations, small, dup, part, ins in coded areas of the genome
Reference standard
Internal method
Internal method identity
13390
13997
11515
11771
Comment
Deep sequencing
Panel and exome
Object
DNA from blood and oral mucosa
Parameter
Single mutations and small, dup, del, ins in selected parts of the genome
Reference standard
Internal method
Internal method identity
11689
Comment
Sanger sequencing
Object
DNA from blood, tissue and oral mucosa
Parameter
Copy number variant (CNV) analysis/methylation analysis, Whole-Genome Genotyping (WGG)
Reference standard
Internal method
Internal method identity
11602
Object
DNA from blood, tissue, wrist
Parameter
Copy number variant (CNV) analysis, Whole-Genome Genotyping (WGG)
Reference standard
Internal method
Internal method identity
11483
11702