Object
Cell free DNA from maternal blood
Parameter
Aneuploidies in chromosomes 13, 18, 21, X and Y
Reference standard
Internal method
Internal method identity
142390
Comment
VeriSeq NIPT Solution v2
Object
Cells from amniotic fluid, tissue or blood
Parameter
Karyotyping, the whole genome
Reference standard
Internal method
Internal method identity
82956
Comment
Karyo typing (G band)
Object
Cells from amniotic fluid, tissue or blood
Parameter
Chromosomal aberrations, in selected parts of the genome
Reference standard
Internal method
Internal method identity
84701
Comment
Karyo typing (Fluorescense In Situ Hybridization, FISH)
Parameter
Base substitutions and small duplications, deletions, insertions in mitrocondrial genome
Reference standard
Internal method
Internal method identity
140526
Comment
Sequencing, High throughput sequencing (HTS), mitochondrial genome. Does not apply to CNV calling.
Object
DNA from amniotic fluid, tissue, blood
Reference standard
Internal method
Internal method identity
117646
87724
145893
Comment
Fragment analysis (PCR, RP-PCR and AmplideX PCR/CE FMR1)
Object
DNA from amniotic fluid, tissue, blood
Parameter
Base substitutions and small duplications, deletions, insertions in selected parts of the genome
Reference standard
Internal method
Internal method identity
121110
Comment
Sequencing. High throughput sequencing (HTS), exome. Does not apply to CNV calling
Object
DNA extracted from amniotic fluid, tissue and blood
Parameter
Aneuploidies in chromosome 13, 18, 21, X and Y
Reference standard
Internal method
Internal method identity
56557
Comment
Fragment analysis (DNA based trisomy test)
Object
DNA extracted from amniotic fluid, tissue and blood
Parameter
Base substitutions and small dup, del, ins in selected parts of the genome
Reference standard
Internal method
Internal method identity
85926
86055
86349
Comment
Sequencing, Sanger
Object
DNA extracted from amniotic fluid, tissue and blood
Parameter
Copy number variants/ methylation analysis, in selected parts of the genome
Reference standard
Internal method
Internal method identity
83949
Comment
MLPA and methylation analysis MLPA
Object
DNA extracted from amniotic fluid, tissue and blood
Parameter
Copy number variants, whole genome
Reference standard
Internal method
Internal method identity
84542
Object
DNA from amniotic fluid, tissue, blood
Parameter
Deletion of AZFa, AZFb, AZFc, and sex chromosome aneuploidies
Reference standard
Internal method
Internal method identity
89118
111266
Comment
Fragment analysis (Y part Multiplex PCR)
Object
DNA from amniotic fluid, tissue, blood
Parameter
Base substitutions and small dublications, deletions, insertions in selected parts of the genome
Reference standard
Internal method
Internal method identity
88046
Comment
Fragment analysis CFTR
Object
DNA extracted from amniotic fluid, tissue and blood
Parameter
Base substitutions, small duplications, deletions and isertions, and copy number variation in selected parts of the genome
Reference standard
Internal method
Internal method identity
125389
133959
135292
140312
Comment
Sequencing. High throughput sequencing (HTS) cancer custom panel with CNV calling (Convading)
Object
DNA extracted from amniotic fluid, tissue and blood
Parameter
Base substitutions and small duplications, deletions and insertions, and copy number variation in selected parts of the genome
Reference standard
Internal method
Internal method identity
131886
141830
Comment
Sequencing. High throughput sequencing (HTS), genome