SERVICES - Table

 

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DIAGNOSTIC SERVICE

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DESCRIPTION
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APPLICATION
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TURNAROUND TIME

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COST *

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RESTRICTIONS

EXOME
SEQUENCING
DIAGNOSTICS **
- Sequencing of the exome
- Variant filtering according to one of the available gene panels
- Clinical interpretation of the data
- Full clinical interpretation of confirmed variants within a comprehensive report
- Risk of clinically relevant unsolicited findings
To identify a genetic cause of a genetic heterogeneous disorder  4 months  €1,500 for a single exome, €3,500 for trio analysis Does not detect deletions or duplications, repeat expansions and mutations in mitochondrial DNA
DIAGNOSTIC
INTERPRETATION
OF EXOME DATA ** 
- Variant filtering according to one of the available gene panels
- Clinical interpretation of the data
- Full clinical interpretation of confirmed variants within a comprehensive report
- Risk of clinically relevant unsolicited findings  
To identify a genetic cause of a genetic heterogeneous disorder  4-6 weeks  €500 Does not detect deletions or duplications, repeat expansions and mutations in mitochondrial DNA
MULTIPLE GENE
DIAGNOSTICS 
(GENE PANEL)
- (Sanger or targeted next generation) sequencing of several genes
- Full clinical interpretation of confirmed variants within a comprehensive report
Used when there are several genes that can cause similar symptoms  4-6 weeks Depends on the gene panel, prices range from €600 to €2,200 Does not detect deletions or duplications, additional MLPA testing may be available upon request
SINGLE GENE
DIAGNOSTICS
- (Sanger or targeted next generation) sequencing of the full coding region of a single gene with intron/exon boundaries
- Full clinical interpretation of confirmed variants within a comprehensive report
When a specific genetic disorder
is suspected
 4-6 weeks Prices are based on size of the gene, ranging from €500 to €2,300 Does not detect deletions or duplications,  additional MLPA testing is available upon request
CUSTOM GENE
DIAGNOSTICS
(For genes that are not listed on our website and clearly established to be causative
for a certain genetic disease)
- (Sanger or targeted next generation) sequencing of the full coding region of a
single gene with intron/exon boundaries
- Full clinical interpretation of confirmed variants within a comprehensive report 
When a specific genetic disorder
is suspected
 12 weeks Prices are based on size of the gene Does not detect deletions or duplications, additional MLPA testing could be developed
upon request
MUTATION
DIAGNOSTICS
(TESTING OF FAMILIAL MUTATION(S))
- Sequencing a specific part of a given gene
- Full clinical interpretation of mutations within a comprehensive report
- Carrier testing
- Presymptomatic testing
- Symptomatic testing
4 weeks  €350 per gene per individual Analysis is limited to the mutation(s) tested
MUTATION DIAGNOSTICS
(PRENATAL TESTING)
- Sequencing a specific part of a given gene
- Molecular testing of maternal cell contamination (MCC)
- Full clinical interpretation of mutations within a comprehensive report
Testing of familial mutation(s) in (unborn) fetus 2-3 weeks  800 Analysis is limited to the mutation(s) tested. We accept chorionic villi, amniotic fluid and fetal DNA.
Cell number expansion by culturing is possible (but increases the TAT).
Important; blood or isolated DNA of the mother needs to be provided to test for MCC.
ARRAY
DIAGNOSTICS
- CNV analysis, homozygosity mapping, segmental and whole chromosome
uniparental disomy
- Genome wide DNA array-based analysis with 2,696,550 copy number and SNP
markers distributed over the human genome
- Full clinical interpretation of array data within a comprehensive report
To identify causes of autism, developmental delay, intellectual disability, congenital anomalies and of structural ultrasound anomalies prenatally, homozygosity mapping 5 weeks  €950 Average genome wide practical resolution of approximately 20 kb
CHROMOSOME
DIAGNOSTICS
(FISH)
- Region specific chromosome analysis
- Clinical report
To determine the copy number and location of a specific chromosomal region per cell  2-5 weeks €750 Only information on the chromosome region studied

*Specific prices are available at our website. For large amounts of samples we can offer you a discount.
Please contact our account managers for a customised quote via info@genomediagnosticsnijmegen.nl

**For the interpretation of exome sequencing data, an in-house (bioinformatic) pipeline has been developed, which uses pre-defined gene panels. These gene panels contain all known disease-associated genes (1034 genes for example for the Intellectual disability package) and are used for variant filtering. The panels are updated on a monthly basis with new causative genes. The reporting of our tests will thus focus on known or predicted deleterious mutations in genes, known to be associated with the disorder the patient was referred for. If the gene panel analysis does not reveal the genetic cause of the disorder, opening the rest of the exome is offered as a second step.