NL
GLA - Small fiber neuropathy ¹
This test is available for the following conditions:
- Conditions > Neurological > Painful neuropathy
This product is also part of the following panels:
- Hearing impairment panel (including GJB2)
- Heart disorders panel¹
- Hypertrophic cardiomyopathy panel¹
- Lymphatic anomalies panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
- Neurological pain disorders panel¹
- Polyneuropathies panel¹
- Renal disorders panel
- Skin disorders panel¹
- Small fibre neuropathy panel¹
Turnaround time
4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
300644
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SCN10A - Small fiber neuropathy ¹
This test is available for the following conditions:
- Conditions > Neurological > Painful neuropathy
This product is also part of the following panels:
- Heart disorders panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- Neurological pain disorders panel¹
- Polyneuropathies panel¹
- Skin disorders panel¹
- Small fibre neuropathy panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Exome analysis (WES or WGS data)
OMIM:
604427
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SCN11A - Small fiber neuropathy ¹
This test is available for the following conditions:
- Conditions > Neurological > Painful neuropathy
This product is also part of the following panels:
- Mendelian inherited disorders panel with genome wide CNV analysis
- Movement disorders panel
- Neurological pain disorders panel¹
- Polyneuropathies panel¹
- Skin disorders panel¹
- Small fibre neuropathy panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Exome analysis (WES or WGS data)
OMIM:
604385
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SCN1B - Small fiber neuropathy ¹
This test is available for the following conditions:
- Conditions > Neurological > Painful neuropathy
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Epilepsy panel
- Heart disorders panel¹
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Neurological pain disorders panel¹
- Small fibre neuropathy panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
600235
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SCN3A -Small fiber neuropathy ¹
This test is available for the following conditions:
- Conditions > Neurological > Painful neuropathy
This product is also part of the following panels:
- Epilepsy panel
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Neurological pain disorders panel¹
- Small fibre neuropathy panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Exome analysis (WES or WGS data)
OMIM:
182391
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SCN3B - Small fiber neuropathy ¹
This test is available for the following conditions:
- Conditions > Neurological > Painful neuropathy
This product is also part of the following panels:
- Heart disorders panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- Neurological pain disorders panel¹
- Small fibre neuropathy panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
608214
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SCN4B - Small fiber neuropathy ¹
This test is available for the following conditions:
- Conditions > Neurological > Painful neuropathy
This product is also part of the following panels:
- Heart disorders panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- Neurological pain disorders panel¹
- Small fibre neuropathy panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
608256
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SCN7A - Small fiber neuropathy ¹
This test is available for the following conditions:
- Conditions > Neurological > Painful neuropathy
This product is also part of the following panels:
- Mendelian inherited disorders panel with genome wide CNV analysis
- Neurological pain disorders panel¹
- Small fibre neuropathy panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Exome analysis (WES or WGS data)
OMIM:
182392
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SCN8A - Small fiber neuropathy ¹
This test is available for the following conditions:
- Conditions > Neurological > Painful neuropathy
This product is also part of the following panels:
- Epilepsy panel
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Movement disorders panel
- Neurological pain disorders panel¹
- Small fibre neuropathy panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Exome analysis (WES or WGS data)
OMIM:
600702
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SCN9A - Small fiber neuropathy ¹
This test is available for the following conditions:
- Conditions > Neurological > Painful neuropathy
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- Neurological pain disorders panel¹
- Polyneuropathies panel¹
- Skin disorders panel¹
- Small fibre neuropathy panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Exome analysis (WES or WGS data)
OMIM:
603415
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
