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:
- WES hearing impairment (including GJB2) (% *)
- WES heart disorders¹ (% *)
- WES hypertrophic cardiomyopathy ¹ (% *)
- WES Mendelian inherited disorders (% *)
- WES metabolic disorders (% *)
- WES neurological pain disorders¹ (% *)
- WES neuropathies¹ (% *)
- WES painful peripheral neuropathies¹ (% *)
- WES renal disorders (% *)
- WES skin disorders¹ (% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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:
- WES heart disorders¹ (% *)
- WES Mendelian inherited disorders (% *)
- WES neurological pain disorders¹ (% *)
- WES neuropathies¹ (% *)
- WES painful peripheral neuropathies¹ (% *)
- WES skin disorders¹ (% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Whole exome sequencing (WES)
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:
- WES Mendelian inherited disorders (% *)
- WES movement disorders (% *)
- WES neurological pain disorders¹ (% *)
- WES neuropathies¹ (% *)
- WES painful peripheral neuropathies¹ (% *)
- WES painless peripheral neuropathies¹ (% *)
- WES skin disorders¹ (% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Whole exome sequencing (WES)
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:
- panel Arrhythmia targeting (13 genes) - LQT, SQT, BrS, CPVT, SSS ¹
- WES comprehensive preconception carrier test ¹
- WES epilepsy (% *)
- WES heart disorders¹ (% *)
- WES intellectual disability (% *)
- WES Mendelian inherited disorders (% *)
- WES neurological pain disorders¹ (% *)
- WES painful peripheral neuropathies¹ (% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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
SCN2B - 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:
- WES heart disorders¹ (% *)
- WES Mendelian inherited disorders (% *)
- WES neurological pain disorders¹ (% *)
- WES painful peripheral neuropathies¹ (% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
601327
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:
- WES epilepsy (% *)
- WES intellectual disability (% *)
- WES Mendelian inherited disorders (% *)
- WES neurological pain disorders¹ (% *)
- WES painful peripheral neuropathies¹ (% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Whole exome sequencing (WES)
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:
- panel Arrhythmia targeting (13 genes) - LQT, SQT, BrS, CPVT, SSS ¹
- WES heart disorders¹ (% *)
- WES Mendelian inherited disorders (% *)
- WES neurological pain disorders¹ (% *)
- WES painful peripheral neuropathies¹ (% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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:
- WES heart disorders¹ (% *)
- WES Mendelian inherited disorders (% *)
- WES neurological pain disorders¹ (% *)
- WES painful peripheral neuropathies¹ (% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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:
- WES Mendelian inherited disorders (% *)
- WES neurological pain disorders¹ (% *)
- WES painful peripheral neuropathies¹ (% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Whole exome sequencing (WES)
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:
- WES epilepsy (% *)
- WES intellectual disability (% *)
- WES Mendelian inherited disorders (% *)
- WES movement disorders (% *)
- WES neurological pain disorders¹ (% *)
- WES painful peripheral neuropathies¹ (% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Whole exome sequencing (WES)
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:
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (% *)
- WES neurological pain disorders¹ (% *)
- WES neuropathies¹ (% *)
- WES painful peripheral neuropathies¹ (% *)
- WES painless peripheral neuropathies¹ (% *)
- WES skin disorders¹ (% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Whole exome sequencing (WES)
OMIM:
603415
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane