Gene

AP4B1 - autosomal recessive spastic paraplegia type 47

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 654

AP4B1 - autosomal recessive spastic paraplegia type 47



€ 654

AP4B1 - autosomal recessive spastic paraplegia type 47

This test is available for the following conditions:

  • Conditions > Neurological > Spastic paraplegia, autosomal recessive

This product is also part of the following panels:

** % 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: 607245
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 654
Gene

AP4M1 - autosomal recessive spastic paraplegia type 50

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 632

AP4M1 - autosomal recessive spastic paraplegia type 50



€ 632

AP4M1 - autosomal recessive spastic paraplegia type 50

This test is available for the following conditions:

  • Conditions > Neurological > Spastic paraplegia, autosomal recessive

This product is also part of the following panels:

** % 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: 602296
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 632
Gene

AP5Z1 (KIAA0415) - autosomal recessive spastic papaplegia type 48

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 688

AP5Z1 (KIAA0415) - autosomal recessive spastic papaplegia type 48



€ 688

AP5Z1 (KIAA0415) - autosomal recessive spastic papaplegia type 48

This test is available for the following conditions:

  • Conditions > Neurological > Spastic paraplegia, autosomal recessive

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 613653
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 688
Gene

C12ORF65 - autosomal recessive spastic paraplegia type 55

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 563

C12ORF65 - autosomal recessive spastic paraplegia type 55



€ 563

C12ORF65 - autosomal recessive spastic paraplegia type 55

This test is available for the following conditions:

  • Conditions > Neurological > Spastic paraplegia, autosomal recessive

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 613541
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 563
Gene

C19ORF12 - Spastic paraplegia- autosomal recessive

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

C19ORF12 - Spastic paraplegia- autosomal recessive



€ 725

C19ORF12 - Spastic paraplegia- autosomal recessive

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Spastic paraplegia, autosomal recessive
  • Conditions > Neurological > Spastic paraplegia, autosomal recessive

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 614297
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

CYP2U1 - autosomal recessive spastic paraplegia

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 598

CYP2U1 - autosomal recessive spastic paraplegia



€ 598

CYP2U1 - autosomal recessive spastic paraplegia

This test is available for the following conditions:

  • Conditions > Neurological > Spastic paraplegia, autosomal recessive

This product is also part of the following panels:

** % 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: 610670
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 598
Gene

CYP7B1 - autosomal recessive spastic paraplegia type 5A

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 609

CYP7B1 - autosomal recessive spastic paraplegia type 5A



€ 609

CYP7B1 - autosomal recessive spastic paraplegia type 5A

This test is available for the following conditions:

  • Conditions > Neurological > Spastic paraplegia, autosomal recessive

This product is also part of the following panels:

** % 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: 603711
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 609
Gene

DDHD1 - autosomal recessive spastic paraplegia type 28

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 710

DDHD1 - autosomal recessive spastic paraplegia type 28



€ 710

DDHD1 - autosomal recessive spastic paraplegia type 28

This test is available for the following conditions:

  • Conditions > Neurological > Spastic paraplegia, autosomal recessive

This product is also part of the following panels:

** % 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: 614603
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 710
Gene

DDHD2 - autosomal recessive spastic paraplegia type 54

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 699

DDHD2 - autosomal recessive spastic paraplegia type 54



€ 699

DDHD2 - autosomal recessive spastic paraplegia type 54

This test is available for the following conditions:

  • Conditions > Neurological > Spastic paraplegia, autosomal recessive

This product is also part of the following panels:

** % 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: 615003
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 699
Gene

FA2H - autosomal recessive spastic paraplegia type 35

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 609

FA2H - autosomal recessive spastic paraplegia type 35



€ 609

FA2H - autosomal recessive spastic paraplegia type 35

This test is available for the following conditions:

  • Conditions > Neurological > Spastic paraplegia, autosomal recessive

This product is also part of the following panels:

** % 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: 611026
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 609
Gene

GBA2 - autosomal recessive spastic paraplegia type 46

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 744

GBA2 - autosomal recessive spastic paraplegia type 46



€ 744

GBA2 - autosomal recessive spastic paraplegia type 46

This test is available for the following conditions:

  • Conditions > Neurological > Spastic paraplegia, autosomal recessive

This product is also part of the following panels:

** % 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: 609471
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 744
Gene

GJC2 - autosomal recessive spastic paraplegia type 44

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 587

GJC2 - autosomal recessive spastic paraplegia type 44



€ 587

GJC2 - autosomal recessive spastic paraplegia type 44

This test is available for the following conditions:

  • Conditions > Neurological > Spastic paraplegia, autosomal recessive

This product is also part of the following panels:

** % 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: 608803
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 587
Gene

KIF1A - autosomal recessive spastic paraplegia type 30

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 1081

KIF1A - autosomal recessive spastic paraplegia type 30



€ 1081

KIF1A - autosomal recessive spastic paraplegia type 30

This test is available for the following conditions:

  • Conditions > Neurological > Spastic paraplegia, autosomal recessive

This product is also part of the following panels:

** % 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: 601255
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 1081
Gene

MARS2 - autosomal recessive spastic ataxia type 3

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 609

MARS2 - autosomal recessive spastic ataxia type 3



€ 609

MARS2 - autosomal recessive spastic ataxia type 3

This test is available for the following conditions:

  • Conditions > Neurological > Spastic paraplegia, autosomal recessive

This product is also part of the following panels:

** % 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

  • Deletion/duplication analysis (MLPA)
Remarks
Only deletion/duplication analysis with the use of an MLPA will be performed.

OMIM: 609728
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 609
Gene

PNPLA6 - autosomal recessive spastic paraplegia type 39

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 789

PNPLA6 - autosomal recessive spastic paraplegia type 39



€ 789

PNPLA6 - autosomal recessive spastic paraplegia type 39

This test is available for the following conditions:

  • Conditions > Neurological > Spastic paraplegia, autosomal recessive

This product is also part of the following panels:

** % 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: 603197
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 789
Gene

SPG11 - autosomal recessive spastic paraplegia type 11

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 991

SPG11 - autosomal recessive spastic paraplegia type 11



€ 991

SPG11 - autosomal recessive spastic paraplegia type 11

This test is available for the following conditions:

  • Conditions > Neurological > Spastic paraplegia, autosomal recessive

This product is often ordered in combination with:

This product is also part of the following panels:

** % 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
Remarks
Deletions are rare. Only if one mutation (by sequencing) is found a deletion/duplication (MLPA) analysis will be performed.

OMIM: 610844
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 991
Gene

SPG20 - autosomal recessive spastic paraplegia type 20

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 621

SPG20 - autosomal recessive spastic paraplegia type 20



€ 621

SPG20 - autosomal recessive spastic paraplegia type 20

This test is available for the following conditions:

  • Conditions > Neurological > Spastic paraplegia, autosomal recessive

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 607111
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 621
Gene

SPG21 - mast syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 632

SPG21 - mast syndrome



€ 632

SPG21 - mast syndrome

This test is available for the following conditions:

  • Conditions > Neurological > Spastic paraplegia, autosomal recessive

This product is also part of the following panels:

** % 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: 608181
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 632
Gene

SPG7 - autosomal recessive spastic paraplegia type 7

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 722

SPG7 - autosomal recessive spastic paraplegia type 7



€ 722

SPG7 - autosomal recessive spastic paraplegia type 7

This test is available for the following conditions:

  • Conditions > Neurological > Spastic paraplegia, autosomal recessive

This product is often ordered in combination with:

This product is also part of the following panels:

** % 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
Remarks
Deletions are rare. Only if one mutation (by sequencing) is found a deletion/duplication (MLPA) analysis can be performed. For details see individual MLPA test.

OMIM: 602783
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 722
Gene

ZFYVE26 - autosomal recessive spastic paraplegia type 15

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 1002

ZFYVE26 - autosomal recessive spastic paraplegia type 15



€ 1002

ZFYVE26 - autosomal recessive spastic paraplegia type 15

This test is available for the following conditions:

  • Conditions > Neurological > Spastic paraplegia, autosomal recessive

This product is also part of the following panels:

** % 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: 612012
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 1002
MLPA

SPG11 - autosomal recessive spastic paraplegia type 11 (MLPA)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 609

SPG11 - autosomal recessive spastic paraplegia type 11 (MLPA)



€ 609

SPG11 - autosomal recessive spastic paraplegia type 11 (MLPA)

This test is available for the following conditions:

  • Conditions > Neurological > Spastic paraplegia, autosomal recessive

This product is often ordered in combination with:

This product is also part of the following panels:

** % 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

  • Deletion/duplication analysis (MLPA)

OMIM: 610844
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 609
MLPA

SPG7 - autosomal recessive spastic paraplegia type 7 (MLPA)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 609

SPG7 - autosomal recessive spastic paraplegia type 7 (MLPA)



€ 609

SPG7 - autosomal recessive spastic paraplegia type 7 (MLPA)

This test is available for the following conditions:

  • Conditions > Neurological > Spastic paraplegia, autosomal recessive

This product is often ordered in combination with:

This product is also part of the following panels:

** % 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

  • Deletion/duplication analysis (MLPA)

OMIM: 602783
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 609