Gene

AP4B1 - autosomal recessive spastic paraplegia type 47

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 402

AP4B1 - autosomal recessive spastic paraplegia type 47



€ 402

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




€ 402
Gene

AP4M1 - autosomal recessive spastic paraplegia type 50

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 385

AP4M1 - autosomal recessive spastic paraplegia type 50



€ 385

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




€ 385
Gene

AP5Z1 (KIAA0415) - autosomal recessive spastic papaplegia type 48

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 426

AP5Z1 (KIAA0415) - autosomal recessive spastic papaplegia type 48



€ 426

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




€ 426
Gene

C12ORF65 - autosomal recessive spastic paraplegia type 55

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 336

C12ORF65 - autosomal recessive spastic paraplegia type 55



€ 336

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




€ 336
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
€ 360

CYP2U1 - autosomal recessive spastic paraplegia



€ 360

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




€ 360
Gene

CYP7B1 - autosomal recessive spastic paraplegia type 5A

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 369

CYP7B1 - autosomal recessive spastic paraplegia type 5A



€ 369

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




€ 369
Gene

DDHD1 - autosomal recessive spastic paraplegia type 28

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 443

DDHD1 - autosomal recessive spastic paraplegia type 28



€ 443

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




€ 443
Gene

DDHD2 - autosomal recessive spastic paraplegia type 54

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 435

DDHD2 - autosomal recessive spastic paraplegia type 54



€ 435

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




€ 435
Gene

FA2H - autosomal recessive spastic paraplegia type 35

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 369

FA2H - autosomal recessive spastic paraplegia type 35



€ 369

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




€ 369
Gene

GBA2 - autosomal recessive spastic paraplegia type 46

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 468

GBA2 - autosomal recessive spastic paraplegia type 46



€ 468

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




€ 468
Gene

GJC2 - autosomal recessive spastic paraplegia type 44

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 352

GJC2 - autosomal recessive spastic paraplegia type 44



€ 352

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




€ 352
Gene

KIF1A - autosomal recessive spastic paraplegia type 30

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 715

KIF1A - autosomal recessive spastic paraplegia type 30



€ 715

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




€ 715
Gene

MARS2 - autosomal recessive spastic ataxia type 3

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 369

MARS2 - autosomal recessive spastic ataxia type 3



€ 369

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




€ 369
Gene

PNPLA6 - autosomal recessive spastic paraplegia type 39

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 501

PNPLA6 - autosomal recessive spastic paraplegia type 39



€ 501

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




€ 501
Gene

SPG11 - autosomal recessive spastic paraplegia type 11

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 649

SPG11 - autosomal recessive spastic paraplegia type 11



€ 649

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




€ 649
Gene

SPG20 - autosomal recessive spastic paraplegia type 20

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 377

SPG20 - autosomal recessive spastic paraplegia type 20



€ 377

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




€ 377
Gene

SPG21 - mast syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 386

SPG21 - mast syndrome



€ 386

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




€ 386
Gene

SPG7 - autosomal recessive spastic paraplegia type 7

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 451

SPG7 - autosomal recessive spastic paraplegia type 7



€ 451

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




€ 451
Gene

ZFYVE26 - autosomal recessive spastic paraplegia type 15

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 657

ZFYVE26 - autosomal recessive spastic paraplegia type 15



€ 657

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




€ 657
MLPA

SPG11 - autosomal recessive spastic paraplegia type 11 (MLPA)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 400

SPG11 - autosomal recessive spastic paraplegia type 11 (MLPA)



€ 400

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




€ 400
MLPA

SPG7 - autosomal recessive spastic paraplegia type 7 (MLPA)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 400

SPG7 - autosomal recessive spastic paraplegia type 7 (MLPA)



€ 400

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




€ 400