Gene

GAMT - Cerebral creatine deficiency syndrome 2

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

GAMT - Cerebral creatine deficiency syndrome 2



€ 725

GAMT - Cerebral creatine deficiency syndrome 2

This test is available for the following conditions:

  • Conditions > Metabolic disorders > Cerebral creatine deficiency syndrome

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: 601240
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

GATM - Cerebral creatine deficiency syndrome 3

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

GATM - Cerebral creatine deficiency syndrome 3



€ 725

GATM - Cerebral creatine deficiency syndrome 3

This test is available for the following conditions:

  • Conditions > Metabolic disorders > Cerebral creatine deficiency syndrome

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: 602360
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725