Cerebral creatine deficiency syndrome

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:

• Comprehensive preconception carrier test panel¹
• Intellectual disability panel
• Mendelian inherited disorders panel
• Metabolic disorders panel
• Mitochondrial disorders panel
• Muscle disorders panel

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

---