NL
POLR3A - hypomyelinating leukodystrophy type 7
This test is available for the following conditions:
- Conditions > Neurological > Hypomyelinating leukodystrophy
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Disorders/differences of sex development (DSD) / Primary adrenal insufficiency panel
- Hypogonadotropic hypogonadism (Kallmann) panel
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
- Movement disorders panel
- Short stature/skeletal dysplasia panel with genome wide CNV analysis
- Skin disorders panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
607694
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
TUBB4A - hypomyelinating leukodystrophy type 6
This test is available for the following conditions:
- Conditions > Neurological > Hypomyelinating leukodystrophy
This product is also part of the following panels:
- Epilepsy panel
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Movement 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:
602662
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
