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




€ 541

Gene

POLR3A - hypomyelinating leukodystrophy type 7

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 541

POLR3A - hypomyelinating leukodystrophy type 7



€ 541
Gene

TUBB4A - hypomyelinating leukodystrophy type 6

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 344

TUBB4A - hypomyelinating leukodystrophy type 6



€ 344

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




€ 344