BLM - Bloom syndrome

This test is available for the following conditions:

  • Conditions > Immunological, hereditary > Bloom syndrome
  • Conditions > Oncogenetics > Bloom syndrome

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Hereditary cancer panel
  • Inherited bone marrow failure and/or predisposition panel to hematological malignancies
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Primary immunodeficiencies 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
Remarks
SCE analysis is possible, although not necessary. For this analysis fresh heparin blood is required.

OMIM: 210900
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane



€ 509
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Gene

BLM - Bloom syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 509
View Add

BLM - Bloom syndrome


€ 509
Add