Panel

panel neurofibromatosis type 1 / legius syndrome (NF1, SPRED1) ¹

Turnaround time
8 weeks
Performing laboratory
Maastricht UMC+
€ 520

panel neurofibromatosis type 1 / legius syndrome (NF1, SPRED1) ¹



€ 520

panel neurofibromatosis type 1 / legius syndrome (NF1, SPRED1) ¹

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Legius syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Legius syndrome
  • Conditions > Skin > Neurofibromatosis
  • Conditions > Neurological > Neurofibromatosis
  • Conditions > Oncogenetics > Neurofibromatosis

Turnaround time
8 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA




€ 520
Gene

SPRED1 - Legius syndroom ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 368

SPRED1 - Legius syndroom ¹



€ 368

SPRED1 - Legius syndroom ¹

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Legius syndrome
  • Conditions > Multiple congenital anomalies (MCA) > Legius syndrome

This product is also part of the following panels:

  • panel neurofibromatosis type 1 / legius syndrome (NF1, SPRED1) ¹
  • WES hereditary cancer (98.1% **)
  • WES intellectual disability (98.1% **)
  • WES Mendelian inherited disorders (98.1% **)
  • WES Noonan syndrome / RASopathy (98.1% **)
  • WES short stature/skeletal dysplasia (98.1% **)
  • WES skin disorders¹ (98.1% **)

** % 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: 609291
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 368