NF1 - neurofibromatosis type 1 ¹

This test is available for the following conditions:

  • Conditions > Skin > Neurofibromatosis
  • Conditions > Neurological > Neurofibromatosis
  • Conditions > Oncogenetics > Neurofibromatosis

This product is also part of the following panels:

  • panel neurofibromatosis type 1 / legius syndrome (NF1, SPRED1) ¹
  • WES congenital heartdisease ¹ (% *)
  • WES heart disorders¹ (% *)
  • WES hereditary cancer (% *)
  • WES inherited bone marrow failure and/or predisposition to hematological malignancies (% *)
  • WES intellectual disability (% *)
  • WES Mendelian inherited disorders (% *)
  • WES Noonan syndrome / RASopathy (% *)
  • WES short stature/skeletal dysplasia (% *)
  • WES skin disorders¹ (% *)

* % 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: 613113
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 509

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

NF1 - neurofibromatosis type 1 ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 509

NF1 - neurofibromatosis type 1 ¹



€ 509
Gene

NF2 - neurofibromatosis type 2

Turnaround time
3 weeks
Performing laboratory
Radboudumc
€ 451

NF2 - neurofibromatosis type 2



€ 451

NF2 - neurofibromatosis type 2

This test is available for the following conditions:

  • Conditions > Skin > Neurofibromatosis
  • Conditions > Neurological > Neurofibromatosis
  • Conditions > Oncogenetics > Neurofibromatosis

This product is also part of the following panels:

  • WES hereditary cancer (% *)
  • WES Mendelian inherited disorders (% *)
  • WES movement disorders (% *)

* % 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
3 weeks

Method

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

OMIM: 607379
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, FFPE, Isolated DNA, Buccal mucous membrane




€ 451