Gene

BRAF - LEOPARD syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 460

BRAF - LEOPARD syndrome



€ 460

BRAF - LEOPARD syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > LEOPARD syndrome
  • Conditions > Multiple congenital anomalies (MCA) > LEOPARD syndrome
  • Conditions > Hearing impairment > LEOPARD syndrome
  • Conditions > Skeletal > LEOPARD syndrome

This product is also part of the following panels:

  • Congenital heartdisease panel¹
  • Heart disorders panel¹
  • Hemostatic/thrombotic disorders panel
  • Hereditary cancer panel
  • Inherited bone marrow failure and/or predisposition panel to hematological malignancies
  • Intellectual disability panel
  • Lymphatic anomalies panel
  • Mendelian inherited disorders panel
  • Noonan syndrome / RASopathy panel
  • Short stature/skeletal dysplasia panel
  • 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: 164757
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 460
Gene

PTPN11 - LEOPARD syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 435

PTPN11 - LEOPARD syndrome



€ 435

PTPN11 - LEOPARD syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > LEOPARD syndrome
  • Conditions > Multiple congenital anomalies (MCA) > LEOPARD syndrome
  • Conditions > Hearing impairment > LEOPARD syndrome
  • Conditions > Skeletal > LEOPARD syndrome

This product is also part of the following panels:

  • Congenital heartdisease panel¹
  • Heart disorders panel¹
  • Hemostatic/thrombotic disorders panel
  • Hereditary cancer panel
  • Hypertrophic cardiomyopathy panel¹
  • Inherited bone marrow failure and/or predisposition panel to hematological malignancies
  • Intellectual disability panel
  • Lymphatic anomalies panel
  • Mendelian inherited disorders panel
  • Metabolic disorders panel
  • Noonan syndrome / RASopathy panel
  • Short stature/skeletal dysplasia panel
  • 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: 151100
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 435
Gene

RAF1 - LEOPARD syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 452

RAF1 - LEOPARD syndrome



€ 452

RAF1 - LEOPARD syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > LEOPARD syndrome
  • Conditions > Multiple congenital anomalies (MCA) > LEOPARD syndrome
  • Conditions > Hearing impairment > LEOPARD syndrome
  • Conditions > Skeletal > LEOPARD syndrome

This product is also part of the following panels:

  • Congenital heartdisease panel¹
  • Heart disorders panel¹
  • Hemostatic/thrombotic disorders panel
  • Hereditary cancer panel
  • Hypertrophic cardiomyopathy panel¹
  • Intellectual disability panel
  • Lymphatic anomalies panel
  • Mendelian inherited disorders panel
  • Noonan syndrome / RASopathy panel
  • Short stature/skeletal dysplasia panel
  • 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: 611554
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 452