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

** % 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: 611554
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 722

Products Conditions Hearing impairment LEOPARD syndrome
Gene

BRAF - LEOPARD syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 733

BRAF - LEOPARD syndrome



€ 733

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

** % 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: 164757
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 733
Gene

PTPN11 - LEOPARD syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 699

PTPN11 - LEOPARD syndrome



€ 699

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

** % 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: 151100
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 699
Gene

RAF1 - LEOPARD syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 722

RAF1 - LEOPARD syndrome



€ 722