NL
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:
- WES congenital heartdisease ¹ (100.0% *)
- WES heart disorders¹ (100.0% *)
- WES hemostatic/thrombotic disorders (100.0% *)
- WES hereditary cancer (100.0% *)
- WES inherited bone marrow failure and/or predisposition to hematological malignancies (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES Noonan syndrome / RASopathy (100.0% *)
- WES short stature/skeletal dysplasia (100.0% *)
- WES skin disorders¹ (100.0% *)
* % 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
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:
- WES congenital heartdisease ¹ (100.0% *)
- WES heart disorders¹ (100.0% *)
- WES hemostatic/thrombotic disorders (100.0% *)
- WES hereditary cancer (100.0% *)
- WES inherited bone marrow failure and/or predisposition to hematological malignancies (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES metabolic disorders (100.0% *)
- WES Noonan syndrome / RASopathy (100.0% *)
- WES short stature/skeletal dysplasia (100.0% *)
- WES skin disorders¹ (100.0% *)
* % 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
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:
- WES congenital heartdisease ¹ (100.0% *)
- WES heart disorders¹ (100.0% *)
- WES hemostatic/thrombotic disorders (100.0% *)
- WES hereditary cancer (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES Noonan syndrome / RASopathy (100.0% *)
- WES short stature/skeletal dysplasia (100.0% *)
- WES skin disorders¹ (100.0% *)
* % 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
