NL
panel hereditary paragangliomas (SDHA, SDHB, SDHC, SDHD, SDHAF2)
This test is available for the following conditions:
- Conditions > Hearing impairment > Paraganglioma and pheochromocytoma, Hereditary
- Conditions > Endocrine > Paraganglioma and pheochromocytoma, Hereditary
- Conditions > Renal / Nephrological > Paraganglioma and pheochromocytoma, Hereditary
- Conditions > Oncogenetics > Paraganglioma and pheochromocytoma, Hereditary
Turnaround time
3 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- Deletion/duplication analysis (MLPA)
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, FFPE, Isolated DNA
MAX - hereditary paraganglioma and feochromocytoma
This test is available for the following conditions:
- Conditions > Hearing impairment > Paraganglioma and pheochromocytoma, Hereditary
- Conditions > Endocrine > Paraganglioma and pheochromocytoma, Hereditary
- Conditions > Renal / Nephrological > Paraganglioma and pheochromocytoma, Hereditary
- Conditions > Oncogenetics > Paraganglioma and pheochromocytoma, Hereditary
This product is also part of the following panels:
- Hereditary cancer panel
- Intellectual disability / developmental delay panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
Turnaround time
Complete analysis & Targeted analysis: 3 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- Deletion/duplication analysis (MLPA)
MLPA analysis only upon request.
OMIM:
154950
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, FFPE, Isolated DNA
MDH2 - hereditary paraganglioma and feochromocytoma
This test is available for the following conditions:
- Conditions > Hearing impairment > Paraganglioma and pheochromocytoma, Hereditary
- Conditions > Endocrine > Paraganglioma and pheochromocytoma, Hereditary
- Conditions > Renal / Nephrological > Paraganglioma and pheochromocytoma, Hereditary
- Conditions > Oncogenetics > Paraganglioma and pheochromocytoma, Hereditary
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Epilepsy panel
- Hereditary cancer panel
- Intellectual disability / developmental delay panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Mitochondrial disorders panel
Turnaround time
Complete analysis & Targeted analysis: 3 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
154100
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, FFPE, Isolated DNA
RET - paraganglioma / pheochromocytoma (MEN2)
This test is available for the following conditions:
- Conditions > Hearing impairment > Paraganglioma and pheochromocytoma, Hereditary
- Conditions > Endocrine > Paraganglioma and pheochromocytoma, Hereditary
- Conditions > Renal / Nephrological > Paraganglioma and pheochromocytoma, Hereditary
- Conditions > Oncogenetics > Paraganglioma and pheochromocytoma, Hereditary
This product is also part of the following panels:
- Hereditary cancer panel
- Mendelian inherited disorders panel with genome wide CNV analysis
Turnaround time
Complete analysis & Targeted analysis: 3 weeks
Method
- Sequence analysis of selected exons and flanking intron-exon boundaries
Analysis of exons 10, 11, 13-16 only. With this test all known mutations are detected and explain 98% of the MEN2 patients.
OMIM:
164761
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, FFPE, Isolated DNA
SDHA - hereditary paraganglioma and pheochromocytoma
This test is available for the following conditions:
- Conditions > Hearing impairment > Paraganglioma and pheochromocytoma, Hereditary
- Conditions > Endocrine > Paraganglioma and pheochromocytoma, Hereditary
- Conditions > Renal / Nephrological > Paraganglioma and pheochromocytoma, Hereditary
- Conditions > Oncogenetics > Paraganglioma and pheochromocytoma, Hereditary
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Heart disorders panel¹
- Hereditary cancer panel
- Intellectual disability / developmental delay panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Mitochondrial disorders panel
- panel hereditary paragangliomas (SDHA, SDHB, SDHC, SDHD, SDHAF2)
- panel hereditary renalcancer
Turnaround time
3 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
600857
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, FFPE, Isolated DNA
SDHAF2 - hereditary paraganglioma and pheochromocytoma
This test is available for the following conditions:
- Conditions > Hearing impairment > Paraganglioma and pheochromocytoma, Hereditary
- Conditions > Endocrine > Paraganglioma and pheochromocytoma, Hereditary
- Conditions > Renal / Nephrological > Paraganglioma and pheochromocytoma, Hereditary
- Conditions > Oncogenetics > Paraganglioma and pheochromocytoma, Hereditary
This product is also part of the following panels:
- Hereditary cancer panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- panel hereditary paragangliomas (SDHA, SDHB, SDHC, SDHD, SDHAF2)
- panel hereditary renalcancer
Turnaround time
Complete analysis & Targeted analysis: 3 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- Deletion/duplication analysis (MLPA)
OMIM:
613019
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, FFPE, Isolated DNA
SDHB - hereditary paraganglioma and pheochromocytoma
This test is available for the following conditions:
- Conditions > Hearing impairment > Paraganglioma and pheochromocytoma, Hereditary
- Conditions > Endocrine > Paraganglioma and pheochromocytoma, Hereditary
- Conditions > Renal / Nephrological > Paraganglioma and pheochromocytoma, Hereditary
- Conditions > Oncogenetics > Paraganglioma and pheochromocytoma, Hereditary
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Hereditary cancer panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Mitochondrial disorders panel
- panel hereditary paragangliomas (SDHA, SDHB, SDHC, SDHD, SDHAF2)
- panel hereditary renalcancer
Turnaround time
3 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- Deletion/duplication analysis (MLPA)
OMIM:
185470
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, FFPE, Isolated DNA
SDHC - hereditary paraganglioma and pheochromocytoma
This test is available for the following conditions:
- Conditions > Hearing impairment > Paraganglioma and pheochromocytoma, Hereditary
- Conditions > Endocrine > Paraganglioma and pheochromocytoma, Hereditary
- Conditions > Renal / Nephrological > Paraganglioma and pheochromocytoma, Hereditary
- Conditions > Oncogenetics > Paraganglioma and pheochromocytoma, Hereditary
This product is also part of the following panels:
- Hereditary cancer panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- panel hereditary paragangliomas (SDHA, SDHB, SDHC, SDHD, SDHAF2)
- panel hereditary renalcancer
Turnaround time
3 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- Deletion/duplication analysis (MLPA)
OMIM:
602413
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, FFPE, Isolated DNA
SDHD - hereditary paraganglioma and pheochromocytoma
This test is available for the following conditions:
- Conditions > Hearing impairment > Paraganglioma and pheochromocytoma, Hereditary
- Conditions > Endocrine > Paraganglioma and pheochromocytoma, Hereditary
- Conditions > Renal / Nephrological > Paraganglioma and pheochromocytoma, Hereditary
- Conditions > Oncogenetics > Paraganglioma and pheochromocytoma, Hereditary
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Hereditary cancer panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Mitochondrial disorders panel
- panel hereditary paragangliomas (SDHA, SDHB, SDHC, SDHD, SDHAF2)
- panel hereditary renalcancer
Turnaround time
3 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- Deletion/duplication analysis (MLPA)
OMIM:
602690
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, FFPE, Isolated DNA
TMEM127 - hereditary pheochromocytoma
This test is available for the following conditions:
- Conditions > Hearing impairment > Paraganglioma and pheochromocytoma, Hereditary
- Conditions > Endocrine > Paraganglioma and pheochromocytoma, Hereditary
- Conditions > Renal / Nephrological > Paraganglioma and pheochromocytoma, Hereditary
- Conditions > Oncogenetics > Paraganglioma and pheochromocytoma, Hereditary
This product is also part of the following panels:
- Hereditary cancer panel
- Mendelian inherited disorders panel with genome wide CNV analysis
Turnaround time
Complete analysis & Targeted analysis: 3 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
613403
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, FFPE, Isolated DNA
VHL - hereditary paragangliomas and pheochromocytomas
This test is available for the following conditions:
- Conditions > Hearing impairment > Paraganglioma and pheochromocytoma, Hereditary
- Conditions > Endocrine > Paraganglioma and pheochromocytoma, Hereditary
- Conditions > Renal / Nephrological > Paraganglioma and pheochromocytoma, Hereditary
- Conditions > Oncogenetics > Paraganglioma and pheochromocytoma, Hereditary
This product is also part of the following panels:
- Ciliopathies panel
- Comprehensive preconception carrier test panel¹
- Hereditary cancer panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- panel hereditary renalcancer
- Skin disorders panel¹
- Vision disorders panel
Turnaround time
3 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- Deletion/duplication analysis (MLPA)
OMIM:
608537
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, FFPE, Isolated DNA
