NL
FGF3 - congenital deafness with inner ear agenesis, microtia, and microdontia
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Familial hyperphosphatemic tumoral calcinosis
- Conditions > Renal / Nephrological > Familial hyperphosphatemic tumoral calcinosis
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Craniofacial anomalies panel with genome wide CNV analysis
- Hearing impairment panel (including GJB2)
- Mendelian inherited disorders panel with genome wide CNV analysis
- 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:
164950
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
GALNT3 - familial hyperphosphatemic tumoral calcinosis
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Familial hyperphosphatemic tumoral calcinosis
- Conditions > Renal / Nephrological > Familial hyperphosphatemic tumoral calcinosis
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
- Renal disorders panel
- Short stature/skeletal dysplasia panel with genome wide CNV analysis
- 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:
601756
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
