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:
- WES comprehensive preconception carrier test ¹
- WES craniofacial anomalies (100.0% *)
- WES hearing impairment (including GJB2) (100.0% *)
- WES Mendelian inherited disorders (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:
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:
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (100.0% *)
- WES metabolic disorders (100.0% *)
- WES renal disorders (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:
601756
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
