Gene

FGF3 - congenital deafness with inner ear agenesis, microtia, and microdontia

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 335

FGF3 - congenital deafness with inner ear agenesis, microtia, and microdontia



€ 335

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 craniofacial anomalies (100.0% **)
  • WES hearing impairment (100.0% **)
  • WES Mendelian inherited disorders (100.0% **)
  • WES skin disorders* (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




€ 335
Gene

GALNT3 - familial hyperphosphatemic tumoral calcinosis

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 393

GALNT3 - familial hyperphosphatemic tumoral calcinosis



€ 393

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 Mendelian inherited disorders (98.7% **)
  • WES metabolic disorders (98.7% **)
  • WES renal disorders (98.7% **)
  • WES short stature/skeletal dysplasia (98.7% **)
  • WES skin disorders* (98.7% **)

** % 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




€ 393