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PGAP2 - Hyperphosphatasia with intellectual disability syndrome type 3
This test is available for the following conditions:
- Conditions > Intellectual Disability > Hyperfosfatasemia with intellectual disability
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES metabolic 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:
615187
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
PIGV - hyperphosphatasia with intellectual disability
This test is available for the following conditions:
- Conditions > Intellectual Disability > Hyperfosfatasemia with intellectual disability
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES metabolic disorders (100.0% *)
- WES orofacial clefting (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:
239300
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
