ALDH3A2 - Sjogren-Larsson syndrome
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > Sjogren-Larsson syndrome
- Conditions > Skin > Sjogren-Larsson syndrome
- Conditions > Neurological > Sjogren-Larsson syndrome
- Conditions > Vision impairment / blindness > Sjogren-Larsson syndrome
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES intellectual disability (93.5% *)
- WES Mendelian inherited disorders (93.5% *)
- WES metabolic disorders (93.5% *)
- WES movement disorders (93.5% *)
- WES skin disorders¹ (93.5% *)
- WES vision disorders (93.5% *)
* % 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:
609523
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane