Pontocerebellar hypoplasia

RARS2 - pontocerebellar hypoplasia, type 6

This test is available for the following conditions:

• Conditions > Multiple congenital anomalies (MCA) > Pontocerebellar hypoplasia
• Conditions > Neurological > Pontocerebellar hypoplasia

This product is also part of the following panels:

• WES comprehensive preconception carrier test ¹
• WES epilepsy (100.0% *)
• WES intellectual disability (100.0% *)
• WES Mendelian inherited disorders (100.0% *)
• WES mitochondrial disorders (100.0% *)
• WES movement 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: 611524
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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