Proteus syndroom

AKT1 (exon 4) - Proteus syndrome ¹

This test is available for the following conditions:

• Conditions > Skin > Proteus syndroom

This product is also part of the following panels:

• panel Somatic Overgrowth Syndrome and Vascular Malformations (18 genes)
• WES hereditary cancer (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: 6 weeks / Targeted analysis: 4 weeks

Method

• Sequence analysis of selected exons and flanking intron-exon boundaries

Remarks
Only exon 4 will be analysed.

OMIM: 164730
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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