PTRH2 - Infantile-onset multisystem neurologic, endocrine, and pancreatic disease

This test is available for the following conditions:

• Conditions > Metabolic disorders > Infantile-onset multisystem neurologic, endocrine, and pancreatic disease

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 608625
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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