Combined Oxidative Phosphorylation Deficiency-13 (PNPT1) Targeted Testing

Short Name: PNPT1 Targeted

Combined oxidative phosphorylation deficiency-13 is an autosomal recessive condition resulting from mitochondrial dysfunction caused by pathogenic variants in the PNPT1 gene. Within the first months of life, affected individuals develop severe neurologic impairment. These impairments include hypotonia, abnormal dystonic movements, hearing loss, poor feeding, global developmental delay, and abnormal eye movements. The targeted test will analyze the c.1925_1927delTGG (p.Val642del) variant on the PNPT1 gene.

CPT Code: 81403

Turn-Around Time: 1-2 weeks