Neurology / Neuropediatrics

• Combined oxidative phosphorylation deficiency type 26 (deletion/duplication analysis of TRMT5) + info
   
• Combined oxidative phosphorylation deficiency type 3 (sequence analysis of TSFM gene) + info
   
• Combined oxidative phosphorylation deficiency type 4 (sequence analysis of TUFM gene) + info
   
• Combined oxidative phosphorylation deficiency type 6 (sequence analysis of AIFM1 gene) + info
   
• Complete mitochondrial DNA sequencing + info
   
• Compton-North congenital myopathy (sequence analysis of CNTN1 gene) + info
   
• Congenital disorder of glycosylation type 1P (sequence analysis of ALG11 gene) + info
   
• Congenital disorder of glycosylation type 1u (sequence analysis of DPM2 gene) + info
   
• Congenital disorder of glycosylation type 1v (sequence analysis of NGLY1 gene) + info
   
• Congenital disorder of glycosylation type Ia (deletion/duplication analysis on PMM2 gene) + info
   
• Congenital disorder of glycosylation type Ia (sequence analysis of PMM2 gene) + info
   
• Congenital disorder of glycosylation type Ib (sequence analysis of MPI gene) + info
   
• Congenital disorder of glycosylation type In (deletion/duplication analysis of RFT1 gene) + info
   
• Congenital disorder of glycosylation type Iq (sequence analysis of SRD5A3 gene) + info
   
• Congenital disorder of glycosylation type Iw (sequence analysis of STT3A gene) + info
   
• Congenital disorder of glycosylation type Ix (sequence analysis of STT3B gene) + info
   
• Congenital disorders of glycosylation (NGS panel for 39 genes) + info
   
• Congenital fibrosis of extraocular muscles (sequence analysis of TUBB2B gene) + info
   
• Congenital fibrosis of extraocular muscles (sequence analysis of TUBB3 gene) + info
   
• Congenital hypopituitarism (NGS panel for 7 genes) + info
   

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