| MPV 17-related disorder |
No mutations found |
| Glycogen storage disease type IV GBE1 sequencing |
No mutations found |
| CFTR mutation analysis |
No mutations found |
| Transferrin isoelectric focusing for congenital disorders of glycosylation |
Normal |
| Lysosomal enzyme screen |
Normal |
| Lactate and pyruvate |
Normal |
| Very long chain fatty acids |
Normal |
| Anti-enterocyte antibody |
Weak positive (1:20) |
| TTG IgA |
Negative |
| Endomysial IgA |
Negative |
| Gliadin IgA and IgG |
Negative |
| Anti-nuclear antibody |
Negative |
| Anti-neutrophil cytoplasmic antibody |
Negative |
| Anti-Smooth muscle antibody |
Negative |
| Anti-mitochondrial M2 antibody |
Negative |
| Anti-liver cytosol or soluble antibodies |
Negative |
| Anti LKM antibody |
Negative |
| Anti-F-actin antibody |
Negative |
| Quantitative immunoglobulins |
IgG 1833 (286-1680), IgA 55 (10-131), IgM 295 (21-192) |
| IgG subclasses |
IgG1 1520 (143-394), IgG2 100 (23-147), IgG3 154 (4-70), IgG4 1 (1-14) |
| Lymphocyte subpopulations |
Low B-lineage lymphocyte percentages, increased CD8 T cell percentages |
| B cell populations |
Decreased percentage of transitional B cells and CD5+ B cells |
| Mitogen proliferation assay |
Normal |
| Parvovirus IgM and IgG |
Negative |
| CMV quantitative PCR |
Initial positive log 3.7, repeat negative x3 |
| EBV quantitative PCR |
Negative |
| Hepatitis C virus PCR |
Negative |
| Mycoplasma IgM and IgG |
Negative |
| Legionella urine antigen |
Negative |
| Respiratory viral panel |
Negative |
