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About Us
Shipping
Information
Diagnosis of Glycine Encephalopathy (NKH)
Test
search: MGH Laboratory
Handbook
Useful Links
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Tests Offered
- Amino acid
analysis, quantitative
- Argininosuccinate,
quantitative
- Arginase
activity *
- Fumarase
activity *
- Glutamine
level
- Glycine
level
- HHH
Syndrome testing (ornithine incorporation assay) *
- Homocitrulline
- Homocystinuria/CBS,
G307S and I278T *
- Medium
chain acyl CoA dehydrogenase (MCAD), 985A>G
- Methylene
tetrahydrofolate reductase (MTHFR), 677C>T and 1298A>C
- Ornithine
level
- PKU
testing
- Succinylpurine
screen
- Sulfite
Oxidase (SUOX) mutation studies *
- Thiosulfate
* Done by pre-arrangement only
Specimen
requirements
Please
contact us by phone or email for further information, or to discuss
additional special testing not listed here.
Diagnosis of Glycine Encephalopathy (NKH)
Isolated
Sulfite Oxidase deficiency vs Molybdenum Cofactor deficiency
Test
search: MGH Laboratory
Handbook
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