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Welcome To Our Site
About Us
Shipping
Information
Resources for 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 *
- Canavan
Disease testing, N-acetylaspartate determination
- Carnitine,
free & total
- Fumarase
activity *
- Fumarate
hydratase mutation studies *
- Glutamine
level
- Glycine
level
- Homocitrulline
- Homocystinuria/CBS,
G307S and I278T *
- Medium
chain acyl CoA dehydrogenase (MCAD), 985A>G
- Methylene
tetrahydrofolate reductase (MTHFR), 677C>T and 1298A>C
- Organic
acid analysis by GC-MS
- Ornithine
level
- Orotic
acid
- PKU
testing
- Succinylpurine
screen
- Sulfite
Oxidase 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.
Resources for Diagnosis of Glycine Encephalopathy
(NKH)
Test
search: MGH Laboratory
Handbook
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