New Tests Available! 
| 1. | | 1. Alpha-aminoadipic semialdehyde Analysis in CSF and Urine for pyridoxine-responsive seizures.
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| 2. | | Next Generation Sequencing PLUS Functional Testing Packages: Designed to help understand the functional consequences of genetic variants identified in NextGen Sequencing.
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| 3. | | Creatine/Guanidinoacetate Analysis for Disorders of Creatine Metabolism.
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| 4. | | Gene Deletion/Duplication Analyses (MLPAs).
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| 5. | | Nerve Biopsy Test.
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Molecular Laboratory: The Medical Neurogenetics molecular laboratory provides extensive testing for the diagnosis of
mitochondrial diseases as well as a vast array of DNA-based diagnostic testing for neurogenetic, neuromuscular, and metabolic
diseases. Please see our requisition form for a full list of tests.
Metabolic Laboratory: Disorders in amino acid and organic acid metabolism can produce a wide range of
symptoms in infants, children and adults. For the diagnosis and management of individuals with inherited metabolic disorders,
the Medical Neurogenetics metabolic laboratory provides a broad range of specialized testing.
Neurochemistry Laboratory: Under the direction of nationally recognized scientist, Dr. Keith Hyland, the
neurochemistry laboratory specializes in metabolic analyses, enzymology, and gene sequencing for a broad array of neurometabolic
diseases such as those affecting neurotransmitters and cerebral folate metabolism.
Types of testing
Medical Neurogenetics is a full service clinical laboratory specializing in esoteric metabolic and molecular testing. Click on the test type
to see the range of tests available. Click on the Forms, License & Billing tab for more information. If you do not see the
desired test, please contact us to inquire.
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