CODE TEST NAME TAT METHODOLOGY DETAILS
MET01 Amino Acids (CSF)    10 - 14 days Amino Acid Analyzer (HPLC) Details
MET11 Pyruvate (CSF)    10 - 14 days Enzyme/UV Detection Details
NC05 Pyridoxal 5'-phosphate (CSF)    10 - 14 days HPLC/Fluorescence Details
WES006 MNG Carrier Exome™    2 - 4 weeks Whole Exome Sequencing Details
NGS392 Bartter/Gitelman Syndromes    8 genes 2 - 4 weeks NGS Details
MET12 Thymidine/Deoxyuridine Analytes (Plasma)    10 - 14 days HPLC/UV Detection Details
NGS412 Myoclonic Epilepsy    102 genes 2 - 4 weeks NGS Details
NGS359 Primary Dystonia    20 genes 2 - 4 weeks NGS Details
NGS324 Ataxia/Episodic Ataxia Disorders + mtDNA    361 genes 2 - 4 weeks NGS Details
RNA002 Panel-Specific RNA Sequencing    2 - 4 weeks RNA Sequencing Details
MOL366 Huntington Disease (HTT) Genetic Testing (Repeat Expansion)    2 - 4 weeks Repeat-Primed PCR (QP-PCR) Details
NGS348 Fetal Akinesia, Arthrogryposis, or Contractures    152 genes 2 - 4 weeks NGS Details
NGS398 Macrocephaly and Overgrowth Syndromes    125 genes 2 - 4 weeks NGS Details
NGS356 Alzheimer Disease/Frontotemporal Dementia    38 genes 2 - 4 weeks NGS Details
NGS430 Stroke + mtDNA    29 genes 2 - 4 weeks NGS Details
MET04 Coenzyme Q10 (Leukocytes)    10 - 14 days HPLC/Electrochemistry Details
NGS349 Nonsyndromic Intellectual Disability    238 genes 2 - 4 weeks NGS Details
NGS350 Syndromic Intellectual Disability    686 genes 2 - 4 weeks NGS Details
WES007 MNG Healthy Exome™    2 - 4 weeks Whole Exome Sequencing Details
ENZ06 Thymidine Phosphorylase Enzyme Analysis (Blood)    3 weeks Enzymology/HPLC/UV Detection Details
MOL301 Spinal Muscular Atrophy (SMN1/SMN2) MLPA Deletion/Duplication Analysis    2 genes 2 - 4 weeks MLPA Details
MOL364 C9orf72 Genetic Testing (Repeat expansion)    2 - 4 weeks Repeat-Primed PCR (QP-PCR) Details
NGS426 Hydrocephalus    69 genes 2 - 4 weeks NGS Details
NGS198 Comprehensive mtDNA Depletion Syndromes    17 genes 2 - 4 weeks NGS Details
MOL001 Mitochondrial DNA Depletion Testing (Muscle)    2 - 4 weeks Real-time Quantitative PCR Analysis Details
NC02 Neopterin (CSF)    10 - 14 days HPLC/Electrochemistry/Fluorescence Details
NGS422 Limb-Girdle Muscular Dystrophy    29 genes 2 - 4 weeks NGS Details
NGS375 Vanishing White Matter, Dysmyelinating, and Hypomyelinating Leukodystrophy    62 genes 2 - 4 weeks NGS Details
NGS323 Amyotrophic Lateral Sclerosis    28 genes 2 - 4 weeks NGS Details
NGS429 Familial Hemiplegic Migraine + mtDNA    5 genes 2 - 4 weeks NGS Details
NGS335 Neurofibromatosis    21 genes 2 - 4 weeks NGS Details
NGS310 GABA Metabolism Deficiency    15 genes 2 - 4 weeks NGS Details
NC06 Succinyladenosine (CSF)    10 - 14 days HPLC/UV Detection Details
NGS400 Pain Syndromes    9 genes 2 - 4 weeks NGS Details
NGS421 Congenital Muscular Dystrophies    28 genes 2 - 4 weeks NGS Details
NGS373 Non-Mitochondrial Leukodystrophy/Leukoencephalopathy    53 genes 2 - 4 weeks NGS Details
NGS361 OXPHOS Defect Dystonia + mtDNA    43 genes 2 - 4 weeks NGS Details
NGS317 Serotonin Metabolism Deficiency    12 genes 2 - 4 weeks NGS Details
NC07 Sialic Acid (CSF)    10 - 14 days LC/MS/MS Details
NGS374 Mitochondrial Leukodystrophy/Leukoencephalopathy + mtDNA    44 genes 2 - 4 weeks NGS Details
NC10 Glucose (CSF)    10 - 14 days UV Detection Details
NGS379 Polycystic Kidney Disease    4 genes 2 - 4 weeks NGS Details
NGS401 Stickler Syndrome    5 genes 2 - 4 weeks NGS Details
NGS402 Usher Syndrome    12 genes 2 - 4 weeks NGS Details
NC08 Alpha Aminoadipic Semialdehyde (CSF)    10 - 14 days LC/MS/MS Details
NGS428 Tuberous Sclerosis    2 genes 2 - 4 weeks NGS Details
NGS316 Dopamine Metabolism Deficiency    13 genes 2 - 4 weeks NGS Details
NC09 4-Hydroxybutyric acid (CSF)    10 - 14 days GC/MS Details
MOL232 Mitochondrial Genome Sequencing + Deletion Analysis + Depletion Testing (Leukocyte)    2 - 4 weeks NGS; Real-time Quantitative PCR Details
MOL189 Mitochondrial Genome Sequencing + Deletion Analysis    2 - 4 weeks NGS Details

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