CODE TEST NAME TAT METHODOLOGY DETAILS
WGS001 MNGenome® TRIO Sequencing    2 - 6 weeks Whole Genome Sequencing Details
WES001 MNG Exome™ Trio Sequencing + mtDNA    2 - 4 weeks Whole Exome Sequencing Details
RNA001 MNG Transcriptome™    2 - 4 weeks RNA Sequencing Details
WGS003 MNGenome® Proband Only Sequencing    2 - 6 weeks Whole Genome Sequencing Details
WES003 MNG Exome™ Proband Only Sequencing + mtDNA    2 - 4 weeks Whole Exome Sequencing Details
NGS432 Comprehensive Intellectual Disability/Autism + Fragile X Repeat Expansion & Methylation    901 genes 2 - 4 weeks NGS; Repeat Primed-PCR Details
NGS418 MNG Xpress™ Actionable Epilepsy    69 genes 2 weeks NGS Details
NGS358 Comprehensive Dystonia + mtDNA    192 genes 2 - 4 weeks NGS Details
NGS325 Comprehensive Intellectual Disability/Autism    901 genes 2 - 4 weeks NGS Details
NGS445 Comprehensive Neuropathies + mtDNA    628 genes 2 - 4 weeks NGS Details
NGS409 Comprehensive Dystonia + mtDNA + HTT Repeat Expansion Analysis    192 genes 2 - 4 weeks NGS; Repeat Primed-PCR Details
NGS411 Comprehensive Dementia + C9orf72 & HTT Repeat Expansion Analysis    95 genes 2 - 4 weeks NGS; Repeat Primed-PCR Details
NGS407 Comprehensive Dementia + C9orf72 Repeat Expansion Analysis    95 genes 2 - 4 weeks NGS; Repeat Primed-PCR Details
NGS410 Comprehensive Dementia + HTT Repeat Expansion Analysis    95 genes 2 - 4 weeks NGS; Repeat Primed-PCR Details
NGS376 Comprehensive Dementia    95 genes 2 - 4 weeks NGS Details
NGS385 Comprehensive Epilepsy + mtDNA    553 genes 2 - 4 weeks NGS Details
NGS330 Comprehensive Muscular Dystrophy/Myopathy + mtDNA    460 genes 2 - 4 weeks NGS Details
MOL380 Comprehensive Spinocerebellar Ataxia Repeat Expansion Panel (SCA 1, 2, 3, 6, 7, 8, 10, 12, 17, 36 & DRPLA)    11 genes 2 - 4 weeks Repeat-Primed PCR (QP-PCR) Details
NC04 Neurotransmitter Metabolites (5HIAA, HVA, 3OMD) (CSF)    10 - 14 days HPLC/Electrochemistry Details
NGS337 Spastic Paraplegia + mtDNA    262 genes 2 - 4 weeks NGS Details
NGS420 Ataxia/Episodic Ataxia Disorders + mtDNA + SCA & FRDA Repeat Expansion Analysis    362 genes 2 - 4 weeks NGS; Repeat Primed-PCR Details
NGS431 Ataxia/Episodic Ataxia Disorders + mtDNA + SCA Repeat Expansion Analysis    362 genes 2 - 4 weeks NGS; Repeat Primed-PCR Details
NGS301 Comprehensive Cellular Energetics Defects + mtDNA    343 genes 2 - 4 weeks NGS Details
MOL021 Mitochondrial Genome Sequencing    2 - 4 weeks NGS Details
NGS386 Epileptic Encephalopathy    137 genes 2 - 4 weeks NGS Details
NGS359 Primary Dystonia    20 genes 2 - 4 weeks NGS Details
NGS345 Charcot-Marie-Tooth Disease + mtDNA    188 genes 2 - 4 weeks NGS Details
NGS372 Comprehensive Leukodystrophy/Leukoencephalopathy + mtDNA    122 genes 2 - 4 weeks NGS Details
NGS319 Fever Syndromes    36 genes 2 - 4 weeks NGS Details
NGS377 Ehlers Danlos, Ehlers Danlos-like Syndromes, and Aneurysm Syndromes    46 genes 2 - 4 weeks NGS Details
NGS365 Hereditary Cardiac Arrhythmia    60 genes 2 - 4 weeks NGS Details
NGS335 Neurofibromatosis    21 genes 2 - 4 weeks NGS Details
NC01 5-Methyltetrahydrofolate (CSF)    10 - 14 days HPLC/Electrochemistry Details
MOL249 Known Familial Mutation (KFM) Analysis (each mutation)    2 - 4 weeks NGS Details
MOL299 Myotonic Dystrophy 1 (DMPK) Genetic Testing (Repeat Expansion)    2 - 4 weeks Repeat-Primed PCR (QP-PCR) Details
MET11 Pyruvate (CSF)    10 - 14 days Enzyme/UV Detection Details
NC08 Alpha Aminoadipic Semialdehyde (CSF)    10 - 14 days LC/MS/MS Details
NGS392 Bartter/Gitelman Syndromes    8 genes 2 - 4 weeks NGS Details
MOL259 Friedreich Ataxia Genetic Testing (Trinucleotide Repeat Expansion)    2 - 4 weeks Repeat-Primed PCR (QP-PCR) Details
NGS315 Neurotransmitter Metabolism Deficiency    62 genes 2 - 4 weeks NGS Details
NC05 Pyridoxal 5'-phosphate (CSF)    10 - 14 days HPLC/Fluorescence Details
ENZ06 Thymidine Phosphorylase Enzyme Analysis (Blood)    3 weeks Enzymology/HPLC/UV Detection Details
MET20 Alpha Aminoadipic Semialdehyde (Urine)    10 - 14 days LC/MS/MS Details
ENZ01 Aromatic L-amino acid Decarboxylase Enzyme Analysis (Plasma)    3 weeks Enzymology/HPLC/Electrochemistry Details
NGS398 Macrocephaly and Overgrowth Syndromes    125 genes 2 - 4 weeks NGS Details
NGS324 Ataxia/Episodic Ataxia Disorders + mtDNA    362 genes 2 - 4 weeks NGS Details
MOL364 C9orf72 Genetic Testing (Repeat expansion)    2 - 4 weeks Repeat-Primed PCR (QP-PCR) Details
MET04 Coenzyme Q10 (Leukocytes)    10 - 14 days HPLC/Electrochemistry Details
MOL366 Huntington Disease (HTT) Genetic Testing (Repeat Expansion)    2 - 4 weeks Repeat-Primed PCR (QP-PCR) Details
MOL303 Myotonic Dystrophy 2 (ZNF9/CNBP) Genetic Testing (Repeat Expansion)    2 - 4 weeks Repeat-Primed PCR (QP-PCR) Details

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