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
NGS330 Comprehensive Muscular Dystrophy/Myopathy + mtDNA    459 genes 2 - 4 weeks NGS Details
RNA001 MNG Transcriptome™    2 - 4 weeks RNA Sequencing Details
NGS385 Comprehensive Epilepsy + mtDNA    552 genes 2 - 4 weeks NGS Details
NGS325 Comprehensive Intellectual Disability/Autism + mtDNA    894 genes 2 - 4 weeks NGS Details
NGS420 Ataxia/Episodic Ataxia Disorders + mtDNA + SCA & FRDA Repeat Expansion Analysis    361 genes 2 - 4 weeks NGS; Repeat Primed-PCR Details
MOL299 Myotonic Dystrophy 1 (DMPK) Genetic Testing (Repeat Expansion)    2 - 4 weeks Repeat-Primed PCR (QP-PCR) Details
NGS358 Comprehensive Dystonia + mtDNA    192 genes 2 - 4 weeks NGS Details
NGS432 Comprehensive Intellectual Disability/Autism + mtDNA + Fragile X Repeat Expansion & Methylation    894 genes 2 - 4 weeks NGS; Repeat Primed-PCR 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
NGS445 Comprehensive Neuropathies + mtDNA    628 genes 2 - 4 weeks NGS Details
NGS376 Comprehensive Dementia    92 genes 2 - 4 weeks NGS Details
WGS003 MNGenome® Proband Only Sequencing    2 - 6 weeks Whole Genome Sequencing Details
NGS418 MNG Xpress™ Actionable Epilepsy    69 genes 10 - 14 days NGS Details
WES003 MNG Exome™ Proband Only Sequencing + mtDNA    2 - 4 weeks Whole Exome Sequencing Details
NGS409 Comprehensive Dystonia + mtDNA + HTT Repeat Expansion Analysis    192 genes 2 - 4 weeks NGS; Repeat Primed-PCR Details
NGS407 Comprehensive Dementia + C9orf72 Repeat Expansion Analysis    92 genes 2 - 4 weeks NGS; Repeat Primed-PCR Details
NGS431 Ataxia/Episodic Ataxia Disorders + mtDNA + SCA Repeat Expansion Analysis    361 genes 2 - 4 weeks NGS; Repeat Primed-PCR Details
MOL249 Known Familial Variant (KFV) Analysis (each mutation)    2 - 4 weeks NGS Details
NGS411 Comprehensive Dementia + C9orf72 & HTT Repeat Expansion Analysis    92 genes 2 - 4 weeks NGS; Repeat Primed-PCR Details
NGS410 Comprehensive Dementia + HTT Repeat Expansion Analysis    92 genes 2 - 4 weeks NGS; Repeat Primed-PCR Details
MOL021 Mitochondrial Genome Sequencing    2 - 4 weeks NGS Details
RNA003 Gene-Specific RNA Sequencing Targeted Analysis    2 - 4 weeks RNA Sequencing Details
NGS301 Comprehensive Cellular Energetics Defects + mtDNA    320 genes 2 - 4 weeks NGS Details
NGS337 Spastic Paraplegia + mtDNA    262 genes 2 - 4 weeks NGS Details
NC01 5-Methyltetrahydrofolate (CSF)    10 - 14 days HPLC/Electrochemistry Details
MOL303 Myotonic Dystrophy 2 (ZNF9/CNBP) Genetic Testing (Repeat Expansion)    2 - 4 weeks Repeat-Primed PCR (QP-PCR) Details
MET20 Alpha Aminoadipic Semialdehyde (Urine)    10 - 14 days LC/MS/MS Details
NGS319 Fever Syndromes    33 genes 2 - 4 weeks NGS Details
NGS357 Parkinson disease/Parkinsonism    74 genes 2 - 4 weeks NGS Details
NGS369 Brugada Syndrome    12 genes 2 - 4 weeks NGS Details
NGS363 Comprehensive Cardiomyopathy + mtDNA    127 genes 2 - 4 weeks NGS Details
NGS372 Comprehensive Leukodystrophy/Leukoencephalopathy + mtDNA    121 genes 2 - 4 weeks NGS Details
MET22 Folate Receptor Antibody Assay (Plasma/Serum)    10 - 14 days ELISA Details
NGS370 Congenital Heart Defects    101 genes 2 - 4 weeks NGS Details
NGS365 Hereditary Cardiac Arrhythmia    59 genes 2 - 4 weeks NGS Details
NC03 Neopterin/Tetrahydrobiopterin (CSF)    10 - 14 days HPLC/Electrochemistry/Fluorescence Details
NGS386 Epileptic Encephalopathy    136 genes 2 - 4 weeks NGS Details
NGS425 Microcephaly    296 genes 2 - 4 weeks NGS Details
MOL259 Friedreich Ataxia Genetic Testing (Trinucleotide Repeat Expansion)    2 - 4 weeks Repeat-Primed PCR (QP-PCR) Details
NGS399 Heterotaxy Syndromes    7 genes 2 - 4 weeks NGS Details
NGS345 Charcot-Marie-Tooth Disease + mtDNA    188 genes 2 - 4 weeks NGS Details
NGS367 Arrhythmogenic Right Ventricular Dysplasia    10 genes 2 - 4 weeks NGS Details
NGS364 Left Ventricular Noncompaction Cardiomyopathy Syndromes    7 genes 2 - 4 weeks NGS Details
MOL002 Mitochondrial DNA Deletion Analysis    2 - 4 weeks NGS Details
NGS377 Ehlers Danlos, Ehlers Danlos-like Syndromes, and Aneurysm Syndromes    46 genes 2 - 4 weeks NGS Details
NGS315 Neurotransmitter Metabolism Deficiency    59 genes 2 - 4 weeks NGS Details
MET07 Lactate (CSF)    10 - 14 days Enzyme/UV Detection Details

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