CODE TEST NAME TAT METHODOLOGY DETAILS
MET29 3-O-Methyldopa (Plasma)    10 - 14 days LC/MS/MS Details
NC09 4-Hydroxybutyric acid (CSF)    10 - 14 days GC/MS Details
NC01 5-Methyltetrahydrofolate (CSF)    10 - 14 days HPLC/Electrochemistry Details
MOL026 ABCB7 Full Gene Sequencing Analysis    2 - 4 weeks Sanger Sequencing Details
MOL242 ACAD8 Full Gene Sequencing Analysis    2 - 4 weeks Sanger Sequencing Details
MOL243 ACAD9 Full Gene Sequencing Analysis    2 - 4 weeks Sanger Sequencing Details
MOL027 ACADM Full Gene Sequencing Analysis    2 - 4 weeks Sanger Sequencing Details
MOL028 ACADS Full Gene Sequencing Analysis    2 - 4 weeks Sanger Sequencing Details
MOL029 ACADVL Full Gene Sequencing Analysis    2 - 4 weeks Sanger Sequencing Details
MOL261 ACADVL Full Gene Sequencing Analysis + MLPA Deletion/Duplication Analysis    2 - 4 weeks Sanger Sequencing; MLPA Details
MOL260 ACADVL MLPA Deletion/Duplication Analysis    2 - 4 weeks MLPA Details
MOL309 ADAR Full Gene Sequencing Analysis    2 - 4 weeks Sanger Sequencing Details
MOL140 ADCK3 Full Gene Sequencing Analysis    2 - 4 weeks Sanger Sequencing Details
MOL209 ADSL Full Gene Sequencing Analysis    2 - 4 weeks Sanger Sequencing Details
NGS344 Aicardi-Goutieres Syndrome    7 genes 2 - 4 weeks NGS Details
MOL183 AIFM1 Full Gene Sequencing Analysis    2 - 4 weeks Sanger Sequencing Details
MOL125 ALDH5A1 Full Gene Sequencing Analysis    2 - 4 weeks Sanger Sequencing Details
MOL030 ALDH7A1 Full Gene Sequencing Analysis    2 - 4 weeks Sanger Sequencing Details
NC08 Alpha Aminoadipic Semialdehyde (CSF)    10 - 14 days LC/MS/MS Details
MET20 Alpha Aminoadipic Semialdehyde (Urine)    10 - 14 days LC/MS/MS Details
NGS356 Alzheimer Disease/Frontotemporal Dementia    38 genes 2 - 4 weeks NGS Details
NGS406 Alzheimer Disease/Frontotemporal Dementia + C9orf72 Repeat Expansion Analysis    38 genes 2 - 4 weeks NGS; Repeat Primed-PCR Details
MET01 Amino Acids (CSF)    10 - 14 days Amino Acid Analyzer (HPLC) Details
MET02 Amino Acids (Plasma)    10 - 14 days Amino Acid Analyzer (HPLC) Details
MET03 Amino Acids (Urine)    10 - 14 days Amino Acid Analyzer (HPLC) Details
MOL185 AMPD1 Full Gene Sequencing Analysis    2 - 4 weeks Sanger Sequencing Details
NGS380 Amyloid-related Disorders    16 genes 2 - 4 weeks NGS Details
NGS323 Amyotrophic Lateral Sclerosis    28 genes 2 - 4 weeks NGS Details
NGS405 Amyotrophic Lateral Sclerosis + C9orf72 Repeat Expansion Analysis    28 genes 2 - 4 weeks NGS; Repeat Primed-PCR Details
MOL110 APTX Full Gene Sequencing Analysis    2 - 4 weeks Sanger Sequencing Details
MOL306 ARHGEF9 Full Gene Sequencing Analysis    2 - 4 weeks Sanger Sequencing Details
ENZ01 Aromatic L-amino acid Decarboxylase Enzyme Analysis (Plasma)    3 weeks Enzymology/HPLC/Electrochemistry Details
NGS367 Arrhythmogenic Right Ventricular Dysplasia    10 genes 2 - 4 weeks NGS Details
NGS324 Ataxia/Episodic Ataxia Disorders + mtDNA    361 genes 2 - 4 weeks NGS Details
NGS419 Ataxia/Episodic Ataxia Disorders + mtDNA + FRDA Repeat Expansion Analysis    361 genes 2 - 4 weeks NGS; Repeat Primed-PCR Details
NGS408 Ataxia/Episodic Ataxia Disorders + mtDNA + HTT Repeat Expansion Analysis    361 genes 2 - 4 weeks NGS; Repeat Primed-PCR Details
NGS420 Ataxia/Episodic Ataxia Disorders + mtDNA + SCA & FRDA Repeat Expansion Analysis    361 genes 2 - 4 weeks NGS; Repeat Primed-PCR Details
NGS417 Ataxia/Episodic Ataxia Disorders + mtDNA + SCA & HTT Repeat Expansion Analysis    361 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
MOL267 ATL1/SPG3 Full Gene Sequencing Analysis + MLPA Deletion/Duplication Analysis    2 - 4 weeks Sanger Sequencing; MLPA Details
MOL266 ATL1/SPG3 MLPA Deletion/Duplication Analysis    2 - 4 weeks MLPA Details
MOL032 ATP1A2 Full Gene Sequencing Analysis    2 - 4 weeks Sanger Sequencing Details
MOL214 ATP1A2 MLPA Deletion/Duplication Analysis    2 - 4 weeks MLPA Details
MOL295 ATP5E Full Gene Sequencing Analysis    2 - 4 weeks Sanger Sequencing Details
MOL112 ATPAF2 Full Gene Sequencing Analysis    2 - 4 weeks Sanger Sequencing Details
NGS392 Bartter/Gitelman Syndromes    8 genes 2 - 4 weeks NGS Details
NGS360 Basal Ganglia Calcification Dystonia    23 genes 2 - 4 weeks NGS Details
MOL045 BCS1L Full Gene Sequencing Analysis    2 - 4 weeks Sanger Sequencing Details
MOL147 BRAF Full Gene Sequencing Analysis    2 - 4 weeks Sanger Sequencing Details
NGS369 Brugada Syndrome    12 genes 2 - 4 weeks NGS Details

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