CODE | TEST NAME | TAT | METHODOLOGY | DETAILS |
---|---|---|---|---|
ENZ01 | Aromatic L-amino acid Decarboxylase Enzyme Analysis (Plasma) | 3 weeks | Enzymology/HPLC/Electrochemistry | Details |
ENZ06 | Thymidine Phosphorylase Enzyme Analysis (Blood) | 3 weeks | Enzymology/HPLC/UV Detection | 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 |
MET04 | Coenzyme Q10 (Leukocytes) | 10 - 14 days | HPLC/Electrochemistry | Details |
MET05 | Coenzyme Q10 (Muscle) | 10 - 14 days | HPLC/Electrochemistry | Details |
MET07 | Lactate (CSF) | 10 - 14 days | Enzyme/UV Detection | Details |
MET08 | Lactate (plasma) | 10 - 14 days | Enzyme/UV Detection | Details |
MET09 | Phenylalanine Loading Assay (Plasma) | 10 - 14 days | Amino Acid Analyzer (HPLC) | Details |
MET10 | Pyruvate (Blood) | 10 - 14 days | Enzyme/UV Detection | Details |
MET11 | Pyruvate (CSF) | 10 - 14 days | Enzyme/UV Detection | Details |
MET12 | Thymidine/Deoxyuridine Analytes (Plasma) | 10 - 14 days | HPLC/UV Detection | Details |
MET19 | Creatine and Guanidinoacetate (Urine) | 10 - 14 days | LC/MS/MS | Details |
MET20 | Alpha Aminoadipic Semialdehyde (Urine) | 10 - 14 days | LC/MS/MS | Details |
MET23 | Creatine and Guanidinoacetate (Plasma) | 10 - 14 days | LC/MS/MS | Details |
MET24 | Glucose (Plasma) | 10 - 14 days | UV Detection | Details |
MET29 | 3-O-Methyldopa (Plasma) | 10 - 14 days | LC/MS/MS | Details |
MOL001 | Mitochondrial DNA Depletion Testing (Muscle) | 2 - 4 weeks | Real-time Quantitative PCR Analysis | Details |
MOL002 | Mitochondrial DNA Deletion Analysis | 2 - 4 weeks | NGS | Details |
MOL021 | Mitochondrial Genome Sequencing | 2 - 4 weeks | NGS | Details |
MOL025 | DDC Full Gene Sequencing Analysis | 2 - 4 weeks | Sanger Sequencing | Details |
MOL026 | ABCB7 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 |
MOL030 | ALDH7A1 Full Gene Sequencing Analysis | 2 - 4 weeks | Sanger Sequencing | Details |
MOL031 | SLC25A4 Full Gene Sequencing Analysis | 2 - 4 weeks | Sanger Sequencing | Details |
MOL032 | ATP1A2 Full Gene Sequencing Analysis | 2 - 4 weeks | Sanger Sequencing | Details |
MOL033 | CACNA1A Full Gene Sequencing and Copy Number Analysis | 2 - 4 weeks | NGS | Details |
MOL034 | CAPN3 Full Gene Sequencing Analysis | 2 - 4 weeks | Sanger Sequencing | Details |
MOL035 | CAV3 Full Gene Sequencing Analysis | 2 - 4 weeks | Sanger Sequencing | Details |
MOL036 | NDUFS1 Full Gene Sequencing Analysis | 2 - 4 weeks | Sanger Sequencing | Details |
MOL037 | NDUFS4 Full Gene Sequencing Analysis | 2 - 4 weeks | Sanger Sequencing | Details |
MOL038 | NDUFS7 Full Gene Sequencing Analysis | 2 - 4 weeks | Sanger Sequencing | Details |
MOL039 | NDUFS8 Full Gene Sequencing Analysis | 2 - 4 weeks | Sanger Sequencing | Details |
MOL040 | NDUFV1 Full Gene Sequencing Analysis | 2 - 4 weeks | Sanger Sequencing | Details |
MOL041 | SDHA Full Gene Sequencing Analysis | 2 - 4 weeks | Sanger Sequencing | Details |
MOL042 | SDHB Full Gene Sequencing Analysis | 2 - 4 weeks | Sanger Sequencing | Details |
MOL043 | SDHC Full Gene Sequencing Analysis | 2 - 4 weeks | Sanger Sequencing | Details |
MOL044 | SDHD Full Gene Sequencing Analysis | 2 - 4 weeks | Sanger Sequencing | Details |
MOL045 | BCS1L Full Gene Sequencing Analysis | 2 - 4 weeks | Sanger Sequencing | Details |
MOL046 | COQ2 Full Gene Sequencing Analysis | 2 - 4 weeks | Sanger Sequencing | Details |
MOL047 | COX10 Full Gene Sequencing Analysis | 2 - 4 weeks | Sanger Sequencing | Details |
MOL048 | COX15 Full Gene Sequencing Analysis | 2 - 4 weeks | Sanger Sequencing | Details |
MOL049 | CPT1A Full Gene Sequencing Analysis | 2 - 4 weeks | Sanger Sequencing | Details |
MOL050 | CPT2 Full Gene Sequencing Analysis | 2 - 4 weeks | Sanger Sequencing | Details |
MOL051 | DGUOK Full Gene Sequencing Analysis | 2 - 4 weeks | Sanger Sequencing | Details |
MOL052 | DYSF Full Gene Sequencing Analysis | 2 - 4 weeks | Sanger Sequencing | Details |
MOL053 | TYMP Full Gene Sequencing Analysis | 2 - 4 weeks | Sanger Sequencing | Details |
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