| 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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