| NGS or NGS-PLUS™ Panel: | NGS | NGS-PLUS1™ | NGS-PLUS2™ | NGS-PLUS3™ |
| Acceptable sample types: | blood, fibroblasts, or muscle | blood, fibroblasts, or muscle | fibroblasts or fibroblasts
+ blood | muscle or muscle
+ blood |
| NGS and Functional Assays: | NGS | x | x | x | x |
| mtDNA Sequencing | | x | x | x |
| mtDNA Depletion | | x | x | x |
| mtDNA Deletion | | x | x | x |
| OxPhos Subunit Western Blot | | | x | x |
| High Resolution Respirometry | | | x | |
| OxPhos Enzymology | | | | x |
Results for all NGS and NGS-PLUS™ panels are available in 8-12 weeks.
| NGS Panels: | Test Code: | Genes (click on MIM # for gene information): | NGS | NGS-PLUS1™ | NGS-PLUS2™ | NGS-PLUS3™ |
| Leigh Disease: Complex I Deficiency | MOL190 | C8ORF38 (612392); C20ORF7 (612360); FOXRED1 (613622); NDUFV1 (161015); NDUFS1 (157655); NDUFS3 (603846); NDUFS4 (602694); NDUFS7 (601825); NDUFS8 (602141); NDUFA2 (602137); NDUFAF2 (609653); PDSS2 (610564) | $2,100 | $2,300 | $2,700 | $2,700 |
| Leigh Disease: Complex II Deficiency | MOL191 | SDHA (600857) | $300 | $500 | $900 | $900 |
| Leigh Disease: Complex III Deficiency | MOL192 | BCS1L (603647) | $300 | $500 | $900 | $900 |
| Leigh Disease: Complex IV Deficiency | MOL193 | COX10 (602125); COX15 (603646); AIFM1 (300169); LRPPRC (607544); SCO2 (604272); SURF1 (185620); TACO1 (612958) | $1,300 | $1,500 | $1,900 | $1,900 |
| Leigh Disease: Complex V Deficiency | MOL194 | TMEM70 (612418); ATPAF2 (608918) | $475 | $675 | $1,075 | $1,075 |
| Leigh Disease: Pyruvate Metabolism Defects AND OXPHOS Disease (includes MLPA for PDHA1 deletions/duplications) | MOL195 | PDHA1 (300502); PDHB (179060); PDHX (608769); PDP1 (605993); DLAT (608770); DLD (238331); PC (608786); includes MLPA for PDHA1 deletions/duplications | $1,300 | $1,500 | $1,900 | $1,900 |
| Progressive External Ophthalmoplegia | MOL196 | POLG (174763); SLC25A4 (ANT1; 103220); C10ORF2 (TWINKLE; 606075); POLG2 (604983); RRM2B (604712); OPA1 (605290) | $1,200 | $1,400 | $1,800 | $1,800 |
| Coenzyme Q10 Deficiency | MOL197 | APTX (606350); BRAF (164757); CABC1 (606980); PDSS1 (607429); PDSS2 (610564); COQ2 (609825); COQ3 (605196); COQ7 (601683); COQ9 (612837) | $1,300 | $1,500 | $1,900 | $1,900 |
| Comprehensive mtDNA Depletion Syndromes | MOL198 | C10ORF2 (TWINKLE; 606075); DGUOK (601465); MPV17 (137960); POLG (174763); POLG2 (604983); RRM2B (604712); SLC25A4 (ANT1; 103220); SUCLA2 (603921); SUCLG1 (611224); TK2 (188250); TYMP (131222) | $2,100 | $2,300 | $2,700 | $2,700 |
| Hepatocerebral mtDNA Depletion Syndrome | MOL199 | C10ORF2 (TWINKLE; 606075); DGUOK (601465); MPV17 (137960); POLG (174763) | $700 | $900 | $1,300 | $1,300 |
| Myopathic mtDNA Depletion Syndrome | MOL200 | C10ORF2 (TWINKLE; 606075); POLG (174763); POLG2 (604983); RRM2B (604712); SLC25A4 (ANT1; 103220); TK2 (188250); TYMP (131222) | $1,300 | $1,500 | $1,900 | $1,900 |
| Encephalopathic mtDNA Depletion Syndrome | MOL201 | POLG (174763); RRM2B (604712); SUCLA2 (603921); SUCLG1 (611224); TYMP (131222) | $700 | $900 | $1,300 | $1,300 |
| MELAS Syndrome (Mitochondrial myopathy, encephalomyopathy, lactic acidosis and stroke-like episodes) | MOL202 | C10ORF2 (TWINKLE; 606075); POLG (174763) | $475 | $675 | $1,075 | $1,075 |
| Mitochondrial Complex I Deficiency | MOL203 | NDUFA1 (300078); NDUFA2 (602137); NDUFA11 (612638); NDUFV1 (161015); NDUFV2 (600532); NDUFS1 (157655); NDUFS2 (602985); NDUFS3 (603846); NDUFS4 (602694); NDUFS6 (603848); NDUFS7 (601825); NDUFS8 (602141); NDUFAF2 (609653); NDUFAF3 (612911); NDUFAF4 (HRPAP20; 611776); C20ORF7 (612360); FOXRED1 (613622); NUBPL (613621) | $2,300 | $2,500 | $2,900 | $2,900 |
| Mitochondrial Complex II Deficiency | MOL204 | SDHA (600857); SDHB (185470); SDHC (602413); SDHD (602690); SDHAF1 (612848) | $700 | $900 | $1,300 | $1,300 |
| Mitochondrial Complex III Deficiency | MOL205 | BCS1L (603647); UQCRB (191330); UQCRQ (612080) | $575 | $775 | $1,175 | $1,175 |
| Mitochondrial Complex IV Deficiency | MOL206 | COX6B1 (124089); COX10 (602125); COX15 (603646); FASTKD2 (612322); LRPPRC (607544); SCO1 (603644); SCO2 (604272); SURF1 (185620); TACO1 (612958) | $1,300 | $1,500 | $1,900 | $1,900 |
| Mitochondrial Complex V Deficiency | MOL207 | TMEM70 (612418); ATPAF2 (608918); ATP5E (606153) | $575 | $775 | $1,175 | $1,175 |
Get the NGS-PLUS™ Testing Guide here.
Get the NGS-PLUS™ Order Form here.
Please call 678-225-0222 ext105 with any technical or clinical questions about our new NGS-PLUS™ testing.
For pricing and billing questions, please call 678-225-0222 ext102.
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