Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
Diagnosis of the subset of mitochondrial disease that results from variants in the nuclear-encoded genes
A second-tier test for patients in whom previous targeted gene variant analyses for specific mitochondrial disease-related genes were negative
Identifying variants within genes of the nuclear genome that are known to be associated with mitochondrial disease, allowing for predictive testing of at-risk family members
This test includes next-generation sequencing (NGS) and supplemental Sanger sequencing to evaluate for variants in the following genes: AARS2, AASS, ABAT, ABCB7, ACACA, ACAD9, ACO2, AFG3L2, AGK, AIFM1, ALDH3A2, AMPD1, APOPT1, APTX, ATP5A1, ATP5E, ATP5G3, ATPAF2, AUH, BCS1L, BOLA3, C12orf65, CA5A, CHAT, CLPP, COA5, COA6, COQ2, COQ4, COQ6, COQ8A (ADCK3), COQ8B (ADCK4), COQ9, COX10, COX14, COX15, COX20, COX4I2, COX6B1, COX7B, CYC1, D2HGDH, DARS2, DGUOK, DLAT, DLD, DNA2, DNAJC19, DNM1L, EARS2, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FH, FOXRED1, FXN, GAMT, GARS, GCDH, GFER, GFM1, HARS2, HIBCH, IARS2, IBA57, IDH2, ISCU, L2HGDH, LARS2, LIAS, LRPPRC, LYRM4, LYRM7, MARS2, MGME1, MICU1, MPC1, MPV17, MRPL3, MRPL44, MRPS16, MRPS22, MTFMT, MTO1, MTPAP, NDUFA1, NDUFA2, NDUFA9, NDUFA10, NDUFA11, NDUFA12, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NUBPL, OGDH, OPA1, OPA3, OXCT1, PANK2, PC, PCK2, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PNKD, PNPT1, POLG, POLG2, PUS1, RARS2, RMND1, RRM2B, SACS, SARS2, SCO1, SCO2, SDHAF1, SERAC1, SFXN4, SLC19A3, SLC25A1, SLC25A3, SLC25A4, SLC25A12, SLC25A19, SLC52A2, SUCLA2, SUCLG1, SUGCT, SURF1, TACO1, TARS2, TAZ, TIMM8A, TIMM44, TK2, TMEM126A, TMEM70, TPK1, TRAP1, TRMU, TSFM, TTC19, TUFM, TWNK (C10orf2), TYMP, UQCRB, UQCRC2, UQCRQ, VARS2, XPNPEP3, and YARS2.
See Targeted Genes Interrogated by Mitochondrial Nuclear Gene Panel in Special Instructions for details regarding the targeted gene regions identified by this test.
Test ID | Reporting Name | Available Separately | Always Performed |
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FIBR | Fibroblast Culture | Yes | No |
CRYOB | Cryopreserve for Biochem Studies | No | No |
If skin biopsy is received, fibroblast culture and cryopreservation for biochemical studies will be added at an additional charge.
See Neuromuscular Myopathy Testing Algorithm in Special Instructions.
Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing when appropriate