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Test ID: MITON    
Mitochondrial Nuclear Gene Panel by Next-Generation Sequencing (NGS), Varies

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Useful For Suggests clinical disorders or settings where the test may be helpful

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

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

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.

Reflex Tests Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
FIBRFibroblast CultureYesNo
CRYOBCryopreserve for Biochem StudiesNoNo

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

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.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing when appropriate

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Mitochondrial Nuclear Gene Panel

Aliases Lists additional common names for a test, as an aid in searching

Next Gen Sequencing Test
Mitochondrial disease
Mitochondrial nuclear genes
Leigh syndrome
Coenzyme Q10 deficiency
Barth syndrome
Complex I deficiency
Complex II deficiency
Complex III deficiency
Complex IV deficiency
Complex V deficiency
Pyruvate Dehydrogenase deficiency
MNGIE
Mitochondrial neurogastrointestinal encephalomyopathy
Cytochrome c Oxidase deficiency