Genomic Unity® Mitochondrial Analysis

Mitochondrial disorders are a clinically heterogeneous group of genetic disorders that affect the function of proteins or RNA molecules that reside in the mitochondria, the main energy factory for cells throughout the body. In mitochondrial disorders multiple organ systems are typically involved, particularly the brain, skeletal muscle, heart, kidney and endocrine systems which require high amounts of energy and tend to have the greatest average number of mitochondria per cell. Mitochondrial disorders are particularly hard to diagnose as they can affect each individual differently, leading to very different presentations from patient to patient.

Genomic Unity® Mitochondrial Analysis is an effective test for identifying the genetic cause underlying clinical symptoms consistent with a mitochondrial disorder.

Order this test when the patient presents with clinical symptoms affecting multiple organ systems and that are suggestive of a mitochondrial disorder, and you'd like the option to reflex up to Genomic Unity® Exome Plus Analysis.

checkmark Sequencing analysis of nuclear mitochondrial genes

checkmark Del/dup analysis of nuclear mitochondrial genes

checkmarkMitochondrial genome analysis with heteroplasmy  (≥5%)

Optionally includes:

checkmark Reflex to Genomic Unity™ Exome Plus Analysis

AARS2, ABCB6, ABCB7, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ACSF3, AFG3L2, AGK, AGL, AIFM1, AK2, ALAS2, ALDH18A1, ALDH2, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, AMACR, AMT, APTX, ATP5A1, ATP5E, ATP7B, ATP8B1, ATPAF2, ATXN2, AUH, BAX, BCKDHA, BCKDHB, BCKDK, BCL2, BCS1L, BOLA3, C12ORF65, C19ORF12, CA5A, CARS2, CAVIN1, CHCHD10, CISD2, CLPB, CLPP, COA5, COA6, COA8, COQ2, COQ4, COQ6, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX4I2, COX6A1, COX6B1, COX7B, CPT1A, CPT1C, CPT2, CYC1, CYCS, CYP11A1, CYP27A1, D2HGDH, DARS2, DBT, DDHD1, DECR1, DGMDH, DGUOK, DHODH, DHTKD1, DIABLO, DLAT, DLD, DNA2, DNAJC19, DNM1L, EARS2, ECHS1, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FAH, FARS2, FASTKD2, FBXL4, FDX10, FH, FOXRED1, FXN, G6PC, GAA, GAMT, GATM, GBE1, GCDH, GCSH, GDAP1, GFER, GFM1, GFM2, GLDC, GLRX5, GLUD1, GPI, GPT2, GPX1, GRHPR, GSR, GSS, GTPBP3, GYS1, GYS2, HADHA, HADHB, HARS2, HAX1, HCCS, HK1, HMGCL, HMGCS2, HOGA1, HSD17B10, HSD3B2, HSPA9, HSPD1, HTRA2, IARS2, IBA57, IDH2, IDH3B, ISCA2, ISCU, IVD, KIF1B, L2HGDH, LARS2, LGHA, LIAS, LIPT1, LONP1, LRPPRC, LYRM4, LYRM7, MARS2, MCCC1, MCCC2, MCEE, MECR, MFF, MFN2, MGME1, MICU1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MPC1, MPV17, MRPL12, MRPL3, MRPL44, MRPS16, MRPS22, MRPS7, MSRB3, MTFMT, MTO1, MTPAP, NADK2, NAGS, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFA1, NFU1, NNT, NUBPL, OAT, OGDH, OGG1, OPA1, OPA3, OXCT1, PAM16, PANK2, PARS2, PC, PCCA, PCCB, PCK2, PDHA1, PDHB, PDHX, PDK3, PDSS1, PDSS2, PET100, PFKM, PGAM2, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PINK1, PKLR, PNPLA8, PNPT1, POLG, POLG2, PPM1K, PRKAG2, PRODH, PRPS1, PTRH2, PUS1, PYCR1, PYCR2, PYGM, QARS1, RANBP2, RARS2, REEP1, RMND1, RNASEH1, RNASEL, RRM2B, SARDH, SARS2, SCO1, SCO2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A38, SLC25A4, SLC25A46, SLC37A4, SLC6A8, SOD2, SPG7, STAR, SUCLA2, SUCLG1, SURF1, TACO1, TARS2, TAZ, TIMM44, TIMM8A, TK2, TMEM126A, TMEM70, TMLHE, TPI1, TPK1, TRIT1, TRMU, TRNT1, TSFN, TTC19, TUFM, TWNK, TXNRD2, TYMP, UNG, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, VARS2, WDR81, WFS1, XPNPEP3, YARS2

Disorders that can be tested for include:

Complex I deficiency
Complex II deficiency
Complex III deficiency
Complex IV deficiency
Complex V deficiency
CPT I deficiency
CPT II deficiency
Diabetes mellitus and deafness (DAD)
Leber's hereditary optic neuropathy (LHON)
MELAS syndrome
Mitochondrial HMG-CoA synthase deficiency
Mitochondrial neurogastrointestinal encephalopathy (MNGIE)
Mitochondrial trifunctional protein deficiency
Myoclonic epilepsy with ragged red fibers (MERRF)
Neuropathy, ataxia, retinitis pigmentosis (NARP)

81404x12, 81405x32, 81406x33, 81407x2, 81460x1, 81479x2

The CPT codes provided are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Blood - 5ml
Saliva - contact us for a kit
gDNA - 5μg

Turn around time is ~8 weeks from sample receipt.

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