Mitochondrial Disorders Panel (Nuclear Genes Only)

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
5077 AARS2 81479,81479 Order Options and Pricing
ABCB7 81479,81479
ACAD9 81479,81479
ACAT1 81479,81479
ACO2 81479,81479
AFG3L2 81479,81479
AGK 81479,81479
AIFM1 81479,81479
ALAS2 81479,81479
APTX 81405,81479
ATP5F1A 81479,81479
ATP5F1D 81479,81479
ATP5F1E 81479,81479
ATP7B 81479,81479
ATPAF2 81479,81479
BCS1L 81405,81479
BOLA3 81479,81479
C1QBP 81479,81479
CA5A 81479,81479
CARS2 81479,81479
CHKB 81479,81479
CLPB 81479,81479
COA3 81479,81479
COA5 81479,81479
COA6 81479,81479
COA7 81479,81479
COA8 81479,81479
COQ2 81479,81479
COQ4 81479,81479
COQ5 81479,81479
COQ6 81479,81479
COQ7 81479,81479
COQ8A 81479,81479
COQ8B 81479,81479
COQ9 81479,81479
COX10 81405,81479
COX14 81479,81479
COX15 81405,81479
COX20 81479,81479
COX4I1 81479,81479
COX5A 81479,81479
COX6A1 81479,81479
COX6B1 81404,81479
COX7B 81479,81479
COX8A 81479,81479
CYC1 81479,81479
DARS2 81479,81479
DGUOK 81405,81479
DLAT 81406,81479
DLD 81406,81479
DNA2 81479,81479
DNAJC19 81479,81479
DNM1L 81479,81479
EARS2 81479,81479
ECHS1 81479,81479
ELAC2 81479,81479
ETFA 81479,81479
ETFB 81479,81479
ETFDH 81479,81479
ETHE1 81479,81479
FARS2 81479,81479
FASTKD2 81406,81479
FBXL4 81479,81479
FDX2 81479,81479
FDXR 81479,81479
FH 81479,81479
FLAD1 81479,81479
FOXRED1 81479,81479
GARS1 81406,81479
GATB 81479,81479
GATC 81479,81479
GFER 81479,81479
GFM1 81479,81479
GFM2 81479,81479
GLRX5 81479,81479
GTPBP3 81479,81479
HADHA 81406,81479
HADHB 81406,81479
HARS2 81479,81479
HIBCH 81479,81479
HLCS 81406,81479
HMGCL 81479,81479
HMGCS2 81479,81479
HSD17B10 81479,81479
HSPD1 81479,81479
HTRA2 81479,81479
IARS1 81479,81479
IARS2 81479,81479
IBA57 81479,81479
ISCA1 81479,81479
ISCA2 81479,81479
ISCU 81479,81479
KARS1 81479,81479
LARS2 81479,81479
LIAS 81479,81479
LIPT1 81479,81479
LONP1 81479,81479
LRPPRC 81479,81479
LYRM4 81479,81479
LYRM7 81479,81479
MARS2 81479,81479
MDH2 81479,81479
MECR 81479,81479
MFF 81479,81479
MFN2 81406,81479
MGME1 81479,81479
MICOS13 81479,81479
MIPEP 81479,81479
MPC1 81479,81479
MPV17 81405,81404
MRM2 81479,81479
MRPL12 81479,81479
MRPL3 81479,81479
MRPL44 81479,81479
MRPS14 81479,81479
MRPS16 81479,81479
MRPS2 81479,81479
MRPS22 81479,81479
MRPS23 81479,81479
MRPS34 81479,81479
MRPS7 81479,81479
MTFMT 81479,81479
MTO1 81479,81479
MTPAP 81479,81479
MTRFR 81479,81479
NADK2 81479,81479
NARS2 81479,81479
NAXE 81479,81479
NDUFA1 81404,81479
NDUFA10 81479,81479
NDUFA11 81479,81479
NDUFA12 81479,81479
NDUFA13 81479,81479
NDUFA2 81479,81479
NDUFA4 81479,81479
NDUFA9 81479,81479
NDUFAF1 81479,81479
NDUFAF2 81404,81479
NDUFAF3 81479,81479
NDUFAF4 81479,81479
NDUFAF5 81479,81479
NDUFAF6 81479,81479
NDUFAF8 81479,81479
NDUFB10 81479,81479
NDUFB11 81479,81479
NDUFB3 81479,81479
NDUFB8 81479,81479
NDUFB9 81479,81479
NDUFS1 81406,81479
NDUFS2 81479,81479
NDUFS3 81479,81479
NDUFS4 81404,81479
NDUFS6 81479,81479
NDUFS7 81405,81479
NDUFS8 81405,81479
NDUFV1 81405,81479
NDUFV2 81479,81479
NDUFV3 81479,81479
NFS1 81479,81479
NFU1 81479,81479
NSUN3 81479,81479
NUBPL 81479,81479
OPA1 81407,81406
OPA3 81479,81479
OXA1L 81479,81479
PARS2 81479,81479
PC 81406,81479
PCCA 81406,81405
PCCB 81406,81479
PDHA1 81406,81405
PDHB 81405,81479
PDHX 81406,81479
PDP1 81479,81479
PDSS1 81479,81479
PDSS2 81479,81479
PET100 81479,81479
PET117 81479,81479
PMPCB 81479,81479
PNPLA4 81479,81479
PNPLA8 81479,81479
PNPT1 81479,81479
POLG 81406,81479
POLG2 81479,81479
PPA2 81479,81479
PTCD3 81479,81479
PUS1 81479,81479
QRSL1 81479,81479
RARS1 81479,81479
RARS2 81479,81479
RMND1 81479,81479
RNASEH1 81479,81479
RRM2B 81405,81479
RTN4IP1 81479,81479
SARS2 81479,81479
SCO1 81405,81479
SCO2 81404,81479
SDHA 81479,81479
SDHAF1 81479,81479
SDHB 81405,81479
SDHD 81404,81479
SERAC1 81479,81479
SFXN4 81479,81479
SLC19A2 81479,81479
SLC19A3 81479,81479
SLC22A5 81405,81479
SLC25A1 81479,81479
SLC25A13 81479,81479
SLC25A19 81479,81479
SLC25A20 81405,81404
SLC25A26 81479,81479
SLC25A3 81479,81479
SLC25A38 81479,81479
SLC25A4 81404,81479
SLC25A42 81479,81479
SLC25A46 81479,81479
SPG7 81406,81405
SUCLA2 81479,81479
SUCLG1 81479,81479
SURF1 81405,81479
TACO1 81404,81479
TAFAZZIN 81406,81479
TARS2 81479,81479
TFAM 81479,81479
TIMM22 81479,81479
TIMM50 81479,81479
TIMM8A 81479,81479
TIMMDC1 81479,81479
TK2 81405,81479
TMEM126B 81479,81479
TMEM65 81479,81479
TMEM70 81479,81479
TPK1 81479,81479
TRIT1 81479,81479
TRMT10C 81479,81479
TRMT5 81479,81479
TRMU 81479,81479
TRNT1 81479,81479
TSFM 81479,81479
TTC19 81479,81479
TUFM 81479,81479
TWNK 81404,81479
TYMP 81405,81479
UQCC2 81479,81479
UQCC3 81479,81479
UQCRB 81479,81479
UQCRC2 81479,81479
UQCRQ 81479,81479
VARS2 81479,81479
WARS2 81479,81479
XPNPEP3 81479,81479
YARS2 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
5077Genes x (251)81479 81404, 81405, 81406, 81407, 81479 $1530 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our PGxome Custom Panel tool.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

For Reflex to PGxome pricing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Disorders of mitochondrial energy metabolism, or oxidative phosphorylation (OXPHOS) disorders, are characterized by reduced activity of one (isolated) or more (combined) mitochondrial respiratory chain enzyme complexes. Mitochondrial disorders are clinically heterogeneous, and phenotypes, which range in severity and progression, can involve single or multiple organ systems. As OXPHOS defects cripple the body’s ability to produce adequate energy, organ systems with high metabolic demands (the heart, brain, and muscle) are often most severely affected (Ghezzi and Zeviani. 2018. PubMed ID: 30030362). Lactic acidosis of the blood and/or cerebrospinal fluid is often a prevailing symptom (Chinnery. 2014. PubMed ID: 20301403).

Clinical presentations of OXPHOS disorders may include but are not limited to: fatal infantile lactic acidosis (FILA), isolated myopathy, encephalomyopathy, encephalocardiomyopathy, neurogastrointestinal encephalomyopathy, hepatopathy, nephropathy, hypertrophic cardiomyopathy, hypotonia, seizures, ataxia, progressive external ophthalmoplegia (PEO), exercise intolerance, ptosis, optic atrophy, sensorineural deafness, and/or Leigh or Leigh-like syndrome (Chinnery. 2014. PubMed ID: 20301403; Ghezzi and Zeviani. 2018. PubMed ID: 30030362). Leigh syndrome is a hallmark clinical presentation characterized by a combination of lactic acidosis, psychomotor delay or regression, neurologic manifestations such as hypotonia or ataxia, and bilateral symmetric necrotic lesions in the basal ganglia, brain stem, thalamus, and/or spinal cord (Wedatilake et al. 2013. PubMed ID: 23829769; Leigh. 1951. PubMed ID: 14874135).

Prevalence of OXPHOS deficiency in the general population has been reported to be ~1:8,500 live births (Chinnery. 2014. PubMed ID: 20301403). Age at onset varies widely, but neonatal or early childhood presentations are the most common (Ghezzi and Zeviani. 2018. PubMed ID: 30030362). However, adult-onset has also been described, and symptoms in older cohorts can include ataxia, spasticity, muscle weakness, neuropathy, dementia, cerebellar atrophy, leukoencephalopathy, and/or retinitis pigmentosa, among others (Boczonadi et al. 2018. PubMed ID: 29980628).

At the present time, there are limited treatment options available to individuals with mitochondrial disorders, and management of these diseases is primarily supportive. Molecular diagnosis may help access recurrence risks, as well as allow for appropriate screening for potential future symptoms. Oral administration of certain supplements (e.g., riboflavin for complex I and/or complex II deficiencies) has been shown to have some benefit in certain cases (Udhayabanu et al. 2017. PubMed ID: 28475111).  

Genetics

Pathogenic variants in over 250 genes, both nuclear and mitochondrial, have been described; however, more than 1000 genes encoding mitochondrial proteins have been documented, and more of these are likely involved in disease than have been reported to date (Chinnery. 2014. PubMed ID: 20301403; Craven et al. 2017. PubMed ID: 28415858). While the majority of reported genes encode for structural or assembly components of the mitochondrial respiratory complexes, causative variants in a number of genes involved in mitochondrial replication, transcription, or translation may also result in primary OXPHOS disorders, in addition to genes that function in cofactor biosynthesis or ubiquinone (coenzyme Q10) synthesis (Ghezzi and Zeviani. 2018. PubMed ID: 30030362). In addition, secondary OXPHOS dysfunction may result from defects in genes involved in fatty acid oxidation such as HADHA/HADHB or ECHS1, among others (Nsiah-Sefaa and McKenzie. 2016. PubMed ID: 26839416).

This panel covers genes encoded by nuclear DNA (>240) that have been previously associated with oxidative phosphorylation deficiency. Genes located in the mitochondrial genome are currently not included in this panel.

Disorders of oxidative phosphorylation may be inherited in an autosomal recessive, autosomal dominant, X-linked, or maternally-inherited manner, although the majority of genes located in the nuclear genome exhibit autosomal recessive inheritance. Known or suspected modes of inheritance for the genes in this panel are listed below.

Autosomal recessive: AARS2, ACAD9, ACAT1, ACO2, AFG3L2, AGK, APTX, ATP5F1A, ATP5F1D, ATP5F1E, ATP7B, ATPAF2, BCS1L, BOLA3, C12orf65, C1QBP, CA5A, CARS2, CHKB, CLPB, COA3, COA5, COA6, COA7, COA8/APOPT1, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX4I1, COX10, COX14, COX15, COX20, COX5A, COX6A1, COX6B1, COX8A, CYC1, DARS2, DGUOK, DLAT, DLD, DNA2, DNAJC19, DNM1L, EARS2, ECHS1, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FDX2, FDXR, FH, FLAD1, FOXRED1, GATB, GATC, GFER, GFM1, GFM2, GLRX5, GTPBP3, HADHA, HADHB, HARS2, HIBCH, HLCS, HMGCL, HMGCS2, HSPD1, HTRA2, IARS1/IARS, IARS2, IBA57, ISCA1, ISCA2, ISCU, KARS1, LARS2, LIAS, LIPT1, LONP1, LRPPRC, LYRM4, LYRM7, MARS2, MDH2. MECR, MFF, MGME1, MICOS13, MIPEP, MPC1, MPV17, MRM2, MRPL12, MRPL3, MRPL44, MRPS14, MRPS16, MRPS2, MRPS22, MRPS23, MRPS34, MRPS7, MTFMT, MTO1, MTPAP, NADK2, NARS2, NAXE, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB10, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFS1, NFU1, NSUN3, NUBPL, OPA1, OPA3, OXA1L, PARS2, PC, PCCA, PCCB, PDHB, PDHX, PDP1, PDSS1, PDSS2, PET100, PET117, PMPCB, PNPLA8, PNPT1, POLG, POLG2, PPA2, PTCD3, PUS1, QRSL1, RARS1, RARS2, RMND1, RNASEH1, RRM2B, RTN4IP1, SARS2, SCO1, SCO2, SDHA, SDHAF1, SDHD, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A13, SLC25A19, SLC25A20, SLC25A26, SLC25A3, SLC25A38, SLC25A42, SLC25A46, SPG7, SUCLA2, SUCLG1, SURF1, TACO1, TARS2, TFAM, TIMM22, TIMM50, TIMMDC1, TK2, TMEM126B, TMEM65, TMEM70, TPK1, TRIT1, TRMT10C, TRMT5, TRNT1, TSFM, TTC19, TUFM, TWNK, TYMP, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, VARS2, WARS2, XPNPEP3, YARS2

Autosomal dominant: COQ2, DNM1L, GARS1/GARS, HSPD1, MFN2, POLG, POLG2, SDHA, SDHB, SDHD, SLC25A4, SPG7, TWNK

X-linked: ABCB7, AIFM1, ALAS2, COX7B, HSD17B10, NDUFA1, NDUFB11, PDHA1, PNPLA4TAZ, TIMM8A

For the majority of genes on this panel, large copy number variants (gross deletions or duplications/insertions) are a rare cause of disease. Exceptions to this may include OPA1, ATP7B, PCCA, PDHA1, SPG7, and TAZ.

See individual gene summaries for more information about molecular biology of gene products and spectra of pathogenic variants. 

Clinical Sensitivity - Sequencing with CNV PGxome

As no large cohort has been described to date that has been tested for this subset of genes, clinical sensitivity is difficult to estimate.

In terms of isolated complex deficiencies, a few studies have been reported. Approximately 25% of complex I (CI)-deficient patients were found to harbor defects in nuclear-encoded genes, while another ~25% carry a pathogenic variant in a mitochondrial-encoded gene (Fassone and Rahman. 2012. PubMed ID: 22972949). In patients with a molecular diagnosis of complex I deficiency, ~60% have defects in genes that encode core subunits of CI, while the remaining ~40% have defects in genes that encode accessory subunits.

Isolated complex II deficiency is considered a rare form of mitochondrial disease, accounting for approximately 2-23% of all respiratory chain deficiencies (biochemical diagnosis only; Parfait et al. 2000. PubMed ID: 10746566; Vladutiu and Heffner. 2000. PubMed ID: 11100052).

Isolated complex III deficiency accounted for approximately 5% of all oxidative phosphorylation (OXPHOS) disorders in one cohort (biochemical diagnosis only; Skladal et al. 2003. PubMed ID: 14601919).

Clinical sensitivity is expected to be higher in individuals of certain ancestries due to founder effects. For example, in a group of patients with French-Canadian Leigh syndrome (LS) and complex IV deficiency, 56/56 (100%) harbored pathogenic variants in LRPPRC; with one exception, all patients were homozygous for the p.Ala354Val change (Debray et al. 2011. PubMed ID: 21266382). In a different cohort of complex IV-deficient patients, 47 (~26%) carried causative variants in SURF1, primarily due to the Slavic founder variant (p.Ser282Cysfs*9; Bohm et al. 2006. PubMed ID: 16326995).

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel typically provides 99.3% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Indications for Test

Patients who present with oxidative phosphorylation defects (either isolated or combined), lactic acidosis, and/or a clinical presentation that is suggestive of a mitochondrial disorder would be good candidates for this test.

Genes

Official Gene Symbol OMIM ID
AARS2 612035
ABCB7 300135
ACAD9 611103
ACAT1 607809
ACO2 100850
AFG3L2 604581
AGK 610345
AIFM1 300169
ALAS2 301300
APTX 606350
ATP5F1A 164360
ATP5F1D 603150
ATP5F1E 606153
ATP7B 606882
ATPAF2 608918
BCS1L 603647
BOLA3 613183
C1QBP 601269
CA5A 114761
CARS2 612800
CHKB 612395
CLPB 616254
COA3 614775
COA5 613920
COA6 614772
COA7 615623
COA8 616003
COQ2 609825
COQ4 612898
COQ5 616359
COQ6 614647
COQ7 601683
COQ8A 606980
COQ8B 615567
COQ9 612837
COX10 602125
COX14 614478
COX15 603646
COX20 614698
COX4I1 123864
COX5A 603773
COX6A1 602072
COX6B1 124089
COX7B 603792
COX8A 123870
CYC1 123980
DARS2 610956
DGUOK 601465
DLAT 608770
DLD 238331
DNA2 601810
DNAJC19 608977
DNM1L 603850
EARS2 612799
ECHS1 602292
ELAC2 605367
ETFA 608053
ETFB 130410
ETFDH 231675
ETHE1 608451
FARS2 611592
FASTKD2 612322
FBXL4 605654
FDX2 614585
FDXR 103270
FH 136850
FLAD1 610595
FOXRED1 613622
GARS1 600287
GATB 603645
GATC 617210
GFER 600924
GFM1 606639
GFM2 606544
GLRX5 609588
GTPBP3 608536
HADHA 600890
HADHB 143450
HARS2 600783
HIBCH 610690
HLCS 609018
HMGCL 613898
HMGCS2 600234
HSD17B10 300256
HSPD1 118190
HTRA2 606441
IARS1 600709
IARS2 612801
IBA57 615316
ISCA1 611006
ISCA2 615317
ISCU 611911
KARS1 601421
LARS2 604544
LIAS 607031
LIPT1 610284
LONP1 605490
LRPPRC 607544
LYRM4 613311
LYRM7 615831
MARS2 609728
MDH2 154100
MECR 608205
MFF 614785
MFN2 608507
MGME1 615076
MICOS13 616658
MIPEP 602241
MPC1 614738
MPV17 137960
MRM2 606906
MRPL12 602375
MRPL3 607118
MRPL44 611849
MRPS14 611978
MRPS16 609204
MRPS2 611971
MRPS22 605810
MRPS23 611985
MRPS34 611994
MRPS7 611974
MTFMT 611766
MTO1 614667
MTPAP 613669
MTRFR 613541
NADK2 615787
NARS2 612803
NAXE 608862
NDUFA1 300078
NDUFA10 603835
NDUFA11 612638
NDUFA12 614530
NDUFA13 609435
NDUFA2 602137
NDUFA4 603833
NDUFA9 603834
NDUFAF1 606934
NDUFAF2 609653
NDUFAF3 612911
NDUFAF4 611776
NDUFAF5 612360
NDUFAF6 612392
NDUFAF8 618461
NDUFB10 603843
NDUFB11 300403
NDUFB3 603839
NDUFB8 602140
NDUFB9 601445
NDUFS1 157655
NDUFS2 602985
NDUFS3 603846
NDUFS4 602694
NDUFS6 603848
NDUFS7 601825
NDUFS8 602141
NDUFV1 161015
NDUFV2 600532
NDUFV3 602184
NFS1 603485
NFU1 608100
NSUN3 617491
NUBPL 613621
OPA1 605290
OPA3 606580
OXA1L 601066
PARS2 612036
PC 608786
PCCA 232000
PCCB 232050
PDHA1 300502
PDHB 179060
PDHX 608769
PDP1 605993
PDSS1 607429
PDSS2 610564
PET100 614770
PET117 614771
PMPCB 603131
PNPLA4 300102
PNPLA8 612123
PNPT1 610316
POLG 174763
POLG2 604983
PPA2 609988
PTCD3 614918
PUS1 608109
QRSL1 617209
RARS1 107820
RARS2 611524
RMND1 614917
RNASEH1 604123
RRM2B 604712
RTN4IP1 610502
SARS2 612804
SCO1 603644
SCO2 604272
SDHA 600857
SDHAF1 612848
SDHB 185470
SDHD 602690
SERAC1 614725
SFXN4 615564
SLC19A2 603941
SLC19A3 606152
SLC22A5 603377
SLC25A1 190315
SLC25A13 603859
SLC25A19 606521
SLC25A20 613698
SLC25A26 611037
SLC25A3 600370
SLC25A38 610819
SLC25A4 103220
SLC25A42 610823
SLC25A46 610826
SPG7 602783
SUCLA2 603921
SUCLG1 611224
SURF1 185620
TACO1 612958
TAFAZZIN 300394
TARS2 612805
TFAM 600438
TIMM22 607251
TIMM50 607381
TIMM8A 300356
TIMMDC1 615534
TK2 188250
TMEM126B 615533
TMEM65 616609
TMEM70 612418
TPK1 606370
TRIT1 617840
TRMT10C 615423
TRMT5 611023
TRMU 610230
TRNT1 612907
TSFM 604723
TTC19 613814
TUFM 602389
TWNK 606075
TYMP 131222
UQCC2 614461
UQCC3 616097
UQCRB 191330
UQCRC2 191329
UQCRQ 612080
VARS2 612802
WARS2 604733
XPNPEP3 613553
YARS2 610957
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
2,4-dienoyl-CoA reductase deficiency AR 616034
2-Methyl-3-Hydroxybutyric Aciduria XL 300438
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency AR 246450
3-Methylglutaconic Aciduria Type 2 XL 302060
3-Methylglutaconic Aciduria Type 3 AR 258501
3-Methylglutaconic Aciduria Type V AR 610198
3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-like Syndrome AR 614739
3-methylglutaconic aciduria, type IX AR 617698
3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia AR 616271
3-methylglutaconic aciduria, type VIII AR 617248
Adult Onset Ataxia With Oculomotor Apraxia AR 208920
Alpha-Methylacetoacetic Aciduria AR 203750
Amish Lethal Microcephaly AR 607196
Anemia Sideroblastic And Spinocerebellar Ataxia XL 301310
Anemia, sideroblastic, 3, pyridoxine-refractory AR 616860
Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive AR 205950
Auditory neuropathy and optic atrophy AR 617717
Basal Ganglia Disease, Biotin-Responsive AR 607483
Behr Syndrome AR 210000
Beta-Hydroxyisobutyryl-CoA Deacylase Deficiency AR 250620
Bjornstad Syndrome AR 262000
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 1 AR 604377
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 2 AR 615119
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 3 AR 616500
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 4 AR 616501
Cardiomyopathy, Dilated, 1gg AR 613642
Carnitine-Acylcarnitine Translocase Deficiency AR 212138
Cataract 38 AR 614691
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia AR 616007
Charcot-Marie-Tooth Disease Type 2D AD 601472
Charcot-Marie-Tooth disease, axonal, type 2A2B AR 617087
Charcot-Marie-Tooth disease, axonal, type 2EE AR 618400
Charcot-Marie-Tooth Disease, Recessive Intermediate B AR 613641
Charcot-Marie-Tooth Disease, Recessive Intermediate D AR 616039
Charcot-Marie-Tooth Disease, Type 2A2 AD 609260
Charcot-Marie-Tooth Disease, Type 4K AR 616684
Citrin Deficiency AR 605814
Citrullinemia Type II AR 603471
CODAS syndrome AR 600373
Coenzyme Q10 Deficiency AR 607426
Coenzyme Q10 Deficiency, Primary, 2 AR 614651
Coenzyme Q10 deficiency, primary, 3 AR 614652
Coenzyme Q10 Deficiency, Primary, 4 AR 612016
Coenzyme Q10 Deficiency, Primary, 5 AR 614654
Coenzyme Q10 deficiency, primary, 6 AR 614650
Coenzyme Q10 Deficiency, Primary, 7 AR 616276
Coenzyme Q10 Deficiency, Primary, 8 AR 616733
Combined D-2- and L-2-HydroxyGlutaric Aciduria AR 615182
Combined Oxidative Phosphorylation Deficiency 1 AR 609060
Combined Oxidative Phosphorylation Deficiency 10 AR 614702
Combined Oxidative Phosphorylation Deficiency 11 AR 614922
Combined Oxidative Phosphorylation Deficiency 12 AR 614924
Combined Oxidative Phosphorylation Deficiency 13 AR 614932
Combined oxidative phosphorylation deficiency 14 AR 614946
Combined Oxidative Phosphorylation Deficiency 15 AR 614947
Combined Oxidative Phosphorylation Deficiency 16 AR 615395
Combined Oxidative Phosphorylation Deficiency 17 AR 615440
Combined Oxidative Phosphorylation Deficiency 18 AR 615578
Combined Oxidative Phosphorylation Deficiency 19 AR 615595
Combined Oxidative Phosphorylation Deficiency 2 AR 610498
Combined Oxidative Phosphorylation Deficiency 20 AR 615917
Combined Oxidative Phosphorylation Deficiency 21 AR 615918
Combined Oxidative Phosphorylation Deficiency 22 AR 616045
Combined Oxidative Phosphorylation Deficiency 23 AR 616198
Combined Oxidative Phosphorylation Deficiency 24 AR 616239
Combined Oxidative Phosphorylation Deficiency 25 AR 616430
Combined Oxidative Phosphorylation Deficiency 26 AR 616539
Combined Oxidative Phosphorylation Deficiency 27 AR 616672
Combined oxidative phosphorylation deficiency 28 AR 616794
Combined Oxidative Phosphorylation Deficiency 3 AR 610505
Combined Oxidative Phosphorylation Deficiency 30 AR 616974
Combined oxidative phosphorylation deficiency 31 AR 617228
Combined oxidative phosphorylation deficiency 32 AR 617664
Combined oxidative phosphorylation deficiency 33 AR 617713
Combined Oxidative Phosphorylation Deficiency 34 AR 617872
Combined Oxidative Phosphorylation Deficiency 35 AR 617873
Combined oxidative phosphorylation deficiency 36 AR 617950
Combined oxidative phosphorylation deficiency 37 AR 618329
Combined oxidative phosphorylation deficiency 38 AR 618378
Combined oxidative phosphorylation deficiency 39 AR 618397
Combined Oxidative Phosphorylation Deficiency 4 AR 610678
Combined oxidative phosphorylation deficiency 40 AR 618835
Combined oxidative phosphorylation deficiency 41 AR 618838
Combined oxidative phosphorylation deficiency 42 AR 618839
Combined oxidative phosphorylation deficiency 43 AR 618851
Combined oxidative phosphorylation deficiency 44 AR 618855
Combined Oxidative Phosphorylation Deficiency 5 AR 611719
Combined Oxidative Phosphorylation Deficiency 6 XL 300816
Combined Oxidative Phosphorylation Deficiency 7 AR 613559
Combined Oxidative Phosphorylation Deficiency 8 AR 614096
Combined Oxidative Phosphorylation Deficiency 9 AR 614582
Cowchock Syndrome XL 310490
Deafness, Aminoglycoside-Induced MT 580000
Deafness, autosomal recessive 70 AR 614934
Deafness, autosomal recessive 89 AR 613916
Deafness, autosomal recessive 94 AR 618434
Deafness, X-Linked 5 XL 300614
Dihydrolipoamide dehydrogenase deficiency AR 246900
Dominant Hereditary Optic Atrophy AD 165500
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities AR 617282
Encephalopathy due to defective mitochondrial and peroxisomal fission 2 AR 617086
Encephalopathy, Lethal, Due To Defective Mitochondrial And Peroxisomal Fission AR 614388
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy AR 617186
Epileptic Encephalopathy, Early Infantile, 51 AR 617339
Epileptic encephalopathy, early infantile, 75 AR 618437
Ethylmalonic Encephalopathy AR 602473
Fanconi renotubular syndrome 5 618913
Fumarase Deficiency AR 606812
Gastrointestinal Stromal Tumors AD 606764
Glaucoma, Normal Tension, Susceptibility To 606657
Glutaric Aciduria, Type 2 AR 231680
GRACILE Syndrome AR 603358
Hereditary Leiomyomatosis And Renal Cell Cancer AD 150800
Hereditary Sideroblastic Anemia XL 300751
Hydrops, lactic acidosis, and sideroblastic anemia AR 617021
Hyperammonemia due to carbonic anhydrase VA deficiency AR 615751
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis AR 613845
Infantile cerebellar-retinal degeneration AR 614559
Leigh Syndrome XL 256000
Leigh Syndrome, French Canadian Type AR 220111
Leukodystrophy, Hypomyelinating, 4 AR 612233
Leukodystrophy, Hypomyelinating, 9 AR 616140
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation AR 611105
Leukoencephalopathy, Progressive, with Ovarian Failure AR 615889
Linear Skin Defects with Multiple Congenital Anomalies 2 XL 300887
Linear skin defects with multiple congenital anomalies 3 XL 300952
Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency AR 255100
Lipoyltransferase 1 Deficiency AR 616299
Liver Failure Acute Infantile AR 613070
Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency AR 609016
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression AR 618416
Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency AR 605911
Mitochondrial Complex I Deficiency AR 252010
Mitochondrial Complex I Deficiency due to ACAD9 Deficiency AR 611126
Mitochondrial complex I deficiency, nuclear type 10 AR 618233
Mitochondrial complex I deficiency, nuclear type 11 AR 618234
Mitochondrial complex I deficiency, nuclear type 12 XL 301020
Mitochondrial complex I deficiency, nuclear type 13 AR 618235
Mitochondrial complex I deficiency, nuclear type 14 AR 618236
Mitochondrial complex I deficiency, nuclear type 15 AR 618237
Mitochondrial complex I deficiency, nuclear type 16 AR 618238
Mitochondrial complex I deficiency, nuclear type 17 AR 618239
Mitochondrial complex I deficiency, nuclear type 18 AR 618240
Mitochondrial complex I deficiency, nuclear type 19 AR 618241
Mitochondrial complex I deficiency, nuclear type 2 AR 618222
Mitochondrial complex I deficiency, nuclear type 21 AR 618242
Mitochondrial complex I deficiency, nuclear type 22 AR 618243
Mitochondrial complex I deficiency, nuclear type 23 AR 618244
Mitochondrial complex I deficiency, nuclear type 24 AR 618245
Mitochondrial complex I deficiency, nuclear type 25 AR 618246
Mitochondrial complex I deficiency, nuclear type 26 AR 618247
Mitochondrial complex I deficiency, nuclear type 27 AR 618248
Mitochondrial complex I deficiency, nuclear type 28 AR 618249
Mitochondrial complex I deficiency, nuclear type 29 AR 618250
Mitochondrial complex I deficiency, nuclear type 3 AR 618224
Mitochondrial complex I deficiency, nuclear type 30 XL 301021
Mitochondrial complex I deficiency, nuclear type 31 AR 618251
Mitochondrial complex I deficiency, nuclear type 32 AR 618252
Mitochondrial complex I deficiency, nuclear type 34 AR 618776
Mitochondrial complex I deficiency, nuclear type 35 619003
Mitochondrial complex I deficiency, nuclear type 4 AR 618225
Mitochondrial complex I deficiency, nuclear type 5 AR 618226
Mitochondrial complex I deficiency, nuclear type 6 AR 618228
Mitochondrial complex I deficiency, nuclear type 7 AR 618229
Mitochondrial complex I deficiency, nuclear type 8 AR 618230
Mitochondrial complex I deficiency, nuclear type 9 AR 618232
Mitochondrial Complex II Deficiency AR 252011
Mitochondrial Complex III Deficiency AR 124000
Mitochondrial Complex III Deficiency, Nuclear Type 2 AR 615157
Mitochondrial Complex III Deficiency, Nuclear Type 3 AR 615158
Mitochondrial Complex III Deficiency, Nuclear Type 4 AR 615159
Mitochondrial Complex III Deficiency, Nuclear Type 5 AR 615160
Mitochondrial Complex III Deficiency, Nuclear Type 6 AR 615453
Mitochondrial Complex III Deficiency, Nuclear Type 7 AR 615824
Mitochondrial Complex III Deficiency, Nuclear Type 8 AR 615838
Mitochondrial Complex III Deficiency, Nuclear Type 9 AR 616111
Mitochondrial Complex IV Deficiency AR 220110
Mitochondrial complex V (ATP synthase) deficiency AR 618120
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 1 AR 604273
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 2 AR 614052
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 3 614053
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 4 AR 615228
Mitochondrial DNA depletion syndrome 11 AR 615084
Mitochondrial DNA Depletion Syndrome 12 (Cardiomyopathic Type) AR 615418
Mitochondrial DNA Depletion Syndrome 12A (Cardiomyopathic Type) AD AD 617184
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) AR 615471
Mitochondrial DNA Depletion Syndrome 14 (Encephalocardiomyopathic Type) AR 616896
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) AR 617156
Mitochondrial DNA depletion syndrome 16 (hepatic type) AR 618528
Mitochondrial DNA depletion syndrome 17 AR 618567
Mitochondrial DNA Depletion Syndrome 2 (Myopathic Type) AR 609560
Mitochondrial DNA Depletion Syndrome 4B, Mngie Type AR 613662
Mitochondrial DNA Depletion Syndrome 5 (Encephalomyopathic with or without Methylmalonic Aciduria) AR 612073
Mitochondrial DNA Depletion Syndrome 7 AR 271245
Mitochondrial DNA Depletion Syndrome 9 (Encephalomyopathic With Methylmalonic Aciduria) AR 245400
Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, With Renal Tubulopathy AR 612075
Mitochondrial DNA-Depletion Syndrome 3, Hepatocerebral AR 251880
Mitochondrial myopathy with lactic acidosis AR 251950
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy AR 251900
Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome AR 603041
Mitochondrial Phosphate Carrier Deficiency 610773
Mitochondrial Pyruvate Carrier Deficiency AR 614741
Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency AR 616277
Mohr-Tranebjaerg Syndrome XL 304700
Multiple Carboxylase Defiency, Early Onset AR 253270
Multiple Mitochondrial Dysfunctions Syndrome 1 AR 605711
Multiple Mitochondrial Dysfunctions Syndrome 2 AR 614299
Multiple Mitochondrial Dysfunctions Syndrome 3 AR 615330
Multiple Mitochondrial Dysfunctions Syndrome 4 AR 616370
Multiple mitochondrial dysfunctions syndrome 5 AR 617613
Multiple mitochondrial dysfunctions syndrome 6 AR 617954
Multiple system atrophy, susceptibility to AR 146500
Muscular Dystrophy, Congenital, Megaconial Type AR 602541
Myasthenic syndrome, congenital, 23, presynaptic AR 618197
Myopathy With Lactic Acidosis, Hereditary AR 255125
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 AR 613561
Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay 613076
Myopia 6 AD 608908
Navajo Neurohepatopathy AR 256810
Nephronophthisis-Like Nephropathy 1 AR 613159
Nephrotic syndrome, type 9 AR 615573
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures AR 617710
Neuropathy, Hereditary Motor and Sensory, Type VIA AD 601152
Neuropathy, Hereditary Motor and Sensory, Type VIB AR 616505
Optic Atrophy 10 with or without Ataxia, Mental Retardation, and Seizures AR 616732
Optic atrophy 5 AD 610708
Optic atrophy 9 AR 616289
Optic Atrophy And Cataract, Autosomal Dominant AD 165300
Optic Atrophy Type 1 AD 125250
Ovarian dysgenesis 7 AR 618117
Paraganglioma And Gastric Stromal Sarcoma 606864
Paragangliomas 1 AD 168000
Paragangliomas 4 AD 115310
Paragangliomas 5 AD 614165
Parkinson Disease 13 610297
Perrault Syndrome 2 AR 614926
Perrault Syndrome 4 AR 615300
Perrault Syndrome 5 AR 616138
Pheochromocytoma AD 171300
Pontocerebellar Hypoplasia Type 6 AR 611523
Portal hypertension, noncirrhotic AR 617068
Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions 1 AD 157640
Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Dominant, 2 AD 609283
Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Dominant, 3 AD 609286
Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Dominant, 4 AD 610131
Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Dominant, 5 AD 613077
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 AD 615156
Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Recessive AR 258450
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 2 AR 616479
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 AR 617069
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 AR 617070
Progressive Sclerosing Poliodystrophy AR 203700
Propionic Acidemia AR 606054
Protoporphyria, Erythropoietic, X-Linked XL 300752
Pyruvate Carboxylase Deficiency AR 266150
Pyruvate Dehydrogenase E1-Alpha Deficiency XL 312170
Pyruvate Dehydrogenase E1-Beta Deficiency 614111
Pyruvate Dehydrogenase E2 Deficiency AR 245348
Pyruvate Dehydrogenase E3-Binding Protein Deficiency AR 245349
Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency AR 614462
Pyruvate Dehydrogenase Phosphatase Deficiency AR 608782
Retinitis Pigmentosa and Erythrocytic Microcytosis AR 616959
Seckel syndrome 8 AR 615807
Sengers syndrome AR 212350
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis AR 607459
Sideroblastic Anemia And Mitochondrial Myopathy AR 600462
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay AR 616084
Spastic Ataxia 3 AR 611390
Spastic Ataxia 4, Autosomal Recessive AR 613672
Spastic ataxia 5, autosomal recessive AR 614487
Spastic Paraplegia 13 AD 605280
Spastic Paraplegia 55 AR 615035
Spastic Paraplegia 7 AR 607259
Spastic Paraplegia 74 AR 616451
Spastic Paraplegia 77 AR 617046
Spasticity, childhood-onset, with hyperglycinemia AR 616859
Spinocerebellar Ataxia 28 AD 610246
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 AR 618387
Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy XL 300232
Striatal Necrosis, Bilateral, And Progressive Polyneuropathy AR 613710
Sudden cardiac failure, alcohol-induced AR 617223
Sudden cardiac failure, infantile AR 617222
Systemic Carnitine Deficiency AR 212140
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) AR 614458
Thiamine Responsive Megaloblastic Anemia Syndrome AR 249270
Thyroid Cancer, Hurthle Cell 607464
Trifunctional Protein Deficiency AR 609015
Wilson's Disease AR 277900
{Prostate cancer, hereditary, 2, susceptibility to} 614731

Related Test

Name
PGxome®

Citations

  • Boczonadi et al. 2018. PubMed ID: 29980628
  • Böhm et al. 2006. PubMed ID: 16326995
  • Chinnery. 2014. PubMed ID: 20301403
  • Craven et al. 2017. PubMed ID: 28415858
  • Debray et al. 2011. PubMed ID: 21266382
  • Fassone and Rahman. 2012. PubMed ID: 22972949
  • Ghezzi and Zeviani. 2018. PubMed ID: 30030362
  • Leigh. 1951. PubMed ID: 14874135
  • Nsiah-Sefaa and McKenzie. 2016. PubMed ID: 26839416
  • Parfait et al. 2000. PubMed ID: 10746566
  • Skladal et al. 2003. PubMed ID: 14601919
  • Udhayabanu et al. 2017. PubMed ID: 28475111
  • Vladutiu and Heffner. 2000. PubMed ID: 11100052
  • Wedatilake et al. 2013. PubMed ID: 23829769

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