Oxidative Phosphorylation (OXPHOS) Deficiency

Forms and Documents

Test Details

AARS, AARS2, ABCB11, ABCB4, ABCB7, ABCD4, ACAD9, ACADM, ACADVL, ACO2, ACSF3, ADCK3 (CABC1; COQ8), ADCK4, AFG3L2, AGK, AGL, AIFM1, ALAS2, ALDOA, ALDOB, ALG1, ALG11, ALG13, ALG2, ALG3, ALG6, ALG9, AMACR, APOPT1, APTX, ARG1, ASL, ASS1, ATP5A1, ATP5E, ATP7B, ATP8B1, ATPAF2 (ATP12), AUH, B4GALT1, BCKDHA, BCKDHB, BCS1L, BOLA3, C10ORF2, C12ORF65, C19orf12, CA5A, CARS2, CHKB, CISD2, CLPB, COA5 (C2ORF64), COA6, COASY, COG4, COG5, COG6, COG7, COG8, COQ2, COQ4, COQ6, COQ9, COX10, COX14 (C12ORF62), COX15, COX20 (FAM36A), COX4I2, COX6A1, COX6B1, COX7B, CPS1, CPT1A, CPT2, CYC1, DARS, DARS2, DBT, DDHD1, DDHD2, DDOST, DGUOK, DLAT, DLD, DMGDH, DNA2, DNAJC19, DNM1L, DNM2, DOLK, DPAGT1, DPM1, DPM3, EARS2, ECHS1, ELAC2, ENO3, ETFA, ETFB, ETFDH, ETHE1, FAH, FARS2, FASTKD2, FBP1, FBXL4, FDX1L, FH, FLAD1, FOXRED1, G6PC, GAA, GAMT, GARS, GATM, GBE1, GCDH, GFER, GFM1 (EFG1), GFM2, GLRX5, GMPPA, GSS, GTPBP3, GYG1, GYG2, GYS1, GYS2, HADHA, HADHB, HARS2, HCFC1, HIBCH, HLCS, HMGCL, HMGCS2, HSD17B10, HSPD1, IARS2, IBA57, ISCA2, ISCU, IVD, LAMP2, LARS, LARS2, LDHA, LIAS, LIPT1, LMBRD1, LRPPRC, LYRM4, LYRM7, MARS, MARS2, MCCC1, MCCC2, MCEE, MFF, MFN2, MGAT2, MGME1, MICU1, MLYCD, MMAA, MMAB, MMACHC, MMADHC (C2ORF25) , MOGS, MPC1 (BRP44L), MPDU1, MPI, MPV17, MRPL12, MRPL3, MRPL44, MRPS16, MRPS22, MRPS7, MTFMT, MTO1, MTPAP, MTR, MTRR, MUT, NADK2, NAGS, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3 (C3ORF60), NDUFAF4 (C6ORF66), NDUFAF5, NDUFAF6, NDUFAF7 (C2ORF56), NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFS1, NFU1, NGLY1, NR2F1, NUBPL, OPA1, OPA3, OTC, PARS2, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PET100, PFKM, PGAM2, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PMM2, PNPT1, POLG, POLG2, PRKAG2, PRPS1, PTRH2, PUS1, PYGM, QARS, RANBP2, RARS, RARS2, REEP1 (C2ORF23), RFT1, RMND1, RRM2B, SARS2, SCO1, SCO2, SDHA, SDHAF1, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3 (PHC), SLC25A38, SLC25A4, SLC2A2, SLC35A1, SLC35A2, SLC35C1, SLC37A4, SLC6A8, SLC7A7, SPAST, SPG7, SPTLC1, SRD5A3, SSR4, STT3A, STT3B, STXBP1, SUCLA2, SUCLG1, SURF1, TACO1, TARS2, TAZ, TIMM8A, TK2, TMEM126A, TMEM165, TMEM70, TPK1, TRIT1, TRMU, TRNT1, TSFM, TTC19, TUFM, TYMP, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, VARS2, WDR45, WFS1, YARS2
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a mitochondrial disorder
  • Prenatal diagnosis for known familial mutation(s) in nuclear genes in at-risk pregnancies.
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

573
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81440x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Tarnopolsky, M. A., and Raha, S. (2005) Med Sci Sports Exerc 37, 2086-93.
  2. van Adel, B. A., and Tarnopolsky, M. A. (2009) J Clin Neuromuscul Dis 10, 97-121.
  3. Zhu, X., Peng, X., Guan, M. X., and Yan, Q. (2009) Acta Biochim Biophys Sin (Shanghai) 41, 179-87.
  4. Chinnery, P. F. (1993(updated 2010)) GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.2000 Jun 08 [updated 2010 Sep 16].
  5. Bennett, S. (2004) Pharmacogenomics 5, 433-8.
  6. Oliveira, G., Diogo, L., Grazina, M., Garcia, P., Ataide, A., Marques, C., Miguel, T., Borges, L., Vicente, A. M., and Oliveira, C. R. (2005) Dev Med Child Neurol 47, 185-9.

Forms and Documents

Test Details

  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a mitochondrial disorder
  • Next-Gen Sequencing

Ordering

554
4 weeks
Tissue Biopsy (>50 mg Muscle or Liver-Flash Frozen)
2-5 mL Blood - Lavender Top Tube|Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81460x1, 81465x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Oliveira et al., (2005) Dev Med Child Neurol 47:185-189.
  2. Zhu et al., (2009) Acta Biochim Biophys Sin 41:179-187
  3. Chinnery, P. Gene Reviews (2006) Mitochondrial Disorders Overview.
  4. Tarnopolsky, M and Raha S. (2005) Med Sci Sports Exerc 37:2086-93.
  5. van Adel, B. and Tarnopolsky, M. (2009) J Clin Neuromusc Dis 10:97-121.
  6. Longo, N. (2003) Neurol Clin N Am 21:817- 831.
  7. Bennett S.(2004) Pharmacogenomics 5:433-8.
  8. Chinnery, P. Gene Reviews (2006) Mitochondrial Disorders Overview.
  9. Koenig MK. (2008) Pediatr Neurol, 38:305-313.
  10. Zeviani1 and Di Donato. (2004) Brain, 127: 2153–2172.

Forms and Documents

Test Details

AARS, AARS2, ABCB11, ABCB4, ABCB7, ABCD4, ACAD9, ACADM, ACADVL, ACO2, ACSF3, ADCK3 (CABC1; COQ8), ADCK4, AFG3L2, AGK, AGL, AIFM1, ALAS2, ALDOA, ALDOB, ALG1, ALG11, ALG13, ALG2, ALG3, ALG6, ALG9, AMACR, APOPT1, APTX, ARG1, ASL, ASS1, ATP5A1, ATP5E, ATP7B, ATP8B1, ATPAF2 (ATP12), AUH, B4GALT1, BCKDHA, BCKDHB, BCS1L, BOLA3, C10ORF2, C12ORF65, C19orf12, CA5A, CARS2, CHKB, CISD2, CLPB, COA5 (C2ORF64), COA6, COASY, COG4, COG5, COG6, COG7, COG8, COQ2, COQ4, COQ6, COQ9, COX10, COX14 (C12ORF62), COX15, COX20 (FAM36A), COX4I2, COX6A1, COX6B1, COX7B, CPS1, CPT1A, CPT2, CYC1, DARS, DARS2, DBT, DDHD1, DDHD2, DDOST, DGUOK, DLAT, DLD, DMGDH, DNA2, DNAJC19, DNM1L, DNM2, DOLK, DPAGT1, DPM1, DPM3, EARS2, ECHS1, ELAC2, ENO3, ETFA, ETFB, ETFDH, ETHE1, FAH, FARS2, FASTKD2, FBP1, FBXL4, FDX1L, FH, FLAD1, FOXRED1, G6PC, GAA, GAMT, GARS, GATM, GBE1, GCDH, GFER, GFM1 (EFG1), GFM2, GLRX5, GMPPA, GSS, GTPBP3, GYG1, GYG2, GYS1, GYS2, HADHA, HADHB, HARS2, HCFC1, HIBCH, HLCS, HMGCL, HMGCS2, HSD17B10, HSPD1, IARS2, IBA57, ISCA2, ISCU, IVD, LAMP2, LARS, LARS2, LDHA, LIAS, LIPT1, LMBRD1, LRPPRC, LYRM4, LYRM7, MARS, MARS2, MCCC1, MCCC2, MCEE, MFF, MFN2, MGAT2, MGME1, MICU1, MLYCD, MMAA, MMAB, MMACHC, MMADHC (C2ORF25) , MOGS, MPC1 (BRP44L), MPDU1, MPI, MPV17, MRPL12, MRPL3, MRPL44, MRPS16, MRPS22, MRPS7, MTFMT, MTO1, MTPAP, MTR, MTRR, MUT, NADK2, NAGS, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3 (C3ORF60), NDUFAF4 (C6ORF66), NDUFAF5, NDUFAF6, NDUFAF7 (C2ORF56), NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFS1, NFU1, NGLY1, NR2F1, NUBPL, OPA1, OPA3, OTC, PARS2, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PET100, PFKM, PGAM2, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PMM2, PNPT1, POLG, POLG2, PRKAG2, PRPS1, PTRH2, PUS1, PYGM, QARS, RANBP2, RARS, RARS2, REEP1 (C2ORF23), RFT1, RMND1, RRM2B, SARS2, SCO1, SCO2, SDHA, SDHAF1, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3 (PHC), SLC25A38, SLC25A4, SLC2A2, SLC35A1, SLC35A2, SLC35C1, SLC37A4, SLC6A8, SLC7A7, SPAST, SPG7, SPTLC1, SRD5A3, SSR4, STT3A, STT3B, STXBP1, SUCLA2, SUCLG1, SURF1, TACO1, TARS2, TAZ, TIMM8A, TK2, TMEM126A, TMEM165, TMEM70, TPK1, TRIT1, TRMU, TRNT1, TSFM, TTC19, TUFM, TYMP, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, VARS2, WDR45, WFS1, YARS2
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a mitochondrial disorder
  • Prenatal diagnosis for known familial mutation(s) in nuclear genes in at-risk pregnancies.
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

615
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81460x1, 81465x1, 81440x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Tarnopolsky, M. A., and Raha, S. (2005) Med Sci Sports Exerc 37, 2086-93.
  2. van Adel, B. A., and Tarnopolsky, M. A. (2009) J Clin Neuromuscul Dis 10, 97-121.
  3. Zhu, X., Peng, X., Guan, M. X., and Yan, Q. (2009) Acta Biochim Biophys Sin (Shanghai) 41, 179-87.
  4. Chinnery, P. F. (1993(updated 2010)) GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.2000 Jun 08 [updated 2010 Sep 16].
  5. Bennett, S. (2004) Pharmacogenomics 5, 433-8.
  6. Oliveira, G., Diogo, L., Grazina, M., Garcia, P., Ataide, A., Marques, C., Miguel, T., Borges, L., Vicente, A. M., and Oliveira, C. R. (2005) Dev Med Child Neurol 47, 185-9.

Forms and Documents

Test Details

Molecular confirmation of a clinical diagnosis
Testing of patients suspected of having a mitochondrial disorder
Prenatal diagnosis for known familial mutation(s) in nuclear genes in at-risk pregnancies.

  • Next-Gen Sequencing

Ordering

J809
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81440x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Oliveira, G., Diogo, L., Grazina, M., Garcia, P., Ataide, A., Marques, C., Miguel, T., Borges, L., Vicente, A. M., and Oliveira, C. R. (2005) Dev Med Child Neurol 47, 185-9.
  2. Chinnery, P. F. (1993(updated 2010)) GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.2000 Jun 08 [updated 2010 Sep 16].
  3. Tarnopolsky, M. A., and Raha, S. (2005) Med Sci Sports Exerc 37, 2086-93.
  4. van Adel, B. A., and Tarnopolsky, M. A. (2009) J Clin Neuromuscul Dis 10, 97-121.
  5. Zhu, X., Peng, X., Guan, M. X., and Yan, Q. (2009) Acta Biochim Biophys Sin (Shanghai) 41, 179-87.
  6. Bai R, Balog A, Higgs J, Retterer K, Arjona D, Juusola J, Vitazka P, Suchy S, Enns GM, Haas R, Goldstein A, Tarnopolsky M, Parikh S, Copeland WC, Niyazov D, Falk MJ, Chung WK, Bale S, Richard G. WES and WMGS for Molecular Diagnosis of Mitochondrial Disord
  7. Pronicka et al. (2016) J Transl Med 14 (1):174 (PMID: 27290639)
  8. Taylor et al. (2014) Jama 312 (1):68-77 (PMID: 25058219)
  9. Retterer et al. (2015) Genet. Med.: (PMID: 26633542)