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Test Details
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AARS2, ABCB7, ACAD9, ACO2, AFG3L2, AGK, AIFM1, ALAS2, APOPT1, ATP5A1, ATP5E, ATP7B, ATPAF2, AUH, BCS1L, BOLA3, C12ORF65, C19orf12, CARS2, CLPB, COA5, COA6, COASY, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX6A1, COX6B1, COX8A, CYC1, DARS2, DGUOK, DLAT, DLD, DNA2, DNAJC19, DNM1L, EARS2, ECHS1, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FDX1L, FH, FLAD1, FOXRED1, GARS, GCDH, GFER, GFM1, GFM2, GLRX5, GTPBP3, GYG2, HARS2, HMGCL, HTRA2, IARS2, IBA57, ISCA2, ISCU, LAMP2, LARS, LARS2, LIAS, LIPT1, LRPPRC, LYRM4, LYRM7, MARS2, MFF, MFN2, MGME1, MICU1, MPC1, MPV17, MRPL12, MRPL3, MRPL44, MRPS16, MRPS22, MRPS7, MTFMT, MTO1, MTPAP, 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, NFS1, NFU1, NR2F1, NUBPL, OPA1, OPA3, OTC, PARS2, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PET100, PNPT1, POLG, POLG2, PRKAG2, PUS1, QARS, RARS, RARS2, RMND1, RNASEH1, RRM2B, SARS2, SCO1, SCO2, SDHA, SDHAF1, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC22A5, SLC25A26, SLC25A3, SLC25A38, SLC25A4, SLC25A46, SPAST, SPG7, SUCLA2, SUCLG1, SURF1, TACO1, TARS2, TAZ, TFAM, TIMM8A, TK2, TMEM126A, TMEM126B, TMEM70, TPK1, TRIT1, TRMT10C, TRMU, TRNT1, TSFM, TTC19, TUFM, TWNK, TYMP, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, VARS2, WDR45, WFS1, YARS2
- Alpers syndrome (Alpers-Huttenlocher syndrome)
- Barth Syndrome
- Biotin-responsive Basal Ganglia Disease
- Bjornstad Syndrome
- Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
- Coenzyme Q10 (CoQ10) Deficiency
- Combined oxidative phosphorylation deficiency
- Cytochrome C Oxidase Deficiency
- Danon Disease
- Dihydrolipoamide Dehydrogenase Deficiency
- Encephalopathy due to defective mitochondrial and peroxisomal fission
- Ethylmalonic Encephalopathy
- Fumarase Deficiency
- Glutaric Aciduria Type II
- GRACILE Syndrome
- Hereditary Motor and Sensory Neuropathy (HMSN)
- Hereditary Myopathy with Lactic Acidosis
- HMG-CoA Lyase Deficiency
- Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome
- Hypomyelinating Leukodystrophy
- Infantile Liver Failure Syndrome
- Jensen Syndrome
- Lactic Acidemia
- Leigh Syndrome
- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
- Lipoyltransferase 1 Deficiency (LIPT1)
- Methylglutaconic Aciduria
- Mitochondrial Complex I Deficiency
- Mitochondrial Complex II Deficiency
- Mitochondrial Complex III Deficiency
- Mitochondrial Complex IV Deficiency
- Mitochondrial Complex V Deficiency
- Mitochondrial DNA Depletion Syndrome
- Mitochondrial Encephalopathy
- Mitochondrial Muscle Myopathy
- Mitochondrial Pyruvate Carrier Deficiency
- Mitochondrial Recessive Ataxia Syndrome (includes SANDO and SCAE)
- Mitochondrial Ribosomal Protein
- Mitochondrial Short-Chain Enoyl-CoA Hydratase-1 Deficiency (ECHS1D)
- Mohr-Tranebjaerg syndrome
- Multiple Mitochondrial Dysfunctions Syndrome
- Muscle Defects with Respiratory Insufficiency
- Myopathy, Lactic Acidosis, and Sideroblastic Anemia
- Nephrotic syndrome
- Neurodegeneration with Brain Iron Accumulation
- Nonsyndromic Low-Frequency Sensorineural Hearing Loss
- Optic Atrophy
- Ornithine Transcarbamylase Deficiency
- Perrault Syndrome
- Pontocerebellar Hypoplasia (PCH)
- Primary/Systemic Carnitine Deficiency
- Progressive External Ophthalmoplegia
- Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy
- Propionic Acidaemia
- Pyruvate Carboxylase Deficiency
- Pyruvate Dehydrogenase Deficiency
- Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency
- Sideroblastic Anemia
- Spastic Ataxia
- Spinocerebellar ataxia
- Thiamine-Responsive Megaloblastic Anemia Syndrome (TRMA)
- Wilson Disease
- Wolff-Parkinson-White Syndrome
- Wolfram Syndrome
- X-linked Erythropoietic Protoporphyria
- 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.
Ordering
573
6 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs
*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.
Billing
81440x1
Yes
Yes
For price inquiries please email zebras@genedx.com
**The CPT codes provided are based on AMA guidelines and 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.
**The CPT codes provided are based on AMA guidelines and 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.
References
- Oliveira et al. (2005) Dev Med Child Neurol 47 (3):185-9 (PMID: 15739723)
- Chinnery P. Mitochondrial Disorders Overview 2000 Jun 8 [Updated 2014 Aug 14]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.n
- Tarnopolsky et al. (2005) Med Sci Sports Exerc 37 (12):2086-93 (PMID: 16331134)
- van Adel et al. (2009) Journal Of Clinical Neuromuscular Disease 10 (3):97-121 (PMID: 19258857)
- Zhu et al. (2009) Acta Biochim. Biophys. Sin. (Shanghai) 41 (3):179-87 (PMID: 19280056)
- Koenig et al. (2008) Pediatr. Neurol. 38 (5):305-13 (PMID: 18410845)
- Zeviani et al. (2004) Brain 127 (Pt 10):2153-72 (PMID: 15358637)
- Taylor et al. (2014) JAMA 312 (1):68-77 (PMID: 25058219)