Combined Mito Genome Plus Mito Focused Nuclear Gene Panel

NY Approved

Test Overview

Clinical Utility

  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a mitochondrial disorder

Test Details

Genes

AARS2, ABCB7, ACAD9, ACO2, AFG3L2, AGK, AIFM1, ALAS2, APOPT1, ATP5A1, ATP5E, ATP7B, ATPAF2, AUH, BCS1L, BOLA3, C12orf65, C19orf12, CARS2, CLPB, COA6, COASY, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX15, COX20, COX6A1, COX6B1, 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, HARS2, HMGCL, HTRA2, IARS2, IBA57, ISCA2, ISCU, LAMP2, LARS, LARS2, LIAS, LIPT1, LRPPRC, LYRM4, LYRM7, MARS2, MFF, MFN2, MGME1, MICU1, MPC1, MPV17, MRPL3, MRPL44, MRPS16, MRPS22, MTFMT, MTO1, MTPAP, NARS2, NDUFA1, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB11, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, 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, UQCRB, UQCRC2, VARS2, WDR45, WFS1, YARS2

Conditions

  • 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
  • Diabetes and Hearing Loss
  • 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
  • Hypomyelinating Leukodystrophy
  • Infantile Liver Failure Syndrome
  • Jensen Syndrome
  • Kearns-Sayre Syndrome (KSS)
  • Lactic Acidemia
  • Lebers Hereditary Optic Neuropathy (LHON)
  • Leigh Syndrome
  • Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
  • Lipoyltransferase 1 Deficiency (LIPT1)
  • Maternally Inherited Deafness or Aminoglycoside-Induced Deafness
  • Maternally Inherited Diabetes and Deafness (MIDD)
  • Maternally Inherited Diabetes Mellitus (MIDM)
  • 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 Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS)
  • Mitochondrial Encephalopathy
  • Mitochondrial Muscle Myopathy
  • Mitochondrial Myopathy (MM)
  • Mitochondrial Neurogastrointestinal Encephalopathy Syndrome (MNGIE)
  • 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
  • Myoclonic Epilepsy with Ragged-Red Fibers (MERRF)
  • Nephrotic Syndrome
  • Neurodegeneration with Brain Iron Accumulation (NBIA)
  • Neurogenic Weakness with Ataxia and Retinitis Pigmentosa (NARP)
  • Nonsyndromic Low-Frequency Sensorineural Hearing Loss
  • Optic Atrophy
  • Ornithine Transcarbamylase Deficiency
  • Pearson Syndrome
  • 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

Lab Method

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering Information

Test Code: 615
CPT Codes*: 81440x1, 81460x1, 81465x1
ABN Required: No
Turnaround Time**: 6 weeks
Preferred Specimen: 2-5 mL Blood - Lavender Top Tube
Alternative Specimen: Buccal Swabs

*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.

**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.

Resources

Test Documents

Billing

Targeted Variant Testing

FAQs