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Combined Mito Genome Plus Mito Focused Nuclear Gene Panel

New York
Approved


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

  • Danon Disease
  • Diabetes and Hearing Loss
  • Dihydrolipoamide Dehydrogenase Deficiency
  • Ethylmalonic Encephalopathy
  • Glutaric Aciduria Type II
  • Hereditary Motor and Sensory Neuropathy (HMSN)
  • HMG-CoA Lyase Deficiency
  • Alpers syndrome (Alpers-Huttenlocher syndrome)
  • Kearns-Sayre Syndrome (KSS)
  • Lebers Hereditary Optic Neuropathy (LHON)
  • Lipoyltransferase 1 Deficiency (LIPT1)
  • Maternally Inherited Deafness or Aminoglycoside-Induced Deafness
  • Maternally Inherited Diabetes and Deafness (MIDD)
  • Maternally Inherited Diabetes Mellitus (MIDM)
  • Mitochondrial DNA Depletion Syndrome
  • Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS)
  • Mitochondrial Myopathy (MM)
  • Mitochondrial Neurogastrointestinal Encephalopathy Syndrome (MNGIE)
  • Mitochondrial Short-Chain Enoyl-CoA Hydratase-1 Deficiency (ECHS1D)
  • Multiple Mitochondrial Dysfunctions Syndrome
  • Myoclonic Epilepsy with Ragged-Red Fibers (MERRF)
  • Neurogenic Weakness with Ataxia and Retinitis Pigmentosa (NARP)
  • Optic Atrophy
  • Pearson Syndrome
  • Pontocerebellar Hypoplasia (PCH)
  • Primary/Systemic Carnitine Deficiency
  • Pyruvate Carboxylase Deficiency
  • Sideroblastic Anemia
  • Spastic Ataxia
  • Thiamine-Responsive Megaloblastic Anemia Syndrome (TRMA)
  • Wilson Disease
  • Wolff-Parkinson-White Syndrome
  • Wolfram Syndrome
  • Perrault Syndrome
  • Mohr-Tranebjaerg syndrome
  • Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
  • Leigh Syndrome
  • Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
  • Encephalopathy due to defective mitochondrial and peroxisomal fission
  • Mitochondrial Encephalopathy
  • Combined oxidative phosphorylation deficiency
  • Mitochondrial Complex I Deficiency
  • Spinocerebellar Ataxia
  • X-linked Erythropoietic Protoporphyria
  • Mitochondrial Complex IV Deficiency
  • Mitochondrial Complex V Deficiency
  • Methylglutaconic Aciduria
  • Mitochondrial Complex III Deficiency
  • Bjornstad Syndrome
  • GRACILE Syndrome
  • Neurodegeneration with Brain Iron Accumulation (NBIA)
  • Coenzyme Q10 (CoQ10) Deficiency
  • Nephrotic Syndrome
  • Cytochrome C Oxidase Deficiency
  • Pyruvate Dehydrogenase Deficiency
  • Progressive External Ophthalmoplegia
  • Mitochondrial Muscle Myopathy
  • Fumarase Deficiency
  • Muscle Defects with Respiratory Insufficiency
  • Hereditary Myopathy with Lactic Acidosis
  • Infantile Liver Failure Syndrome
  • Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency
  • Mitochondrial Pyruvate Carrier Deficiency
  • Mitochondrial Ribosomal Protein
  • Ornithine Transcarbamylase Deficiency
  • Propionic Acidaemia
  • Lactic Acidemia
  • Mitochondrial Recessive Ataxia Syndrome (includes SANDO and SCAE)
  • Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy
  • Hypomyelinating Leukodystrophy
  • Mitochondrial Complex II Deficiency
  • Biotin-responsive Basal Ganglia Disease
  • Barth Syndrome
  • Jensen Syndrome
  • Nonsyndromic Low-Frequency Sensorineural Hearing Loss

Clinical Utility

  • 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

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

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.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.