Card kit

Invitae Nuclear Mitochondrial Disorders Panel

Test code: 98002 •

Test description

The Invitae Nuclear Mitochondrial Disorders Panel analyzes nuclear-encoded genes that are associated with mitochondrial dysfunction, including but not limited to deficiencies of oxidative phosphorylation, deficiencies of mitochondrial complexes, primary coenzyme Q10 deficiency, and multiple mitochondrial dysfunction syndromes. Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions.

Of note, this panel includes genes associated with adult-onset conditions, as well as, some genes that confer an increased risk for cancer (i.e. FH, IDH3B, SDHC).

Disorders tested

  • Progressive leukoencephalopathy with ovarian failure, Oxidative phosphorylation deficiency 8
  • Hyperlysinemia type I
  • GABA-transaminase deficiency
  • X-linked sideroblastic anemia and spinocerebellar ataxia
  • ACACA-related neurodevelopmental disorder
  • Mitochondrial complex I deficiency, nuclear type 20 (MCD1N20)
  • Medium chain acyl-CoA dehydrogenase deficiency
  • Short chain acyl-CoA dehydrogenase deficiency (SCAD)
  • Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency
  • Beta-ketothiolase deficiency
  • ACO2-related conditions
  • Aicardi Goutieres syndrome
  • Spinocerebellar ataxia 28, Spastic ataxia 5
  • Sengers syndrome, Non-syndromic congenital cataracts
  • X-linked spondylometaphyseal dysplasia with hypomyelinating leukodystrophy, X-linked combined oxidative phosphorylation deficiency 6
  • Reticular dysgenesis
  • X-linked sideroblastic anemia, X-linked erythropoietic protoporphyria
  • Sjögren-Larsson syndrome
  • Muscle AMP deaminase deficiency
  • Glycine encephalopathy
  • Mitochondrial complex IV deficiency, Cavitating leukodystrophy
  • Oculomotor apraxia type I (AOA1)
  • Combined oxidative phosphorylation deficiency 22, Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, Schizophrenia
  • Mitochondrial complex V (ATP synthase) deficiency nuclear type 5
  • Mitochondrial complex V (ATP synthase) deficiency nuclear type 3
  • Wilson disease
  • Mitochondrial complex V (ATP synthase) deficiency nuclear type 1
  • 3-Methylglutaconic aciduria type 1
  • Dilated cardiomyopathy (DCM), Myofibrillar myopathy 6 (MFM6), Charcot-Marie-Tooth disease type 2
  • BCS1L-related conditions
  • Multiple mitochondrial dysfunctions syndrome 2 (MMDS2)
  • Biotinidase deficiency
  • TWNK-related conditions:
    • Progressive external ophthalmoplegia with mitochondrial DNA deletions 3
    • Perrault syndrome 5
    • Mitochondrial DNA depletion syndrome 7 (Infantile-onset spinocerebellar ataxia)
  • Hereditary spastic paraplegia 55, Combined oxidative phosphorylation deficiency 7
  • Membrane protein-associated neurodegeneration (MPAN), Hereditary spastic paraplegia (HSP43/SPG43)
  • Combined oxidative phosphorylation deficiency 33
  • Carbonic anhydrase VA deficiency (CAVA)
  • Combined oxidative phosphorylation deficiency 27
  • Combined oxidative phosphorylation deficiency, Polycystic kidney disease
  • Congenital myasthenic syndrome 6
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Jokela type spinal muscular atrophy, CHCHD10-related isolated mitochondrial myopathy
  • 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia (MEGCANN)
  • Perrault syndrome 3
  • COA3-related mitochondrial complex IV deficiency
  • COA5-related cardioencephalomyopathy
  • Cardioencephalomyopathy due to mitochondrial complex IV deficiency
  • Spinocerebellar ataxia with axonal neuropathy-3
  • COASY protein-associated neurodegeneration (CoPan)
  • COQ8B-related nephrotic syndrome
  • Primary coenzyme Q10 deficiency
  • Complex IV deficiency
  • Pancreatic insufficiency-anemia-hyperostosis syndrome
  • Intermediate Charcot-Marie-Tooth disease D
  • Linear skin defects with multiple congenital anomalies
  • Carbamoyl phosphate synthetase 1 (CPS1) deficiency
  • Carnitine palmitoyltransferase 1 (CPT1)
  • Carnitine palmitoyltransferase 2 (CPT2)
  • CYC1-related cytochrome-c-oxidase (COX) deficiency
  • CYCS-related thrombocytopenia
  • D-2-hydroxyglutaric aciduria
  • Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
  • Myofibrillar myopathy 1 (MFM1), Dilated cardiomyopathy (DCM), Limb-girdle muscular dystrophy type 2R (LGMD2R)
  • DGUOK-related conditions
  • Pyruvate dehydrogenase E2 (PDHE2) deficiency
  • Dihydrolipoamide dehydrogenase deficiency (DLD)
  • DNA2-related progressive external ophthalmoplegia (PEO) with mitochondrial deletions, Seckel syndrome
  • 3-methylglutaconic aciduria type V
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 1 (EMPF1)
  • Combined oxidative phosphorylation deficiency 12
  • Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D)
  • Combined oxidative phosphorylation deficiency 17
  • Multiple acyl-CoA dehydrogenase deficiency (MADD) (Glutaric acidemia type II)
  • Ethylmalonic encephalopathy
  • Hereditary spastic paraplegia 77, Combined oxidative phosphorylation deficiency 14
  • Mitochondrial DNA depletion syndrome 13, encephalomyopathic type
  • FDX2-related mitochondrial myopathy
  • Fumarate hydratase deficiency
  • Multiple acyl-CoA dehydrogenase deficiency (MADD) due to flavin adenine dinucleotide synthetase deficiency
  • Mitochondrial complex I deficiency, nuclear type 19
  • Guanidinoacetate methyltransferase deficiency (GAMT)
  • Charcot-Marie-Tooth disease type 2D, Distal hereditary motor neuropathy 5
  • Cerebral creatine deficiency due to arginine:glycine amidinotransferase deficiency (AGAT)
  • Glutaric acidemia type I
  • GDAP1 related Charcot-Marie Tooth disease
  • GFER-related mitochondrial myopathy
  • Combined oxidative phosphorylation deficiency 1
  • Combined oxidative phosphorylation deficiency 39
  • Childhood-onset spasticity with hyperglycinemia (SPAHGC)
  • Combined oxidative phosphorylation deficiency 23
  • GYG2-related x-linked Leigh syndrome
  • Medium/Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (M/SCHAD)
  • HADHA-related conditions
  • Mitochondrial trifunctional protein deficiency (MTP)
  • HARS2-related Perrault syndrome
  • 3-hydroxy-3-methylglutaryl (HMG)-CoA lyase deficiency
  • 3-hydroxyisobutyryl-CoA hydrolase deficiency
  • Holocarboxylase synthetase deficiency
  • 3-hydroxy-3-methylglutaryl (HMG)-CoA synthase deficiency
  • 2-Methyl-3-hydroxybutyric aciduria
  • Hereditary spastic paraplegia 13, Hypomyelinating leukodystrophy 4 (MitCHAP60 disease)
  • HTRA2-related 3-methylglutaconic aciduria
  • Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS), Isolated pediatric cataracts
  • Multiple mitochondrial dysfunctions syndrome 3 (MMDS3)
  • D-2-hydroxyglutaric aciduria type 2
  • IDH3B-related disorders
  • Multiple mitochondrial dysfunctions syndrome 5 (MMDS5)
  • Multiple mitochondrial dysfunctions syndrome 4 (MMDS4)
  • Hereditary myopathy with lactic acidosis (HML)
  • Syndromic deafness with mitochondrial features
  • L-2-hydroxyglutaric aciduria
  • Danon disease
  • LARS-related infantile liver failure syndrome
  • LARS2-related Perrault syndrome, LARS2-related hydrops, lactic acidosis, and sideroblastic anemia
  • Hyperglycinemia, lactic acidosis and seizures (HGCLAS), Pyruvate dehydrogenase lipoic acid synthetase deficiency (PDHLD)
  • Lipoyltransferase 1 deficiency
  • Neonatal encephalopathy with lactic acidosis and brain anomalies (NELABA)
  • Methylmalonic aciduria with homocystinuria due to cobalamin F deficiency (MMAcblF)
  • Cerebral, ocular, dental, auricular and skeletal anomalies (CODAS) syndrome
  • Mitochondrial complex IV deficiency (French Canadian type Leigh syndrome)
  • LYRM4-related combined oxidative phosphorylation deficiency, LYRM4-related gyral pattern anomaly and speech and language disorder
  • Mitochondrial complex III deficiency, nuclear type 8
  • Combined oxidative phosphorylation deficiency 25, Spastic ataxia 3
  • Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities
  • Encephalopathy due to defective mitochondrial and peroxisomal fission (EMPF2)
  • Charcot-Marie-Tooth disease type 2A (CMT2A), Hereditary motor and sensory neuropathy type VIA
  • Mitochondrial hepato-encephalopathy
  • Myopathy with extrapyramidal sign
  • Combined oxidative phosphorylation deficiency 31
  • Mitochondrial pyruvate carrier deficiency (MPYCD)
  • Mitochondrial DNA depletion syndrome (MDS)
  • Combined oxidative phosphorylation deficiency 45
  • Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) with tetralogy of Fallot; Combined oxidative phosphorylation deficiency 9 (COXPD9)
  • MRPL40-related amyotrophic lateral sclerosis
  • Combined oxidative phosphorylation deficiency 16 (COXPD16)
  • Combined oxidative phosphorylation deficiency 38 (COXPD38)
  • Combined oxidative phosphorylation deficiency 2 (COXPD2)
  • Combined oxidative phosphorylation deficiency 36 (COXPD36)
  • Combined oxidative phosphorylation deficiency 5 (COXPD5)
  • MRPS23-related hepatic disease with combined respiratory chain complex deficiencies
  • Combined oxidative phosphorylation deficiency 32 (COXPD32)
  • Combined oxidative phosphorylation deficiency 34 (COXPD34)
  • Mitochondrial myopathy and ataxia
  • Combined oxidative phosphorylation deficiency 15 (COXPD15)
  • Methylenetetrahydrofolate dehydrogenase 1 deficiency
  • Combined oxidative phosphorylation deficiency 10 (COXPD10)
  • Spastic ataxia 4
  • 2,4-dienoyl-CoA reductase deficiency (DECRD)
  • Combined oxidative phosphorylation deficiency 24 (COXPD24)
  • Progressive, early-onset encephalopathy with brain edema and/or leukoencephalopathy 1
  • Mitochondrial complex I deficiency, nuclear type 12
  • Mitochondrial complex I deficiency, nuclear type 22
  • Mitochondrial complex I deficiency, nuclear type 14
  • Mitochondrial complex I deficiency, nuclear type 23
  • Mitochondrial complex I deficiency
  • Mitochondrial complex I deficiency, nuclear type 13
  • Mitochondrial complex I deficiency, nuclear type 33
  • Mitochondrial complex I deficiency, nuclear type 26
  • Mitochondrial complex I deficiency, nuclear type 11
  • Mitochondrial complex I deficiency, nuclear type 10
  • Mitochondrial complex I deficiency, nuclear type 18
  • Mitochondrial complex I deficiency, nuclear type 15
  • Mitochondrial complex I deficiency, nuclear type 16
  • Mitochondrial complex I deficiency, nuclear type 17
    Mitochondrial complex I – related myopia
  • NDUFB11-related conditions:
    • Myopathy, lactic acidosis and sideroblastic anemia
    • Histiocytoid cardiomyopathy
    • Microphthalmia with linear skin defects syndrome
    • X-linked lethal infantile mitochondrial disorder
  • Mitochondrial complex I deficiency, nuclear type 25
  • Mitochondrial complex I deficiency, nuclear type 32
  • Mitochondrial complex I deficiency, nuclear type 24
  • Mitochondrial complex I deficiency, nuclear type 5
  • Mitochondrial complex I deficiency, nuclear type 6
  • Mitochondrial complex I deficiency, nuclear type 8
  • Mitochondrial complex I deficiency, nuclear type 1
  • Mitochondrial complex I deficiency, nuclear type 9
  • NDUFS7-related mitochondrial complex I deficiency
  • Mitochondrial complex I deficiency, nuclear type 2
  • Mitochondrial complex I deficiency, nuclear type 4
  • Mitochondrial complex I deficiency, nuclear type 7
  • Mitochondrial complex II/III deficiency
  • Multiple mitochondrial dysfunctions syndrome 1 (MMDS1)
  • NGLY1-congenital disorder of glycosylation (CDG-1V)
  • Glucocorticoid deficiency type 4 (GCCD)
  • Bosch-Boonstra-Schaaf optic atrophy syndrome
  • Combined mitochondrial respiratory chain complex deficiency 48
  • Mitochondrial complex I deficiency, nuclear type 21 (MC1DN21)
  • Infantile striatonigral degeneration
  • Alpha-ketoglutarate dehydrogenase deficiency, OGDH-related autistic spectrum disorder
  • OPA1-related conditions:
    • Hereditary optic atrophy
    • Optic atrophy plus syndrome
    • Mitochondrial DNA deletion syndrome
    • Behr syndrome
  • 3-methylglutaconic aciduria type III (Costeff syndrome), Optic atrophy and cataract
  • Ornithine transcarbamylase deficiency
  • Succinyl CoA:3-oxoacid CoA transferase (SCOT) deficiency
  • Pantothenate kinase-associated neurodegeneration (PKAN)
  • Alpers syndrome
  • Pyruvate carboxylase deficiency
  • Propionic acidemia (PA)
  • PCK2-related conditions
  • Pyruvate dehydrogenase E1-alpha (PDHE1α) deficiency
  • Pyruvate dehydrogenase complex (PDHC) deficiency
  • Charcot-Marie-Tooth disease type 6 (CMTX6)
  • Pyruvate dehydrogenase phosphatase deficiency (PDHPD)
  • Primary coenzyme Q10 deficiency 2 (COQ10D2)
  • Primary coenzyme Q10 deficiency 3 (COQ10D3)
  • Isolated mitochondrial complex IV deficiency
  • Parkinson disease 6 (PARK6)
  • PITRM1-related spinocerebellar ataxia
  • Spinocerebellar ataxia 2
  • Multiple mitochondrial dysfunctions syndrome 6
  • Familial paroxysmal nonkinesigenic dyskinesia, PNKD-related Tourette syndrome
  • Mitochondrial myopathy with lactic acidosis
  • Combined oxidative phosphorylation deficiency 13 (COXPD13)
  • POLG-related disorders:
    • Alpers-Huttenlocher (AHS)
    • Childhood myocerebrohepatopathy spectrum (MCHS)
    • Myoclonic epilepsy myopathy sensory ataxia (MEMSA)
    • Progressive external ophthalmoplegia
    • Ataxia neuropathy spectrum (ANS)
  • Progressive external ophthalmoplegia with mitochondrial deletions 4
  • Anauxetic dysplasia
  • PPA2-related sudden cardiac failure
  • Variegate porphyria (VP) (Protoporphyrinogen oxidase deficiency)
  • PSAP-related saposin deficiencies
  • PUS1-related myopathy, lactic acidosis, and sideroblastic anemia
  • Progressive microcephaly with seizures and cerebral and cerebellar atrophy
  • Combined oxidative phosphorylation deficiency 40 (COXPD40)
  • Infection-induced acute necrotizing encephalopathy
  • Hypomyelinating leukodystrophy 9
  • RARS2-related pontocerebellar hypoplasia
  • Hereditary spastic paraplegia 31, Distal hereditary motor neuropathy 5B
  • Combined oxidative phosphorylation deficiency 11 (COXPD11)
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions
  • Mitochondrial DNA depletion syndrome 8A
  • Spastic ataxia of Charlevoix-Saguenay
  • Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis (HUPRA) syndrome; Spastic paresis
  • Spectrum of autosomal dominant SCN1A seizure disorders (Dravet syndrome), Familial hemiplegic migraine (FHM3)
  • Mitochondrial complex IV deficiency (Cytochrome-c oxidase deficiency)
  • Mitochondrial complex II deficiency with or without cardiomyopathy
  • Infantile leukoencephalopathy
  • SDHC-related conditions:
    • Hereditary paraganglioma-pheochromocytoma (PGL-PCC)
    • Gastrointestinal stromal tumor (GIST)
    • Renal cell carcinoma
    • Carney-Stratakis syndrome
  • SDHD-related mitochondrial complex II deficiency
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like (MEGDEL) syndrome
  • Combined oxidative phosphorylation deficiency 18 (COXPD18)
  • SIRT1-related type 1 diabetes
  • Thiamine-responsive megaloblastic anemia
  • Biotin-responsive basal ganglia disease (BBGD), Thiamine Metabolism Dysfunction Syndrome 2 (THMD2)
  • Primary carnitine deficiency
  • Combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA)
  • SLC25A12-related early infantile epileptic encephalopathy
  • Citrin deficiency
  • Hyperornithinemia-hyperammonemia-homocystinuria (HHH) syndrome
  • Thiamine metabolism dysfunction syndromes
  • Carnitine-acylcarnitine translocase (CACT) deficiency
  • Mitochondrial DNA depletion syndrome 18
  • Early infantile epileptic encephalopathy (EIEE)
  • Combined oxidative phosphorylation deficiency 28 (COXPD28)
  • Mitochondrial phosphate carrier deficiency
  • Riboflavin-responsive exercise intolerance
  • Pyridoxine-refractory congenital sideroblastic anemia
  • Mitochondrial DNA depletion syndrome 12A, 12B
  • Mitochondrial myopathy
  • Hereditary motor and sensory neuropathy type VIB and pontocerebellar hypoplasia
  • SLC39A8-congenital disorder of glycosylation (SLC39A8-CDG, CDG-IIn)
  • Brown-Vialetto-Van Laere syndrome 2 (BVVLS2) (Riboflavin transporter deficiency neuropathy)
  • Brown-Vialetto-Van Laere syndrome 1 (BVVLS1) (Riboflavin transporter deficiency neuropathy)
  • Creatine transporter deficiency (CTD)
  • SLC7A13-related neurodevelopmental condition
  • Hereditary spastic paraplegia 4 (SPG4)
  • Hereditary spastic paraplegia 7
  • STAT2 deficiency
  • STXBP1-related early infantile epileptic encephalopathy
  • Succinate-CoA ligase deficiency
  • SUCLG2-related mitochondrial DNA depletion syndrome
  • Glutaric aciduria type III
  • Leigh syndrome due to mitochondrial complex IV deficiency, Charcot-Marie-Tooth disease type 4K
  • Mitochondrial complex IV deficiency
  • Recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias and neurodegeneration (MECRCN)
  • Combined oxidative phosphorylation deficiency 21 (COXPD21)
  • TAZ-related conditions:
    • Barth Syndrome (3-methylglutaconic aciduria type II)
    • Dilated cardiomyopathy (DCM)
    • Left ventricular noncompaction cardiomyopathy
  • TFAM-related mitochondrial DNA depletion syndrome
  • 3-methylglutaconic aciduria
  • Mohr-Tranebjaerg syndrome (Deafness-dystonia-optic neuronopathy syndrome, Jensen syndrome)
  • Mitochondrial complex I deficiency, nuclear type 31
  • Mitochondrial DNA depletion syndrome 2
  • Pptic atrophy 7
  • Mitochondrial complex I deficiency, nuclear type 29
  • ATP synthase deficiency
  • Congenital anomalies of the kidney and urinary tract and mitochondrial deficiency
  • Bloom-like syndrome, Progressive external ophthalmoplegia with mitochondrial deletions
  • Thiamine metabolism dysfunction syndrome 5 (THMD5)
  • Intellectual disability, Parkinson’s disease, Autoinflammatory disease
  • Aicardi-Goutieres syndrome 1 (AGS1), Retinal vasculopathy with cerebral leukodystrophy
  • Combined oxidative phosphorylation deficiency 35 (COXPD35)
  • Combined oxidative phosphorylation deficiency 30 (COXPD30)
  • Combined oxidative phosphorylation deficiency 26 (COXPD26)
  • TRMU-related transient infantile liver failure
  • Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay; Retinitis pigmentosa with erythrocytic microcytosis
  • Combined oxidative phosphorylation deficiency 3 (COXPD3)
  • Mitochondrial complex III deficiency, nuclear type 2
  • Combined oxidative phosphorylation deficiency 4 (COXPD4)
  • Combined oxidative phosphorylation deficiency 29 (COXPD29)
  • Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) (Mitochondrial DNA depletion syndrome 1)
  • Mitochondrial complex III deficiency, nuclear type 7
  • Mitochondrial complex III deficiency, nuclear type 9
  • Mitochondrial complex III deficiency, nuclear type 3
  • Mitochondrial complex III deficiency, nuclear type 5
  • Mitochondrial complex III deficiency, nuclear type 4
  • Combined oxidative phosphorylation deficiency 20 (COXPD20)
  • WARS2-related leukoencephalopathy
  • Beta-propeller protein-associated neurodegeneration (BPAN)
  • Wolfram syndrome (WFS)
  • Nephronophthisis-like nephropathy 1
  • YARS2-related myopathy, lactic acidosis, and sideroblastic anemia (MLASA2)
  • Mitochondriopathy with optic nerve atrophy

Ordering information

Turnaround time:

10–21 calendar days (14 days on average)

New York approved:

Yes

Preferred specimen:

3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)

Alternate specimens:

Saliva, buccal swab, and gDNA are also accepted.Learn more about specimen requirementsRequest a specimen collection kit

Clinical description

To view the complete clinical description of this panel, click here.

Clinical description

To view the complete clinical description of this panel, click here.

Assay information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below, depending on the specific gene or test. In addition, the analysis covers select non-coding variants. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

Assay information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below, depending on the specific gene or test. In addition, the analysis covers select non-coding variants. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

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Primary panel

333 genes selected
AARS2
AASS
ABAT
ABCB7
ACACA
ACAD9
ACADM
ACADS
ACADVL
ACAT1
ACO2
ADAR
AFG3L2
AGK
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