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Labcorp Genetics (formerly Invitae)
Invitae Nuclear Mitochondrial Disorders Panel
Invitae Nuclear Mitochondrial Disorders Panel
At a Glance
Diagnosis;
Pre-symptomatic;
Therapeutic management
Mitochondrial complex 1 deficiency, nuclear type 33;
2-hydroxyglutaric aciduria;
3-Methylglutaconic aciduria type 2
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Mitochondrial complex 1 deficiency, nuclear type 33
2-hydroxyglutaric aciduria
3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 3
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
3-methylglutaconic aciduria type 1
3-methylglutaconic aciduria type 5
3-methylglutaconic aciduria type 8
3-methylglutaconic aciduria type 9
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
3-methylglutaconic aciduria, type VIIB
Abortive cerebellar ataxia
Acetyl-CoA: carboxylase deficiency
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Acyl-CoA dehydrogenase 9 deficiency
Aicardi-Goutieres syndrome 1
Aicardi-Goutieres syndrome 2
Aicardi-Goutieres syndrome 3
Aicardi-Goutieres syndrome 4
Aicardi-Goutieres syndrome 5
Aicardi-Goutieres syndrome 6
Aicardi-Goutieres syndrome 7
Aminoglycoside-induced deafness
Amish lethal microcephaly
Anauxetic dysplasia 2
Arginine:glycine amidinotransferase deficiency
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Autosomal dominant mitochondrial myopathy with exercise intolerance
Autosomal dominant nonsyndromic hearing loss 6
Autosomal dominant optic atrophy classic form
Autosomal recessive ataxia due to ubiquinone deficiency
Autosomal recessive early-onset Parkinson disease 6
Autosomal recessive nonsyndromic hearing loss 70
Autosomal recessive optic atrophy, OPA7 type
Autosomal recessive spinocerebellar ataxia 2
Beta-hydroxyisobutyryl-CoA deacylase deficiency
Biotin-responsive basal ganglia disease
Biotinidase deficiency
Bosch-Boonstra-Schaaf optic atrophy syndrome
Brown-Vialetto-van Laere syndrome 1
Brown-Vialetto-van Laere syndrome 2
CODAS syndrome
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4
Cardiomyopathy-hypotonia-lactic acidosis syndrome
Carney-Stratakis syndrome
Carnitine acylcarnitine translocase deficiency
Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyl transferase II deficiency, myopathic form
Carnitine palmitoyl transferase II deficiency, neonatal form
Carnitine palmitoyl transferase II deficiency, severe infantile form
Cataract 38
Cataract 41
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
Charcot-Marie-Tooth disease X-linked dominant 6
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease recessive intermediate D
Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease type 4K
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
Charcot-Marie-Tooth disease, axonal, type 2EE
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
Charlevoix-Saguenay spastic ataxia
Chilblain lupus 1
Chilblain lupus 2
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Citrullinemia, type II, adult-onset
Coenzyme Q10 deficiency, primary, 1
Coenzyme Q10 deficiency, primary, 3
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
Combined oxidative phosphorylation defect type 11
Combined oxidative phosphorylation defect type 13
Combined oxidative phosphorylation defect type 14
Combined oxidative phosphorylation defect type 15
Combined oxidative phosphorylation defect type 17
Combined oxidative phosphorylation defect type 2
Combined oxidative phosphorylation defect type 20
Combined oxidative phosphorylation defect type 21
Combined oxidative phosphorylation defect type 23
Combined oxidative phosphorylation defect type 24
Combined oxidative phosphorylation defect type 25
Combined oxidative phosphorylation defect type 26
Combined oxidative phosphorylation defect type 27
Combined oxidative phosphorylation defect type 30
Combined oxidative phosphorylation defect type 4
Combined oxidative phosphorylation defect type 7
Combined oxidative phosphorylation defect type 8
Combined oxidative phosphorylation defect type 9
Combined oxidative phosphorylation deficiency 19
Combined oxidative phosphorylation deficiency 28
Combined oxidative phosphorylation deficiency 29
Combined oxidative phosphorylation deficiency 32
Combined oxidative phosphorylation deficiency 33
Combined oxidative phosphorylation deficiency 34
Combined oxidative phosphorylation deficiency 35
Combined oxidative phosphorylation deficiency 36
Combined oxidative phosphorylation deficiency 38
Combined oxidative phosphorylation deficiency 39
Combined oxidative phosphorylation deficiency 40
Combined oxidative phosphorylation deficiency 44
Combined oxidative phosphorylation deficiency 45
Combined oxidative phosphorylation deficiency 46
Combined oxidative phosphorylation deficiency 48
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
Congenital disorder of deglycosylation
Congenital hyperammonemia, type I
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Creatine transporter deficiency
D-2-hydroxyglutaric aciduria 1
D-2-hydroxyglutaric aciduria 2
Danon disease
Deafness dystonia syndrome
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Deficiency of 3-hydroxyacyl-CoA dehydrogenase
Deficiency of acetyl-CoA acetyltransferase
Deficiency of butyryl-CoA dehydrogenase
Deficiency of guanidinoacetate methyltransferase
Deficiency of hydroxymethylglutaryl-CoA lyase
Developmental and epileptic encephalopathy, 39
Developmental and epileptic encephalopathy, 4
Developmental and epileptic encephalopathy, 75
Dilated cardiomyopathy 1GG
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
Encephalopathy due to defective mitochondrial and peroxisomal fission 2
Encephalopathy, acute, infection-induced, susceptibility to, 4
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Ethylmalonic encephalopathy
Familial acute necrotizing encephalopathy
Familial infantile myasthenia
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Fanconi renotubular syndrome 1
Fanconi renotubular syndrome 5
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Fumarase deficiency
GRACILE syndrome
Gamma-aminobutyric acid transaminase deficiency
Gastrointestinal stromal tumor
Glaucoma, normal tension, susceptibility to
Glucocorticoid deficiency 4
Glutaric aciduria, type 1
Glutaryl-CoA oxidase deficiency
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
HSD10 mitochondrial disease
Hearing loss, autosomal recessive 94
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Hereditary leiomyomatosis and renal cell cancer
Hereditary motor and sensory neuropathy with optic atrophy
Hereditary myopathy with lactic acidosis due to ISCU deficiency
Hereditary spastic paraplegia 13
Hereditary spastic paraplegia 31
Hereditary spastic paraplegia 4
Hereditary spastic paraplegia 43
Hereditary spastic paraplegia 55
Hereditary spastic paraplegia 7
Hereditary spastic paraplegia 74
Hereditary spastic paraplegia 77
Holocarboxylase synthetase deficiency
Hurthle cell carcinoma of thyroid
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Hyperinsulinemic hypoglycemia, familial, 4
Hyperlysinemia
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome
Hypomyelinating leukodystrophy 4
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Hypotonia with lactic acidemia and hyperammonemia
Infantile bilateral striatal necrosis
Infantile cerebellar-retinal degeneration
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Infantile onset spinocerebellar ataxia
L-2-hydroxyglutaric aciduria
Leigh syndrome
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Leukoencephalopathy, progressive, with ovarian failure
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
Linear skin defects with multiple congenital anomalies 1
Linear skin defects with multiple congenital anomalies 2
Linear skin defects with multiple congenital anomalies 3
Lipoic acid synthetase deficiency
Lipoyl transferase 1 deficiency
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Lower motor neuron syndrome with late-adult onset
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression
Methylmalonic aciduria and homocystinuria type cblF
Microcephaly, growth restriction, and increased sister chromatid exchange 2
Mitochondrial DNA deletion syndrome with progressive myopathy
Mitochondrial DNA depletion syndrome 1
Mitochondrial DNA depletion syndrome 11
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
Mitochondrial DNA depletion syndrome 13
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
Mitochondrial DNA depletion syndrome 16 (hepatic type)
Mitochondrial DNA depletion syndrome 18
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Mitochondrial DNA depletion syndrome 4b
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Mitochondrial DNA depletion syndrome 8a
Mitochondrial DNA depletion syndrome 9
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Mitochondrial DNA depletion syndrome, myopathic form
Mitochondrial complex 1 deficiency, nuclear type 10
Mitochondrial complex 1 deficiency, nuclear type 11
Mitochondrial complex 1 deficiency, nuclear type 12
Mitochondrial complex 1 deficiency, nuclear type 13
Mitochondrial complex 1 deficiency, nuclear type 14
Mitochondrial complex 1 deficiency, nuclear type 15
Mitochondrial complex 1 deficiency, nuclear type 16
Mitochondrial complex 1 deficiency, nuclear type 17
Mitochondrial complex 1 deficiency, nuclear type 18
Mitochondrial complex 1 deficiency, nuclear type 19
Mitochondrial complex 1 deficiency, nuclear type 2
Mitochondrial complex 1 deficiency, nuclear type 21
Mitochondrial complex 1 deficiency, nuclear type 22
Mitochondrial complex 1 deficiency, nuclear type 23
Mitochondrial complex 1 deficiency, nuclear type 24
Mitochondrial complex 1 deficiency, nuclear type 25
Mitochondrial complex 1 deficiency, nuclear type 26
Mitochondrial complex 1 deficiency, nuclear type 27
Mitochondrial complex 1 deficiency, nuclear type 28
Mitochondrial complex 1 deficiency, nuclear type 29
Mitochondrial complex 1 deficiency, nuclear type 3
Mitochondrial complex 1 deficiency, nuclear type 30
Mitochondrial complex 1 deficiency, nuclear type 31
Mitochondrial complex 1 deficiency, nuclear type 32
Mitochondrial complex 1 deficiency, nuclear type 4
Mitochondrial complex 1 deficiency, nuclear type 5
Mitochondrial complex 1 deficiency, nuclear type 6
Mitochondrial complex 1 deficiency, nuclear type 7
Mitochondrial complex 1 deficiency, nuclear type 8
Mitochondrial complex 1 deficiency, nuclear type 9
Mitochondrial complex 4 deficiency, nuclear type 10
Mitochondrial complex 4 deficiency, nuclear type 11
Mitochondrial complex 4 deficiency, nuclear type 12
Mitochondrial complex 4 deficiency, nuclear type 14
Mitochondrial complex 4 deficiency, nuclear type 15
Mitochondrial complex 4 deficiency, nuclear type 21
Mitochondrial complex 4 deficiency, nuclear type 3
Mitochondrial complex 4 deficiency, nuclear type 4
Mitochondrial complex 4 deficiency, nuclear type 7
Mitochondrial complex 4 deficiency, nuclear type 8
Mitochondrial complex I deficiency, nuclear type 1
Mitochondrial complex II deficiency, nuclear type 1
Mitochondrial complex III deficiency nuclear type 1
Mitochondrial complex III deficiency nuclear type 2
Mitochondrial complex III deficiency nuclear type 3
Mitochondrial complex III deficiency nuclear type 4
Mitochondrial complex III deficiency nuclear type 5
Mitochondrial complex III deficiency nuclear type 6
Mitochondrial complex III deficiency nuclear type 7
Mitochondrial complex III deficiency nuclear type 8
Mitochondrial complex III deficiency nuclear type 9
Mitochondrial complex IV deficiency, nuclear type 1
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
Mitochondrial myopathy-lactic acidosis-deafness syndrome
Mitochondrial pyruvate carrier deficiency
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
Mitochondrial trifunctional protein deficiency
Multiple acyl-CoA dehydrogenase deficiency
Multiple mitochondrial dysfunctions syndrome 1
Multiple mitochondrial dysfunctions syndrome 2
Multiple mitochondrial dysfunctions syndrome 3
Multiple mitochondrial dysfunctions syndrome 4
Multiple mitochondrial dysfunctions syndrome 5
Multiple mitochondrial dysfunctions syndrome 6
Multiple system atrophy
Muscle AMP deaminase deficiency
Myasthenic syndrome, congenital, 23, presynaptic
Myopathy with abnormal lipid metabolism
Myopathy, lactic acidosis, and sideroblastic anemia 1
Myopathy, lactic acidosis, and sideroblastic anemia 2
Myopia 6
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Neonatal intrahepatic cholestasis due to citrin deficiency
Nephronophthisis-like nephropathy 1
Nephrotic syndrome, type 9
Neural tube defects, folate-sensitive
Neurodegeneration with brain iron accumulation 4
Neurodegeneration with brain iron accumulation 5
Neurodegeneration with brain iron accumulation 6
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
Neuronopathy, distal hereditary motor, type 5B
Neuropathy, hereditary motor and sensory, type 6B
Non-ketotic hyperglycinemia
Optic atrophy 11
Optic atrophy 12
Optic atrophy 3
Optic atrophy 5
Optic atrophy 9
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
Ornithine carbamoyltransferase deficiency
Ovarian dysgenesis 7
Oxoglutaricaciduria
Pancreatic insufficiency-anemia-hyperostosis syndrome
Paragangliomas 1
Paragangliomas 3
Paragangliomas 4
Paragangliomas 5
Parkinson disease 13, autosomal dominant, susceptibility to
Paroxysmal nonkinesigenic dyskinesia 1
Perrault syndrome 2
Perrault syndrome 3
Perrault syndrome 4
Perrault syndrome 5
Pheochromocytoma
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial
Pigmentary pallidal degeneration
Pili torti-deafness syndrome
Pontocerebellar hypoplasia type 6
Pontocerebellar hypoplasia, type 12
Portal hypertension, noncirrhotic
Primary coenzyme Q10 deficiency 8
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
Progressive bulbar palsy of childhood
Progressive demyelinating neuropathy with bilateral striatal necrosis
Progressive encephalopathy with leukodystrophy due to DECR deficiency
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
Progressive sclerosing poliodystrophy
Propionic acidemia
Prostate cancer, hereditary, 2
Proximal myopathy with extrapyramidal signs
Pseudo-TORCH syndrome 3
Pulmonary hypertension, neonatal, susceptibility to
Pyruvate carboxylase deficiency
Pyruvate dehydrogenase E1-alpha deficiency
Pyruvate dehydrogenase E1-beta deficiency
Pyruvate dehydrogenase E2 deficiency
Pyruvate dehydrogenase E3 deficiency
Pyruvate dehydrogenase E3-binding protein deficiency
Pyruvate dehydrogenase phosphatase deficiency
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
Renal carnitine transport defect
Reticular dysgenesis
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Retinitis pigmentosa 46
Retinitis pigmentosa and erythrocytic microcytosis
SLC39A8-CDG
Seckel syndrome 8
Sengers syndrome
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Severe X-linked mitochondrial encephalomyopathy
Sideroblastic anemia 2
Sideroblastic anemia 3
Singleton-Merten syndrome 1
Sjögren-Larsson syndrome
Spastic ataxia 3
Spastic ataxia 4
Spastic ataxia 5
Spasticity-ataxia-gait anomalies syndrome
Spinocerebellar ataxia type 28
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
Spondyloepimetaphyseal dysplasia, Bieganski type
Succinyl-CoA acetoacetate transferase deficiency
Sudden cardiac failure, alcohol-induced
Sudden cardiac failure, infantile
Symmetrical dyschromatosis of extremities
Systemic lupus erythematosus
Thrombocytopenia 4
Type 2 diabetes mellitus
Variegate porphyria
Very long chain acyl-CoA dehydrogenase deficiency
Wilson disease
Wolfram syndrome 1
Wolfram-like syndrome
X-linked erythropoietic protoporphyria
X-linked sideroblastic anemia 1
X-linked sideroblastic anemia with ataxia
AARS2 (6p21.1);
AASS (7q31.32);
ABAT (16p13.2);
ABCB7 (Xq13.3);
ACACA (17q12)
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Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
The Invitae Nuclear Mitochondrial Disorders Panel analyzes nuclear-encoded genes that …
Ordering Information
Who can order: Help
Genetic Counselor
Health Care Provider
Licensed Physician
Nurse Practitioner
Physician Assistant
Registered Nurse
Test Order Code:
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98002
How to Order:
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Tests can be ordered online or by submitting a paper requisition form.
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Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Based on applicable state law
Test strategy:
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Full gene sequencing and deletion/duplication analysis of targeted gene
Pre-test genetic counseling required:
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No
Post-test genetic counseling required:
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No
Recommended fields not provided:
Lab contact for this test,
Contact policy
Conditions
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Total conditions: 394
Condition/Phenotype
Identifier
Test Targets
Genes
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Total genes: 319
Gene
Associated Condition
Germline or Somatic
Allele (Lab-provided)
Variant in NCBI
Methodology
Total methods: 2
Method Category
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Test method
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Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Pre-symptomatic;
Therapeutic management
Target population:
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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 …
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.
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Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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Invitae's variant interpretation methodology adheres closely to ACMG guidelines. Observed variants are interpreted according to the framework of evidence recommended by these guidelines, based on evidence in peer-reviewed literature and Invitae's database. Our clinical report documents the evidence and logic supporting each variant interpretation to make it easy for the …
Invitae's variant interpretation methodology adheres closely to ACMG guidelines. Observed variants are interpreted according to the framework of evidence recommended by these guidelines, based on evidence in peer-reviewed literature and Invitae's database. Our clinical report documents the evidence and logic supporting each variant interpretation to make it easy for the ordering clinician to evaluate our conclusions.
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Are family members with defined clinical status recruited to assess significance of VUS without charge?
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Will the lab re-contact the ordering physician if variant interpretation changes?
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Recommended fields not provided:
Clinical validity,
Clinical utility,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Procedure:
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Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods
Availability:
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Tests performed
Analytical Validity:
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Our analytic validation study has demonstrated >99.9% sensitivity and specificity for tested mutations.
Assay limitations:
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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 …
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. In addition, the analysis covers the select non-coding variants specifically defined in the table below. 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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Proficiency testing (PT):
Is proficiency testing performed for this test?
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Recommended fields not provided:
Test Confirmation,
Citations to support assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
PT Provider,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
FDA exercises enforcement discretion
NYS CLEP Approval:
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Number:
8884
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