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Fulgent Genetics
Comprehensive Metabolism NGS Panel
Comprehensive Metabolism NGS Panel
At a Glance
Diagnosis;
Mutation Confirmation
Type 2 diabetes mellitus;
3-Methylglutaconic aciduria type 2;
3-Methylglutaconic aciduria type 3
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Type 2 diabetes mellitus
3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 3
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
3-methylcrotonyl-CoA carboxylase 1 deficiency
3-methylcrotonyl-CoA carboxylase 2 deficiency
3-methylglutaconic aciduria type 1
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
ALG1-congenital disorder of glycosylation
ALG11-congenital disorder of glycosylation
ALG12-congenital disorder of glycosylation
ALG2-congenital disorder of glycosylation
ALG3-congenital disorder of glycosylation
ALG6-congenital disorder of glycosylation 1C
ALG8 congenital disorder of glycosylation
ALG9 congenital disorder of glycosylation
Abnormal acetabulum morphology
Abnormal autonomic nervous system physiology
Abnormality of the skin
Achalasia
Achondrogenesis type II
Acromicric dysplasia
Acute intermittent porphyria
Acyl-CoA dehydrogenase 9 deficiency
Acyl-CoA oxidase deficiency
Adenylosuccinate lyase deficiency
Adrenoleukodystrophy
Adult neuronal ceroid lipofuscinosis
Adult polyglucosan body disease
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
Alacrima
Alacrima, achalasia, and intellectual disability syndrome
Alpha-methylacyl-CoA racemase deficiency
Alzheimer disease
Aminoacylase 1 deficiency
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
Andersen Tawil syndrome
Anisocoria
Anterior hypopituitarism
Apnea
Arginase deficiency
Arginine:glycine amidinotransferase deficiency
Argininosuccinate lyase deficiency
Aspartylglucosaminuria
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Atelosteogenesis type I
Atelosteogenesis type III
Athetosis
Atrial fibrillation, familial, 9
Autosomal dominant nonsyndromic hearing loss 13
Autosomal dominant nonsyndromic hearing loss 6
Autosomal dominant optic atrophy classic form
Autosomal recessive nonsyndromic hearing loss 53
Autosomal recessive optic atrophy, OPA7 type
Autosomal recessive spinocerebellar ataxia 10
Autosomal recessive spinocerebellar ataxia 7
Avascular necrosis of femoral head, primary, 1
B4GALT1-congenital disorder of glycosylation
Beta-D-mannosidosis
Bifid uvula
Bifunctional peroxisomal enzyme deficiency
Biotinidase deficiency
Body mass index quantitative trait locus 4
Boomerang dysplasia
Brachycephaly
COG1 congenital disorder of glycosylation
COG4-congenital disorder of glycosylation
COG5-congenital disorder of glycosylation
COG6-congenital disorder of glycosylation
COG7 congenital disorder of glycosylation
COG8-congenital disorder of glycosylation
Cardiac arrhythmia
Cardiac valvular dysplasia, X-linked
Cardiomyopathy-hypotonia-lactic acidosis 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
Carotid intimal medial thickness 1
Cataract
Cataract 38
Cataract 41
Central core myopathy
Cerebellar atrophy
Cerebral atrophy
Cerebral folate transport deficiency
Ceroid lipofuscinosis, neuronal, 6A
Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease type 2B1
Chilblain lupus 1
Chilblain lupus 2
Chorea
Choreoathetosis
Citrullinemia type I
Citrullinemia type II
Classic homocystinuria
Clinodactyly
Coarse facial features
Cobalamin C disease
Coenzyme Q10 deficiency, primary, 1
Coenzyme Q10 deficiency, primary, 3
Cognitive impairment
Combined PSAP deficiency
Combined deficiency of sialidase AND beta galactosidase
Combined malonic and methylmalonic acidemia
Combined molybdoflavoprotein enzyme deficiency
Combined oxidative phosphorylation defect type 7
Concave nasal ridge
Cone-rod dystrophy
Congenital bile acid synthesis defect 4
Congenital defect of folate absorption
Congenital disorder of glycosylation
Congenital disorder of glycosylation type 1E
Congenital disorder of glycosylation type Ir
Congenital dyserythropoietic anemia, type II
Congenital generalized lipodystrophy type 1
Congenital generalized lipodystrophy type 2
Congenital generalized lipodystrophy type 3
Congenital hyperammonemia, type I
Congenital multicore myopathy with external ophthalmoplegia
Congenital muscular dystrophy due to LMNA mutation
Congenital myasthenic syndrome 13
Congenital myasthenic syndrome 16
Congenital myopathy with fiber type disproportion
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Costello syndrome
Creatine transporter deficiency
Cutaneous porphyria
Cutis laxa with osteodystrophy
Cystinuria
DK1-congenital disorder of glycosylation
DPAGT1-congenital disorder of glycosylation
DPM3-congenital disorder of glycosylation
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
Delayed myelination
Depressed nasal bridge
Developmental and epileptic encephalopathy, 36
Developmental regression
Diabetes mellitus
Diabetes mellitus type 1
Diabetes mellitus, transient neonatal, 2
Diabetes mellitus, transient neonatal, 3
Dihydropteridine reductase deficiency
Dihydropyrimidine dehydrogenase deficiency
Dilated cardiomyopathy 1A
Dilated cardiomyopathy 1C
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Distal myopathy, Tateyama type
Downslanted palpebral fissures
Dyggve-Melchior-Clausen syndrome
Dysphagia
Dyssynergia
Dystonia 5
Dystonic disorder
Eczematoid dermatitis
Elevated circulating creatine kinase concentration
Elevated circulating hepatic transaminase concentration
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Encephalopathy
Encephalopathy, acute, infection-induced, susceptibility to, 4
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Epicanthus
Epidermal nevus
Epileptic encephalopathy
Episodic ataxia type 1
Everted lower lip vermilion
Exercise-induced hyperinsulinism
FG syndrome 2
Fabry disease
Failure to thrive
Familial hyperkalemic periodic paralysis
Familial hypokalemia-hypomagnesemia
Familial partial lipodystrophy, Dunnigan type
Familial porphyria cutanea tarda
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Fanconi-Bickel syndrome
Farber lipogranulomatosis
Feeding difficulties
Fibrochondrogenesis 2
Frontometaphyseal dysplasia 1
Fructose-biphosphatase deficiency
Fucosidosis
Fumarase deficiency
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
GNE myopathy
GNPTG-mucolipidosis
GTP cyclohydrolase I deficiency
Gait disturbance
Galactosylceramide beta-galactosidase deficiency
Gastroesophageal reflux
Gaucher disease due to saposin C deficiency
Gaucher disease perinatal lethal
Gaucher disease type I
Gaucher disease type II
Gaucher disease type III
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Generalized hyperpigmentation
Glaucoma, normal tension, susceptibility to
Global developmental delay
Glucose-6-phosphate transport defect
Glutaric aciduria, type 1
Glycogen storage disease IXa1
Glycogen storage disease IXb
Glycogen storage disease IXc
Glycogen storage disease IXd
Glycogen storage disease XV
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Glycogen storage disease due to muscle beta-enolase deficiency
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Glycogen storage disease type III
Glycogen storage disease type X
Glycogen storage disease, type II
Glycogen storage disease, type IV
Glycogen storage disease, type V
Glycogen storage disease, type VI
Glycogen storage disease, type VII
Glycogen storage disorder due to hepatic glycogen synthase deficiency
Growth delay
HNSHA due to aldolase A deficiency
HSD10 mitochondrial disease
Haim-Munk syndrome
Hawkinsinuria
Hearing impairment
Heart-hand syndrome, Slovenian type
Hemochromatosis type 1
Hemochromatosis type 2B
Hemochromatosis type 3
Hemochromatosis type 4
Heparan sulfate excretion in urine
Hepatic adenomas, familial
Hepatomegaly
Hereditary acrodermatitis enteropathica
Hereditary coproporphyria
Hereditary disease
Hereditary intrinsic factor deficiency
Hereditary motor and sensory neuropathy with optic atrophy
Hereditary myopathy with lactic acidosis due to ISCU deficiency
Hereditary spastic paraplegia 17
Hereditary spastic paraplegia 7
Heterotopia, periventricular, X-linked dominant
Holocarboxylase synthetase deficiency
Homocystinuria
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Hurler syndrome
Hutchinson-Gilford syndrome
Hyaline fibromatosis syndrome
Hyper-beta-alaninemia
Hyperammonemia, type III
Hyperekplexia 1
Hyperglycinuria
Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 4
Hyperinsulinism due to INSR deficiency
Hyperinsulinism due to glucokinase deficiency
Hyperinsulinism-hyperammonemia syndrome
Hyperkeratosis
Hypernasal speech
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Hyperphenylalaninemia
Hypertonia
Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy 1
Hypertrophic cardiomyopathy 6
Hypohidrosis
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 2
Hypoplasia of the corpus callosum
Hypospadias
Hypotonia
Hypsarrhythmia
Iminoglycinuria
Immunodeficiency
Incoordination
Increased CSF lactate
Increased circulating lactate concentration
Increased muscle glycogen content
Infantile GM1 gangliosidosis
Inherited orthostatic hypotension
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Intellectual disability
Intellectual disability, autosomal recessive 7
Intestinal hypomagnesemia 1
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
Iris coloboma
Isolated microcephaly
Isovaleryl-CoA dehydrogenase deficiency
Jalili syndrome
Juvenile nephropathic cystinosis
Kahrizi syndrome
Keratan sulfate excretion in urine
Kniest dysplasia
Krabbe disease due to saposin A deficiency
Kufor-Rakeb syndrome
L-2-hydroxyglutaric aciduria
Lactic acidosis
Lafora disease
Larsen syndrome
Legg-Calve-Perthes disease
Leigh syndrome
Leprechaunism syndrome
Lethal congenital glycogen storage disease of heart
Lethal tight skin contracture syndrome
Leucine-induced hypoglycemia
Leukocyte adhesion deficiency type II
Leukodystrophy
Lewy body dementia
Linear nevus sebaceous syndrome
Long QT syndrome 9
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Lymphadenopathy
Lysinuric protein intolerance
Lysosomal acid lipase deficiency
MGAT2-congenital disorder of glycosylation
MOGS-congenital disorder of glycosylation
MPDU1-congenital disorder of glycosylation
MPI-congenital disorder of glycosylation
Malignant hyperthermia, susceptibility to, 5
Malignant tumor of urinary bladder
Mandibuloacral dysplasia with type A lipodystrophy
Mandibuloacral dysplasia with type B lipodystrophy
Maple syrup urine disease
Maturity-onset diabetes of the young type 1
Maturity-onset diabetes of the young type 2
Maturity-onset diabetes of the young type 3
Maturity-onset diabetes of the young type 4
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Melnick-Needles syndrome
Merosin deficient congenital muscular dystrophy
Metabolic myopathy due to lactate transporter defect
Metachromatic leukodystrophy
Methylcobalamin deficiency type cblE
Methylcobalamin deficiency type cblG
Methylmalonic acidemia
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Methylmalonic acidemia due to transcobalamin receptor defect
Methylmalonic acidemia with homocystinuria, type cblJ
Methylmalonic aciduria
Methylmalonic aciduria and homocystinuria type cblD
Methylmalonic aciduria and homocystinuria type cblF
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Methylmalonic aciduria, cblA type
Methylmalonic aciduria, cblB type
Micrognathia
Microvascular complications of diabetes, susceptibility to, 7
Mitochondrial DNA depletion syndrome 1
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
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 I deficiency
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
Mitochondrial encephalomyopathy
Mitochondrial respiratory chain defects
Mitochondrial trifunctional protein deficiency
Motor delay
Mucolipidosis type II
Mucolipidosis type IV
Mucopolysaccharidosis
Mucopolysaccharidosis type 6
Mucopolysaccharidosis type 7
Mucopolysaccharidosis, MPS-I-H/S
Mucopolysaccharidosis, MPS-I-S
Mucopolysaccharidosis, MPS-II
Mucopolysaccharidosis, MPS-III-A
Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-D
Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-B
Multiple acyl-CoA dehydrogenase deficiency
Multiple congenital anomalies
Multiple epiphyseal dysplasia, Beighton type
Multiple sulfatase deficiency
Multiple system atrophy
Muscular atrophy
Myalgia
Myofibrillar myopathy 3
Myofibrillar myopathy 4
Myoglobinuria, acute recurrent, autosomal recessive
Namaqualand hip dysplasia
Narrow face
Neonatal intrahepatic cholestasis due to citrin deficiency
Nephroblastoma
Nephropathic cystinosis
Neural tube defects, folate-sensitive
Neuronal ceroid lipofuscinosis 1
Neuronal ceroid lipofuscinosis 10
Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis 7
Neuronal ceroid lipofuscinosis 8
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Neuronopathy, distal hereditary motor, type 5A
Neutral 1 amino acid transport defect
Neutropenia
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type C1
Niemann-Pick disease, type C2
Non-ketotic hyperglycinemia
Nonpapillary renal cell carcinoma
Nystagmus
Obesity
Ocular cystinosis
Open mouth
Optic atrophy
Optic atrophy 3
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
Ornithine aminotransferase deficiency
Ornithine carbamoyltransferase deficiency
Oto-palato-digital syndrome, type I
Oto-palato-digital syndrome, type II
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Otospondylomegaepiphyseal dysplasia, autosomal recessive
PGM1-congenital disorder of glycosylation
PLIN1-related familial partial lipodystrophy
PMM2-congenital disorder of glycosylation
PPARG-related familial partial lipodystrophy
Palmoplantar keratoderma
Pancreatic agenesis 1
Papillon-Lefèvre syndrome
Paramyotonia congenita of Von Eulenburg
Parkinson disease
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
Periodontitis, aggressive 1
Permanent neonatal diabetes mellitus
Peroxisome biogenesis disorder 10A (Zellweger)
Peroxisome biogenesis disorder 11A (Zellweger)
Peroxisome biogenesis disorder 11B
Peroxisome biogenesis disorder 14B
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 2A (Zellweger)
Peroxisome biogenesis disorder 2B
Peroxisome biogenesis disorder 3A (Zellweger)
Peroxisome biogenesis disorder 4A (Zellweger)
Peroxisome biogenesis disorder 4B
Peroxisome biogenesis disorder 5A (Zellweger)
Peroxisome biogenesis disorder 5B
Peroxisome biogenesis disorder 6A (Zellweger)
Peroxisome biogenesis disorder 6B
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B
Peroxisome biogenesis disorder 8A (Zellweger)
Peroxisome biogenesis disorder 8B
Peroxisome biogenesis disorder 9B
Perrault syndrome
Peters plus syndrome
Phenylketonuria
Phosphate transport defect
Phosphoenolpyruvate carboxykinase deficiency, cytosolic
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial
Phytanic acid storage disease
Pitt-Hopkins syndrome
Plagiocephaly
Platyspondylic dysplasia, Torrance type
Polyglucosan body myopathy
Porphobilinogen synthase deficiency
Potassium-aggravated myotonia
Primary adrenocortical insufficiency
Primary dilated cardiomyopathy
Primary hypomagnesemia
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 4
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Proline dehydrogenase deficiency
Propionic acidemia
Protoporphyria, erythropoietic, 1
Protruding ear
Proximal muscle weakness
Pseudo-Hurler polydystrophy
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
Ptosis
Pulmonary hypertension, neonatal, susceptibility to
Pulmonary hypertension, primary, 3
Pyknodysostosis
Pyogenic bacterial infections due to MyD88 deficiency
Pyridoxine-dependent epilepsy
Pyruvate carboxylase deficiency
Pyruvate dehydrogenase E1-beta deficiency
Pyruvate dehydrogenase E3 deficiency
Pyruvate dehydrogenase E3-binding protein deficiency
Pyruvate dehydrogenase complex deficiency
RFT1-congenital disorder of glycosylation
Rabson-Mendenhall syndrome
Rafiq syndrome
Recurrent infections
Recurrent otitis media
Renal carnitine transport defect
Renal cysts and diabetes syndrome
Renal hypomagnesemia 2
Renal hypomagnesemia 4
Renal hypomagnesemia 5 with ocular involvement
Renal hypomagnesemia 6
Renal tubular acidosis
Renpenning syndrome
Respiratory insufficiency
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Retinitis pigmentosa 59
Rhizomelic chondrodysplasia punctata type 1
Rhizomelic chondrodysplasia punctata type 2
Rippling muscle disease 2
SLC35A1-congenital disorder of glycosylation
SRD5A3-congenital disorder of glycosylation
Salla disease
Sandhoff disease
Schizophrenia
Schizophrenia 4
Scoliosis
Seizure
Sengers syndrome
Sensorineural hearing loss disorder
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Severe neurodegenerative syndrome with lipodystrophy
Short QT syndrome type 3
Short foot
Sialic acid storage disease, severe infantile type
Sialidosis type 2
Sialuria
Simpson-Golabi-Behmel syndrome type 1
Small for gestational age
Smith-Lemli-Opitz syndrome
Smith-Magenis syndrome
Smith-McCort dysplasia 1
Somatic sensory dysfunction
Spasticity
Sphingolipid activator protein 1 deficiency
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Spondylocarpotarsal synostosis syndrome
Spondyloepiphyseal dysplasia congenita
Spondyloepiphyseal dysplasia with metatarsal shortening
Spondylometaphyseal dysplasia
Spondyloperipheral dysplasia
Spongy degeneration of central nervous system
Stickler syndrome type 1
Stickler syndrome, type I, nonsyndromic ocular
Strabismus, susceptibility to
Submucous cleft hard palate
Succinate-semialdehyde dehydrogenase deficiency
Succinyl-CoA acetoacetate transferase deficiency
Sulfite oxidase deficiency
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Symmetrical dyschromatosis of extremities
Systemic lupus erythematosus
TMEM165-congenital disorder of glycosylation
Tay-Sachs disease
Terminal osseous dysplasia-pigmentary defects syndrome
Thick eyebrow
Thick vermilion border
Thrombophilia
Thyroid cancer, nonmedullary, 2
Thyrotoxic periodic paralysis, susceptibility to, 1
Transcobalamin II deficiency
Transferrin serum level quantitative trait locus 2
Transient hyperphenylalaninemia
Tremor
Type 1 diabetes mellitus 20
Type I transferrin isoform profile
Tyrosinemia type I
Tyrosinemia type III
Variegate porphyria
Ventricular septal defect
Very long chain acyl-CoA dehydrogenase deficiency
Visual impairment
Wide nasal bridge
Wolff-Parkinson-White pattern
Wolfram syndrome
Wolfram-like syndrome
Wrinkly skin syndrome
X-linked erythropoietic protoporphyria
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked sideroblastic anemia 1
ABCC8 (11p15.1);
ABCD1 (Xq28);
ABCD4 (14q24.3);
ACAA1 (3p22.2);
ACAD9 (3q21.3)
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Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Ordering Information
Specimen Source:
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Buccal swab
Cell culture
Cord blood
Fetal blood
Fibroblasts
Fresh tissue
Frozen tissue
Isolated DNA
Peripheral (whole) blood
Saliva
View specimen requirements
Who can order: Help
Genetic Counselor
Health Care Provider
Licensed Physician
Test Order Code:
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FT-TP00436
Contact Policy:
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Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Decline to answer
Pre-test genetic counseling required:
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Post-test genetic counseling required:
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Recommended fields not provided:
Lab contact for this test,
Test strategy
Conditions
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Total conditions: 602
Condition/Phenotype
Identifier
Test Targets
Genes
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Total genes: 355
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;
Mutation Confirmation
Recommended fields not provided:
Clinical validity,
Clinical utility,
Target population,
What is the protocol for interpreting a variation as a VUS?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Availability:
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Tests performed
Analytical Validity:
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Analytical sensitivity, specificity and accuracy are >98%, 96% and 97% respectively.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Recommended fields not provided:
Test Confirmation,
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
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Not provided
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