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Fulgent Genetics
Beacon Expanded Male Carrier Screening Panel
Beacon Expanded Male Carrier Screening Panel
At a Glance
Diagnosis;
Mutation Confirmation
Progressive familial intrahepatic cholestasis type 2;
3 beta-Hydroxysteroid dehydrogenase deficiency;
3-Methylglutaconic aciduria type 3
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Progressive familial intrahepatic cholestasis type 2
3 beta-Hydroxysteroid dehydrogenase deficiency
3-Methylglutaconic aciduria type 3
3-methylcrotonyl-CoA carboxylase 1 deficiency
3-methylcrotonyl-CoA carboxylase 2 deficiency
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
ALG6-congenital disorder of glycosylation 1C
Abetalipoproteinaemia
Abnormal acetabulum morphology
Abnormal blistering of the skin
Abnormal eyebrow morphology
Abnormal female external genitalia morphology
Abnormal fingernail morphology
Abnormal hair quantity
Abnormal leukocyte morphology
Abnormal metacarpal morphology
Abnormal morphology of female internal genitalia
Abnormal nail morphology
Abnormal oral cavity morphology
Abnormal palate morphology
Abnormal testis morphology
Abnormality of coagulation
Abnormality of immune system physiology
Abnormality of neutrophils
Abnormality of the pharynx
Abnormality of the skin
Absent earlobe
Absent radius
Accessory spleen
Achondrogenesis, type IB
Achromatopsia 3
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Acute lymphoid leukemia
Acyl-CoA dehydrogenase 9 deficiency
Acyl-CoA oxidase deficiency
Adult hypophosphatasia
Adult neuronal ceroid lipofuscinosis
Adult polyglucosan body disease
Age related macular degeneration 5
Agenesis of the corpus callosum with peripheral neuropathy
Aicardi-Goutieres syndrome 5
Alkaptonuria
Alopecia
Alstrom syndrome
Aminoglycoside-induced deafness
Anauxetic dysplasia 1
Anemia
Ankle flexion contracture
Anonychia
Aplasia of the ulna
Aplasia/Hypoplasia affecting the eye
Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the earlobes
Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the skin
Aplasia/Hypoplasia of the thumb
Aplastic anemia
Aplastic/hypoplastic toenail
Apnea, central sleep
Areflexia
Arginase deficiency
Argininosuccinate lyase deficiency
Aromatase deficiency
Aromatase excess syndrome
Arthrogryposis multiplex congenita
Aspartylglucosaminuria
Asthma
Ataxia-telangiectasia syndrome
Atelosteogenesis type II
Atrial septal defect
Autosomal dominant Alport syndrome
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
Autosomal dominant nonsyndromic hearing loss 11
Autosomal dominant nonsyndromic hearing loss 3A
Autosomal dominant nonsyndromic hearing loss 3B
Autosomal recessive Alport syndrome
Autosomal recessive DOPA responsive dystonia
Autosomal recessive Parkinson disease 14
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy type 2C
Autosomal recessive limb-girdle muscular dystrophy type 2D
Autosomal recessive limb-girdle muscular dystrophy type 2E
Autosomal recessive limb-girdle muscular dystrophy type 2F
Autosomal recessive limb-girdle muscular dystrophy type 2I
Autosomal recessive limb-girdle muscular dystrophy type 2M
Autosomal recessive limb-girdle muscular dystrophy type 2O
Autosomal recessive multiple pterygium syndrome
Autosomal recessive nonsyndromic hearing loss 12
Autosomal recessive nonsyndromic hearing loss 18A
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal recessive nonsyndromic hearing loss 1B
Autosomal recessive nonsyndromic hearing loss 2
Autosomal recessive nonsyndromic hearing loss 23
Autosomal recessive nonsyndromic hearing loss 4
Autosomal recessive nonsyndromic hearing loss 77
Autosomal recessive osteopetrosis 1
Autosomal recessive polycystic kidney disease
Autosomal recessive spinocerebellar ataxia 7
Avascular necrosis
Bardet-Biedl syndrome
Bartter disease type 4A
Benign familial hematuria
Benign recurrent intrahepatic cholestasis type 2
Bernard Soulier syndrome
Bernard-Soulier syndrome, type A2, autosomal dominant
Bicornuate uterus
Bifid uvula
Bifunctional peroxisomal enzyme deficiency
Bilateral frontoparietal polymicrogyria
Biliary tract abnormality
Bilirubin, serum level of, quantitative trait locus 1
Biotinidase deficiency
Bloom syndrome
Blue sclerae
Bone marrow hypocellularity
Bowing of the long bones
Brachycephaly
Brachydactyly
Broad neck
Bronchiectasis with or without elevated sweat chloride 1
COACH syndrome 1
Cafe-au-lait spot
Carious teeth
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
Carpenter syndrome
Cataract
Cellular immunodeficiency
Cerebral atrophy
Cerebral calcification
Cerebral cortical atrophy
Cerebrooculofacioskeletal syndrome 1
Ceroid lipofuscinosis, neuronal, 6A
Charcot-Marie-Tooth disease type 4D
Charlevoix-Saguenay spastic ataxia
Chilblain lupus 2
Childhood hypophosphatasia
Cholestanol storage disease
Chorea-acanthocytosis
Chronic bronchitis
Chédiak-Higashi syndrome
Cirrhosis of liver
Citrullinemia type I
Citrullinemia type II
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Classic homocystinuria
Cleft palate
Cleft upper lip
Clinodactyly
Clinodactyly of the 5th finger
Coarse metaphyseal trabecularization
Cobalamin C disease
Cockayne syndrome type 1
Cockayne syndrome type 2
Cognitive impairment
Cohen syndrome
Colitis
Combined PSAP deficiency
Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency with skin granulomas
Combined malonic and methylmalonic acidemia
Congenital amegakaryocytic thrombocytopenia
Congenital bilateral aplasia of vas deferens from CFTR mutation
Congenital cerebellar hypoplasia
Congenital hereditary endothelial dystrophy of cornea
Congenital hyperammonemia, type I
Congenital ichthyosis of skin
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Congenital lipoid adrenal hyperplasia due to STAR deficency
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
Congenital myasthenic syndrome 4C
Congenital pontocerebellar hypoplasia type 1
Congenital secretory diarrhea, chloride type
Corneal dystrophy, Fuchs endothelial, 4
Corneal dystrophy-perceptive deafness syndrome
Corticosterone 18-monooxygenase deficiency
Corticosterone methyloxidase type 2 deficiency
Cough
Cranial nerve paralysis
Crigler-Najjar syndrome
Crigler-Najjar syndrome, type II
Cryptorchidism
Curry-Hall syndrome
Cystic fibrosis
Cystic hygroma
DE SANCTIS-CACCHIONE SYNDROME
Decreased circulating antibody concentration
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Deficiency of acetyl-CoA acetyltransferase
Deficiency of alpha-mannosidase
Deficiency of butyryl-CoA dehydrogenase
Deficiency of galactokinase
Deficiency of guanidinoacetate methyltransferase
Deficiency of hydroxymethylglutaryl-CoA lyase
Deficiency of steroid 11-beta-monooxygenase
Deficiency of steroid 17-alpha-monooxygenase
Dental crowding
Depressed nasal bridge
Diabetes insipidus, nephrogenic, autosomal
Diabetes mellitus
Diabetes mellitus, transient neonatal, 2
Diabetes mellitus, transient neonatal, 3
Diastrophic dysplasia
Dihydropyrimidine dehydrogenase deficiency
Dilated cardiomyopathy 1L
Dilated cardiomyopathy 1X
Dislocated radial head
Displacement of the urethral meatus
Distal myopathy with anterior tibial onset
Dominant beta-thalassemia
Dominant dystrophic epidermolysis bullosa with absence of skin
Downslanted palpebral fissures
Dysarthria
Dyskeratosis congenita, autosomal dominant 1
Dyskeratosis congenita, autosomal recessive 1
Dysmetria
Ehlers-Danlos syndrome, dermatosparaxis type
Elbow flexion contracture
Ellis-van Creveld syndrome
Encephalopathy, acute, infection-induced, susceptibility to, 4
Enhanced S-cone syndrome
Enlarged labia minora
Epidermolysis bullosa pruriginosa
Esophageal stenosis
Ethylmalonic encephalopathy
Extramedullary hematopoiesis
Eyelid coloboma
Failure to thrive
Fair hair
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Familial aplasia of the vermis
Familial cancer of breast
Familial hypokalemia-hypomagnesemia
Familial isolated deficiency of vitamin E
Familial medullary thyroid carcinoma
Fanconi anemia complementation group A
Fanconi anemia complementation group C
Fanconi anemia complementation group G
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Fetal akinesia deformation sequence 1
Fetal growth restriction
Fetal hemoglobin quantitative trait locus 1
Finger syndactyly
Finnish congenital nephrotic syndrome
Frontal encephalocele
Fumarase deficiency
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
GNE myopathy
GNPTG-mucolipidosis
GRACILE syndrome
Gait ataxia
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 dominant dystrophic epidermolysis bullosa
Generalized hyperpigmentation
Gilbert syndrome
Glaucoma
Glaucoma 3, primary infantile, B
Glaucoma 3A
Global developmental delay
Glucocorticoid-remediable aldosteronism
Glucose-6-phosphate transport defect
Glutaric aciduria, type 1
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Glycogen storage disease type III
Glycogen storage disease, type II
Glycogen storage disease, type IV
Glycogen storage disease, type V
Glycogen storage disease, type VII
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
Hand oligodactyly
Hb SS disease
Hearing impairment
Heinz body anemia
Hemochromatosis type 3
Hemoglobin H disease
Heparan sulfate excretion in urine
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Hepatomegaly
Hereditary acrodermatitis enteropathica
Hereditary disease
Hereditary factor XI deficiency disease
Hereditary fructosuria
Hereditary insensitivity to pain with anhidrosis
Hereditary pancreatitis
Hereditary spastic paraplegia 15
Hermansky-Pudlak syndrome 1
Hermansky-Pudlak syndrome 3
Hidrotic ectodermal dysplasia syndrome
High palate
Hip contracture
Histiocytic medullary reticulosis
Holocarboxylase synthetase deficiency
Horseshoe kidney
Hurler syndrome
Hydrocephalus
Hydrolethalus syndrome 1
Hyperammonemia, type III
Hyperhidrosis
Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 2
Hypermelanotic macule
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Hypertelorism
Hypertonia
Hypopigmentation of hair
Hypopigmented skin patches
Hypoplasia of the corpus callosum
Hypoplasia of the zygomatic bone
Hypospadias
Hypotonia
Ichthyosis, hystrix-like, with hearing loss
Incoordination
Increased circulating antibody concentration
Infantile GM1 gangliosidosis
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Infantile hypophosphatasia
Infantile neuroaxonal dystrophy
Inflammatory abnormality of the eye
Intellectual disability
Interstitial lung disease 2
Irido-corneo-trabecular dysgenesis
Isolated microcephaly
Isolated microphthalmia 2
Isovaleryl-CoA dehydrogenase deficiency
Joubert syndrome 2
Joubert syndrome 5
Joubert syndrome 7
Joubert syndrome with renal defect
Junctional epidermolysis bullosa gravis of Herlitz
Junctional epidermolysis bullosa, non-Herlitz type
Juvenile nephropathic cystinosis
Kartagener syndrome
Keratan sulfate excretion in urine
Knee flexion contracture
Knuckle pads, deafness AND leukonychia syndrome
Krabbe disease due to saposin A deficiency
Laryngo-onycho-cutaneous syndrome
Leber congenital amaurosis 10
Leber congenital amaurosis 13
Leber congenital amaurosis 2
Leber congenital amaurosis 5
Leber congenital amaurosis 8
Leigh syndrome
Lethal arthrogryposis-anterior horn cell disease syndrome
Lethal congenital contracture syndrome 1
Lethal multiple pterygium syndrome
Leucine-induced hypoglycemia
Leukopenia
Lewy body dementia
Liver failure
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long penis
Low anterior hairline
Low-set ears
Lucey-Driscoll syndrome
Lung carcinoma
Lymphoma
Lysinuric protein intolerance
Lysosomal acid lipase deficiency
MHC class II deficiency
MPI-congenital disorder of glycosylation
Malabsorption
Malar flattening
Malaria, susceptibility to
Malformation of the heart and great vessels
Maple syrup urine disease
Meckel syndrome, type 1
Meckel syndrome, type 2
Meckel syndrome, type 4
Meckel syndrome, type 5
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Megalencephalic leukoencephalopathy with subcortical cysts 1
Merosin deficient congenital muscular dystrophy
Metabolic syndrome X
Metachromatic leukodystrophy
Metaphyseal chondrodysplasia, McKusick type
Metaphyseal dysplasia without hypotrichosis
Methylcobalamin deficiency type cblE
Methylmalonic aciduria and homocystinuria type cblD
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Methylmalonic aciduria, cblA type
Methylmalonic aciduria, cblB type
Microcephaly, normal intelligence and immunodeficiency
Micrognathia
Microphthalmia
Microphthalmia, isolated, with coloboma 3
Midface capillary hemangioma
Mitochondrial DNA depletion syndrome 1
Mitochondrial DNA depletion syndrome 4b
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Mitochondrial complex I deficiency
Mitochondrial complex III deficiency nuclear type 1
Mitochondrial trifunctional protein deficiency
Miyoshi muscular dystrophy 1
Mucolipidosis type II
Mucolipidosis type IV
Mucopolysaccharidosis
Mucopolysaccharidosis type 6
Mucopolysaccharidosis type 7
Mucopolysaccharidosis, MPS-I-H/S
Mucopolysaccharidosis, MPS-I-S
Mucopolysaccharidosis, MPS-III-A
Mucopolysaccharidosis, MPS-III-B
Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-D
Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-B
Multicystic kidney dysplasia
Multiple acyl-CoA dehydrogenase deficiency
Multiple epiphyseal dysplasia type 4
Multiple sulfatase deficiency
Muscle eye brain disease
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Muscular dystrophy-dystroglycanopathy type B5
Mutilating keratoderma
Myasthenic syndrome, congenital, 1B, fast-channel
Myasthenic syndrome, slow-channel congenital
Myopathy, lactic acidosis, and sideroblastic anemia 1
Nail dystrophy
Narrow naris
Nasal polyposis
Nemaline myopathy 2
Neonatal intrahepatic cholestasis due to citrin deficiency
Neoplasm
Neoplasm of the pancreas
Nephronophthisis 1
Nephropathic cystinosis
Nephrotic syndrome, type 2
Neu-Laxova syndrome
Neural tube defects, folate-sensitive
Neurodegeneration with brain iron accumulation 2B
Neuronal ceroid lipofuscinosis 1
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
Neutropenia
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type C1
Niemann-Pick disease, type C2
Non-acquired combined pituitary hormone deficiency with spine abnormalities
Non-ketotic hyperglycinemia
Nonarteritic anterior ischemic optic neuropathy, susceptibility to
Nonsyndromic congenital nail disorder 8
Nystagmus
Ocular cystinosis
Odonto-onycho-dermal dysplasia
Opacification of the corneal stroma
Optic atrophy 3
Ornithine aminotransferase deficiency
Orofacial cleft
PDA1
PHGDH deficiency
PMM2-congenital disorder of glycosylation
Palmoplantar keratoderma
Palmoplantar keratoderma-deafness syndrome
Parkinson disease
Patellar aplasia
Pendred syndrome
Permanent neonatal diabetes mellitus
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
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 9B
Perrault syndrome
Phenylketonuria
Phocomelia
Phosphate transport defect
Phytanic acid storage disease
Pigmented paravenous retinochoroidal atrophy
Pili torti-deafness syndrome
Pituitary hormone deficiency, combined, 2
Polycystic kidney disease
Polyglandular autoimmune syndrome, type 1
Polyhydramnios
Polymicrogyria, bilateral perisylvian, autosomal recessive
Pontocerebellar hypoplasia type 1B
Pontocerebellar hypoplasia type 2D
Pontocerebellar hypoplasia type 6
Posteriorly rotated ears
Premature birth
Premature graying of hair
Premature separation of centromeric heterochromatin
Pretibial dystrophic epidermolysis bullosa
Primary ciliary dyskinesia
Primary ciliary dyskinesia 14
Primary ciliary dyskinesia 16
Primary ciliary dyskinesia 17
Primary ciliary dyskinesia 3
Primary ciliary dyskinesia 9
Primary hyperoxaluria type 3
Primary hyperoxaluria, type I
Primary hyperoxaluria, type II
Primary myelofibrosis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Prominent forehead
Propionic acidemia
Proptosis
Pseudo von Willebrand disease
Pseudo-Hurler polydystrophy
Pulmonary hypertension, neonatal, susceptibility to
Pyknodysostosis
Pyruvate carboxylase deficiency
Pyruvate dehydrogenase E1-beta deficiency
Pyruvate dehydrogenase E3 deficiency
Radial deviation of finger
Radioulnar synostosis
Recessive dystrophic epidermolysis bullosa
Recurrent fractures
Recurrent otitis media
Recurrent respiratory infections
Reduced bone mineral density
Reduced tendon reflexes
Renal carnitine transport defect
Renal tubular acidosis with progressive nerve deafness
Respiratory insufficiency due to defective ciliary clearance
Retinitis pigmentosa
Retinitis pigmentosa 12
Retinitis pigmentosa 20
Retinitis pigmentosa 25
Retinitis pigmentosa 26
Retinitis pigmentosa 28
Retinitis pigmentosa 37
Retinitis pigmentosa 39
Retinitis pigmentosa 59
Retinitis pigmentosa 61
Rheumatoid arthritis
Rhizomelic chondrodysplasia punctata type 1
Rhizomelic chondrodysplasia punctata type 3
Roberts-SC phocomelia syndrome
Round face
Salla disease
Sandal gap
Sandhoff disease
Sarcotubular myopathy
SchC6pf-Schulz-Passarge syndrome
Schimke immuno-osseous dysplasia
Scoliosis
Seizure
Senior-Loken syndrome 1
Senior-Loken syndrome 6
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Severe combined immunodeficiency due to DCLRE1C deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Severe congenital neutropenia
Severe early-childhood-onset retinal dystrophy
Shallow orbits
Short neck
Short thumb
Sialic acid storage disease, severe infantile type
Sialuria
Single transverse palmar crease
Situs inversus
Sjögren-Larsson syndrome
Skin ulcer
Smith-Lemli-Opitz syndrome
Sparse hair
Spastic gait
Spastic paraplegia
Sphingolipid activator protein 1 deficiency
Splenomegaly
Spondylocostal dysostosis
Spondylocostal dysostosis 2, autosomal recessive
Spongy degeneration of central nervous system
Steel syndrome
Stillbirth
Stuve-Wiedemann syndrome
Subcutaneous hemorrhage
Submucous cleft hard palate
Syndactyly
Synostosis of carpal bones
TWIST1-related craniosynostosis
Talipes equinovalgus
Tay-Sachs disease
Telangiectasia of the skin
Thrombocythemia 2
Thrombocytopenia
Tooth agenesis, selective, 4
Tracheoesophageal fistula
Transient bullous dermolysis of the newborn
Trichohepatoenteric syndrome 1
Type 2 diabetes mellitus
Tyrosinemia type I
Tyrosinemia type II
UV-sensitive syndrome 1
UV-sensitive syndrome 2
Underdeveloped nasal alae
Underdeveloped supraorbital ridges
Upper limb phocomelia
Usher syndrome type 1
Usher syndrome type 1C
Usher syndrome type 1D
Usher syndrome type 1F
Usher syndrome type 2A
Usher syndrome type 3
Vanishing white matter disease
Ventricular septal defect
Very long chain acyl-CoA dehydrogenase deficiency
Walker-Warburg congenital muscular dystrophy
Wide nasal bridge
Wilson disease
Wolcott-Rallison dysplasia
Wormian bones
Wrist flexion contracture
X-linked chondrodysplasia punctata 1
X-linked mixed hearing loss with perilymphatic gusher
Xeroderma pigmentosum group A
Xeroderma pigmentosum, group C
alpha Thalassemia
beta Thalassemia
ABCB11 (2q31.1);
ABCC8 (11p15.1);
ACAD9 (3q21.3);
ACADM (1p31.1);
ACADS (12q24.31)
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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-TP01012
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: 638
Condition/Phenotype
Identifier
Test Targets
Genes
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Total genes: 300
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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