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Fulgent Genetics
Skeletal Dysplasias NGS Panel
Skeletal Dysplasias NGS Panel
At a Glance
Diagnosis;
Mutation Confirmation
Osteochondritis dissecans;
3M syndrome 1;
3M syndrome 2
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Osteochondritis dissecans
3M syndrome 1
3M syndrome 2
ADULT syndrome
Abnormal female external genitalia morphology
Abnormal hair quantity
Abnormal metacarpal morphology
Abnormal morphology of female internal genitalia
Abnormal palate morphology
Abnormal sacrum morphology
Abnormality of the skin
Absent earlobe
Absent hand
Absent radius
Accessory spleen
Acheiropodia
Achondrogenesis type II
Achondrogenesis, type IA
Achondrogenesis, type IB
Achondroplasia
Acrocallosal syndrome
Acrocapitofemoral dysplasia
Acrocephalosyndactyly type I
Acrodysostosis
Acrodysostosis 2 with or without hormone resistance
Acromesomelic dysplasia 1, Maroteaux type
Acromesomelic dysplasia 2B
Acromesomelic dysplasia 2C, Hunter-Thompson type
Acromesomelic dysplasia 3
Acromicric dysplasia
Adams-Oliver syndrome 1
Adult hypophosphatasia
Alagille syndrome due to a NOTCH2 point mutation
Angioid streaks
Ankle flexion contracture
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Anteverted nares
Antley-Bixler syndrome
Aplasia of the ulna
Aplasia/Hypoplasia affecting the eye
Aplasia/Hypoplasia of the earlobes
Aplasia/Hypoplasia of the iris
Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the thumb
Arterial calcification, generalized, of infancy, 1
Arthrogryposis multiplex congenita
Asphyxiating thoracic dystrophy 2
Asphyxiating thoracic dystrophy 3
Atelosteogenesis type I
Atelosteogenesis type II
Atelosteogenesis type III
Atrial septal defect
Autosomal dominant Robinow syndrome 1
Autosomal dominant hypocalcemia 1
Autosomal dominant hypophosphatemic rickets
Autosomal dominant inheritance
Autosomal dominant nonsyndromic hearing loss 13
Autosomal dominant osteopetrosis 1
Autosomal dominant osteopetrosis 2
Autosomal recessive Kenny-Caffey syndrome
Autosomal recessive Robinow syndrome
Autosomal recessive cutis laxa type 2B
Autosomal recessive hypophosphatemic bone disease
Autosomal recessive limb-girdle muscular dystrophy type 2L
Autosomal recessive nonsyndromic hearing loss 53
Autosomal recessive omodysplasia
Autosomal recessive osteopetrosis 1
Autosomal recessive osteopetrosis 2
Autosomal recessive osteopetrosis 4
Autosomal recessive osteopetrosis 5
Autosomal recessive osteopetrosis 7
Avascular necrosis of femoral head, primary, 1
Baller-Gerold syndrome
Bardet-Biedl syndrome
Barrel-shaped chest
Beare-Stevenson cutis gyrata syndrome
Beckwith-Wiedemann syndrome
Bent bone dysplasia syndrome 1
Bicornuate uterus
Biliary tract abnormality
Blue sclerae
Bone Paget disease
Bone mineral density quantitative trait locus 1
Boomerang dysplasia
Bowing of the long bones
Brachycephaly
Brachydactyly
Brachydactyly type A1
Brachydactyly type A1C
Brachydactyly type B1
Brachydactyly type B2
Brachydactyly type C
Brachydactyly type D
Brachydactyly type E1
Brachydactyly type E2
Brachydactyly-elbow wrist dysplasia syndrome
Brachydactyly-syndactyly syndrome
Brachyrachia (short spine dysplasia)
Bruck syndrome 2
COACH syndrome 1
Cafe-au-lait spot
Calcinosis
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
Camptomelic dysplasia
Carcinoma of pancreas
Cardiac valvular dysplasia, X-linked
Carney complex, type 1
Cataract
Cenani-Lenz syndactyly syndrome
Cervical cancer
Charcot-Marie-Tooth disease axonal type 2C
Charcot-Marie-Tooth disease type 2B1
Childhood hypophosphatasia
Chondrocalcinosis 2
Chondrodysplasia Blomstrand type
Chondrodysplasia punctata 2 X-linked dominant
Chondrosarcoma
Chromosome 2q37 deletion syndrome
Cleft palate
Cleft upper lip
Cleidocranial dysostosis
Clinodactyly
Clinodactyly of the 5th finger
Clubfoot
Cognitive impairment
Colonic neoplasm
Congenital absence of salivary gland
Congenital hypotrichosis with juvenile macular dystrophy
Congenital muscular dystrophy due to LMNA mutation
Conjunctival whitish salt-like deposits
Cornelia de Lange syndrome 1
Cranial nerve paralysis
Craniodiaphyseal dysplasia, autosomal dominant
Cranioectodermal dysplasia 1
Cranioectodermal dysplasia 2
Craniometaphyseal dysplasia, autosomal dominant
Crouzon syndrome
Crouzon syndrome-acanthosis nigricans syndrome
Cryptorchidism
Curry-Hall syndrome
Cushing syndrome
Cutis laxa with osteodystrophy
Cystic fibrosis
Cystic hygroma
D-2-hydroxyglutaric aciduria 2
Decreased renal tubular phosphate excretion
Decreased skull ossification
Delayed cranial suture closure
Dent disease type 1
Denticles
Dermatofibrosis lenticularis disseminata
Desbuquois dysplasia 1
Desmosterolosis
Diaphyseal dysplasia
Diastrophic dysplasia
Dilated cardiomyopathy 1A
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Disproportionate short-limb short stature
Disproportionate short-trunk short stature
Downslanted palpebral fissures
Duane-radial ray syndrome
Dyggve-Melchior-Clausen syndrome
EEM syndrome
Ectopia lentis 1, isolated, autosomal dominant
Ectrodactyly
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
Ehlers-Danlos syndrome progeroid type
Ehlers-Danlos syndrome, arthrochalasia type
Ehlers-Danlos syndrome, cardiac valvular type
Ehlers-Danlos syndrome, classic type
Ehlers-Danlos syndrome, musculocontractural type
Ehlers-Danlos syndrome, spondylocheirodysplastic type
Ehlers-Danlos syndrome, spondylodysplastic type, 2
Eiken syndrome
Elbow flexion contracture
Ellis-van Creveld syndrome
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Enamel hypoplasia
Endocrine-cerebro-osteodysplasia syndrome
Enlarged labia minora
Epidermal nevus
Epilepsy, idiopathic generalized, susceptibility to, 8
Epiphyseal dysplasia, multiple, 2
Epiphyseal dysplasia, multiple, 3
Epiphyseal dysplasia, multiple, 6
Essential thrombocythemia
Exostoses, multiple, type 2
Externally rotated/abducted legs
Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 4
Eyelid coloboma
FG syndrome 2
Fair hair
Familial X-linked hypophosphatemic vitamin D refractory rickets
Familial aplasia of the vermis
Familial atrial myxoma
Familial digital arthropathy-brachydactyly
Familial expansile osteolysis
Familial hypocalciuric hypercalcemia
Familial partial lipodystrophy, Dunnigan type
Familial scaphocephaly syndrome, McGillivray type
Feingold syndrome type 1
Femoral bowing
Fetal growth restriction
Fibrochondrogenesis 1
Fibrochondrogenesis 2
Finger syndactyly
Frank-Ter Haar syndrome
Frontal encephalocele
Frontometaphyseal dysplasia 1
Fuhrmann syndrome
Gastrointestinal hemorrhage
Geleophysic dysplasia 2
Generalized juvenile polyposis/juvenile polyposis coli
Geroderma osteodysplastica
Ghosal hematodiaphyseal dysplasia
Glaucoma
Glioma susceptibility 1
Global developmental delay
Gnathodiaphyseal dysplasia
Grebe syndrome
Greig cephalopolysyndactyly syndrome
Hajdu-Cheney syndrome
Hamartoma of hypothalamus
Hand oligodactyly
Heart-hand syndrome, Slovenian type
Hemivertebrae
Hemochromatosis type 1
Hereditary disease
Heterotopia, periventricular, X-linked dominant
High palate
Hip contracture
Holoprosencephaly 3
Holt-Oram syndrome
Horseshoe kidney
Hutchinson-Gilford syndrome
Hydrocephalus
Hydrolethalus syndrome 2
Hyperlordosis
Hyperphosphatasemia tarda
Hyperphosphatasemia with bone disease
Hyperphosphatasia with intellectual disability syndrome 1
Hyperphosphatemia
Hypertelorism
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1
Hypochondroplasia
Hypogonadotropic hypogonadism 2 with or without anosmia
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Hypoparathyroidism-retardation-dysmorphism syndrome
Hypophosphatemic rickets, X-linked recessive
Hypophosphatemic rickets, autosomal recessive, 1
Hypophosphatemic rickets, autosomal recessive, 2
Hypopigmentation-punctate palmoplantar keratoderma syndrome
Hypoplasia of the zygomatic bone
Hypospadias
IMAGe syndrome
Increased renal tubular phosphate reabsorption
Infantile cortical hyperostosis
Infantile hypophosphatasia
Inguinal hernia
Intellectual disability
Intervertebral disc disorder
Intestinal polyposis
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
Isolated congenital digital clubbing
Isolated microcephaly
Jackson-Weiss syndrome
Joint laxity
Joubert syndrome 5
Joubert syndrome 6
Joubert syndrome 7
Joubert syndrome 9
Juvenile myelomonocytic leukemia
Juvenile onset
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Keutel syndrome
Knee flexion contracture
Kniest dysplasia
Kyphosis
LEOPARD syndrome 1
Larsen syndrome
Larsen-like syndrome, B3GAT3 type
Leber congenital amaurosis 10
Legg-Calve-Perthes disease
Lethal Kniest-like syndrome
Lethal osteosclerotic bone dysplasia
Lethal tight skin contracture syndrome
Leukocyte adhesion deficiency 3
Levy-Hollister syndrome
Limb-mammary syndrome
Long penis
Low back pain
Low-set ears
MASS syndrome
Macrocephaly
Malar flattening
Malformation of the heart and great vessels
Malignant tumor of testis
Malignant tumor of urinary bladder
Mandibuloacral dysplasia with type A lipodystrophy
Mandibuloacral dysplasia with type B lipodystrophy
Marfan syndrome
Marshall syndrome
McCune-Albright syndrome
Meckel syndrome, type 1
Meckel syndrome, type 3
Meckel syndrome, type 4
Meckel syndrome, type 5
Meckel syndrome, type 6
Melnick-Needles syndrome
Melorheostosis
Metachondromatosis
Metaphyseal anadysplasia 2
Metaphyseal chondrodysplasia, Jansen type
Metaphyseal chondrodysplasia, Schmid type
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
Metatropic dysplasia
Microcephalic osteodysplastic primordial dwarfism type II
Micrognathia
Microphthalmia
Microphthalmia, isolated, with coloboma 5
Midface capillary hemangioma
Miyoshi muscular dystrophy 3
Muenke syndrome
Multicentric carpo-tarsal osteolysis with or without nephropathy
Multicentric osteolysis nodulosis arthropathy spectrum
Multicystic kidney dysplasia
Multiple Epiphyseal Dysplasia, Dominant
Multiple congenital anomalies
Multiple congenital exostosis
Multiple epiphyseal dysplasia type 1
Multiple epiphyseal dysplasia type 4
Multiple epiphyseal dysplasia type 5
Multiple epiphyseal dysplasia, Beighton type
Multiple prenatal fractures
Multiple synostoses syndrome 2
Myhre syndrome
Namaqualand hip dysplasia
Narrow naris
Neonatal severe primary hyperparathyroidism
Neoplasm of stomach
Nephrocalcinosis
Nephronophthisis 11
Neuronopathy, distal hereditary motor, autosomal dominant 8
Noonan syndrome 1
Nystagmus
Obesity
Oculootoradial syndrome
Opacification of the corneal stroma
Orofacial cleft
Osteoarthritis of distal interphalangeal joint
Osteoarthritis, hip
Osteogenesis imperfecta
Osteogenesis imperfecta type 10
Osteogenesis imperfecta type 11
Osteogenesis imperfecta type 12
Osteogenesis imperfecta type 13
Osteogenesis imperfecta type 5
Osteogenesis imperfecta type 6
Osteogenesis imperfecta type 7
Osteogenesis imperfecta type 9
Osteogenesis imperfecta type I
Osteogenesis imperfecta type III
Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta, perinatal lethal
Osteoglophonic dysplasia
Osteopenia
Osteopetrosis with renal tubular acidosis
Osteoporosis with pseudoglioma
Oto-palato-digital syndrome, type I
Oto-palato-digital syndrome, type II
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Otospondylomegaepiphyseal dysplasia, autosomal recessive
PDA1
PYCR1-related de Barsy syndrome
Pallister-Hall syndrome
Papillary thyroid carcinoma
Parastremmatic dwarfism
Patellar aplasia
Pelviscapular dysplasia
Peroxisome biogenesis disorder 9B
Pfeiffer syndrome
Phocomelia
Phytanic acid storage disease
Pigmented nodular adrenocortical disease, primary, 1
Platyspondylic dysplasia, Torrance type
Platyspondyly
Polycystic kidney disease
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
Polydactyly of a triphalangeal thumb
Polyhydramnios
Polysyndactyly 4
Postaxial polydactyly
Posterior rib fusion
Posteriorly rotated ears
Postmenopausal osteoporosis
Premature birth
Premature separation of centromeric heterochromatin
Preterm premature rupture of membranes
Primary failure of tooth eruption
Progressive osseous heteroplasia
Progressive pseudorheumatoid dysplasia
Prominent occiput
Proptosis
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
Proximal symphalangism 1A
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Pseudohypoparathyroidism
Pseudohypoparathyroidism type 1B
Pseudohypoparathyroidism type 1C
Pseudopseudohypoparathyroidism
Pyknodysostosis
Radial bowing
Radial deviation of finger
Radioulnar synostosis
Rapadilino syndrome
Rapp-Hodgkin syndrome
Rectal neoplasm
Recurrent fractures
Recurrent respiratory infections
Rhizomelic chondrodysplasia punctata type 1
Rhizomelic chondrodysplasia punctata type 2
Rhizomelic chondrodysplasia punctata type 3
Roberts-SC phocomelia syndrome
Rothmund-Thomson syndrome
Round face
Saethre-Chotzen syndrome
Saldino-Mainzer syndrome
Sandal gap
Scapuloperoneal spinal muscular atrophy
Schimke immuno-osseous dysplasia
Schinzel phocomelia syndrome
Schizencephaly
Schneckenbecken dysplasia
Schwartz-Jampel syndrome
Sclerosteosis 1
Sclerosteosis 2
Scoliosis
Seizure
Senior-Loken syndrome 6
Sensorineural hearing loss disorder
Severe short stature
Shallow orbits
Short metacarpal
Short neck
Short thorax
Short thumb
Short-rib thoracic dysplasia 6 with or without polydactyly
Short-rib thoracic dysplasia 7 with or without polydactyly
Single transverse palmar crease
Slender long bone
Smith-McCort dysplasia 1
Sodium serum level quantitative trait locus 1
Solitary median maxillary central incisor syndrome
Somatotroph adenoma
Sparse hair
Spina bifida occulta
Split hand-foot malformation 4
Spondylo-megaepiphyseal-metaphyseal dysplasia
Spondylocarpotarsal synostosis syndrome
Spondylocostal dysostosis
Spondylocostal dysostosis 2, autosomal recessive
Spondylocostal dysostosis 3, autosomal recessive
Spondylocostal dysostosis 4, autosomal recessive
Spondyloenchondrodysplasia with immune dysregulation
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
Spondyloepimetaphyseal dysplasia with multiple dislocations
Spondyloepimetaphyseal dysplasia, Maroteaux type
Spondyloepimetaphyseal dysplasia, Missouri type
Spondyloepimetaphyseal dysplasia, PAPSS2 type
Spondyloepimetaphyseal dysplasia, aggrecan type
Spondyloepimetaphyseal dysplasia, matrilin-3 type
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
Spondyloepiphyseal dysplasia congenita
Spondyloepiphyseal dysplasia with congenital joint dislocations
Spondyloepiphyseal dysplasia with metatarsal shortening
Spondyloepiphyseal dysplasia, Kimberley type
Spondylometaphyseal dysplasia
Spondylometaphyseal dysplasia, Kozlowski type
Spondyloperipheral dysplasia
Stapes ankylosis with broad thumbs and toes
Stickler syndrome type 1
Stickler syndrome type 2
Stickler syndrome, type 4
Stickler syndrome, type 5
Stickler syndrome, type I, nonsyndromic ocular
Stiff skin syndrome
Stillbirth
Stroke, susceptibility to, 1
Stuve-Wiedemann syndrome
Symphalangism, proximal, 1B
Symphalangism-brachydactyly syndrome
Syndactyly
Syndactyly type 4
Syndactyly type 5
Synostosis of carpal bones
Synpolydactyly type 1
Synpolydactyly type 2
TWIST1-related craniosynostosis
Talipes equinovalgus
Tall stature-scoliosis-macrodactyly of the great toes syndrome
Tarsal-carpal coalition syndrome
Taurodontism
Temtamy preaxial brachydactyly syndrome
Terminal osseous dysplasia-pigmentary defects syndrome
Tetraamelia syndrome 1
Thanatophoric dysplasia type 1
Thanatophoric dysplasia, type 2
Thin ribs
Thrombocytopenia
Thromboxane synthetase deficiency
Tibial bowing
Townes-Brocks syndrome 1
Tricho-dento-osseous syndrome
Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III
Trigonocephaly 1
Tumoral calcinosis, hyperphosphatemic, familial, 1
Type 1 collagen overmodification
Type 2 diabetes mellitus
Type A2 brachydactyly
Ulnar-mammary syndrome
Underdeveloped nasal alae
Underdeveloped supraorbital ridges
Upper limb phocomelia
Upslanted palpebral fissure
VATER association
Van Buchem disease type 2
Vascular calcification
Ventricular septal defect
Vertebral compression fracture
Vertebral fusion
Vertebral segmentation defect
Weill-Marchesani syndrome 2, dominant
Wide anterior fontanel
Wide nasal bridge
Wolcott-Rallison dysplasia
Wormian bones
Worth disease
Wrinkly skin syndrome
Wrist flexion contracture
X-linked chondrodysplasia punctata 1
X-linked recessive nephrolithiasis with renal failure
ACAN (15q26.1);
ACP5 (19p13.2);
AGPS (2q31.2);
ALPL (1p36.12);
ANKH (5p15.2)
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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-TP00225
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: 543
Condition/Phenotype
Identifier
Test Targets
Genes
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Total genes: 178
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
Regulatory Approval
FDA Review:
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Not provided
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