List of diseases covered by Skeletal Dysplasia NGS panel

List of diseases covered by
Skeletal Dysplasia NGS panel

Gene Condition
AGPS Rhizomelic chondrodysplasia punctata, type 3
ALPL Hypophosphatasia, adult; Hypophosphatasia, childhood;
Hypophosphatasia, infantile; Odontohypophosphatasia
ARSL Chondrodysplasia punctata, X-linked recessive
CANT1 Desbuquois dysplasia 1; Epiphyseal dysplasia, multiple, 7
CCN6 Progressive pseudorheumatoid dysplasia
CHST3 Spondyloepiphyseal dysplasia with congenital joint dislocations
CLCN7 Hypopigmentation, organomegaly,
and delayed myelination and development;
Osteopetrosis, autosomal dominant 2;
Osteopetrosis, autosomal recessive 4
COL1A1 Ehlers-Danlos syndrome, arthrochalasia type, 1;
Caffey disease; Osteogenesis imperfecta, type I;
Osteogenesis imperfecta, type II;
Osteogenesis imperfecta, type III; Osteogenesis imperfecta, type IV
COL1A2 Ehlers-Danlos syndrome, arthrochalasia type, 2;
Ehlers-Danlos syndrome, cardiac valvular type;
Osteogenesis imperfecta, type II;
Osteogenesis imperfecta, type III; Osteogenesis imperfecta, type IV
COL11A1 Stickler syndrome, type II;
Fibrochondrogenesis 1; Marshall syndrome
COL11A2 Deafness, autosomal dominant 13;
Deafness, autosomal recessive 53; Fibrochondrogenesis 2;
Otospondylomegaepiphyseal dysplasia, autosomal dominant;
Otospondylomegaepiphyseal dysplasia, autosomal recessive
COL2A1 Stickler syndrome type 1;
Stickler sydrome, type I, nonsyndromic ocular;
Achondrogenesis, type II or hypochondrogenesis;
Avascular necrosis of the femoral head; Czech dysplasia;
Epiphyseal dysplasia, multiple, with myopia and deafness;
Kniest dysplasia; Legg-Calve-Perthes disease;
Legg-Calve-Perthes disease;
Osteoarthritis with mild chondrodysplasia;
Platyspondylic skeletal dysplasia, Torrance type; SED congenita;
SMED Strudwick type; Spondyloepiphyseal dysplasia, Stanescu type;
Spondyloperipheral dysplasia
COL9A1 Stickler syndrome, type IV; Epiphyseal dysplasia, multiple, 6
COL9A2 Stickler syndrome, type V; Epiphyseal dysplasia, multiple, 2
COL9A3 Epiphyseal dysplasia, multiple, 3, with or without myopathy;
Intervertebral disc disease, susceptibility to
COMP Epiphyseal dysplasia, multiple, 1; Pseudoachondroplasia
CRTAP Osteogenesis imperfecta, type VII
DDR2 Spondylometaepiphyseal dysplasia, short limb-hand type;
Warburg-Cinotti syndrome
DHCR24 Desmosterolosis
DVL1 Robinow syndrome, autosomal dominant 2
DYM Dyggve-Melchior-Clausen disease; Smith-McCort dysplasia
DYNC2H1 Short-rib thoracic dysplasia 3 with or without polydactyly
DYNC2I2 Short-rib thoracic dysplasia 11 with or without polydactyly
EBP Chondrodysplasia punctata, X-linked dominant; MEND syndrome
ESCO2 Roberts syndrome; SC phocomelia syndrome
EVC Weyers acrofacial dysostosis; Ellis-van Creveld syndrome
EVC2 Weyers acrofacial dysostosis; Ellis-van Creveld syndrome
FAM111A Gracile bone dysplasia; Kenny-Caffey syndrome, type 2
FAM20C Raine syndrome
FGFR1 Pfeiffer syndrome; Encephalocraniocutaneous lipomatosis;
Hartsfield syndrome; Hypogonadotropic hypogonadism 2
with or without anosmia; Jackson-Weiss syndrome;
Osteoglophonic dysplasia; Trigonocephaly 1
FGFR2 Apert syndrome; Beare-Stevenson cutis gyrata syndrome;
Antley-Bixler syndrome without genital anomalies or
disordered steroidogenesis; Bent bone dysplasia syndrome;
Craniofacial-skeletal-dermatologic dysplasia; Crouzon syndrome;
Jackson-Weiss syndrome; LADD syndrome;
Pfeiffer syndrome; Saethre-Chotzen syndrome;
Scaphocephaly, maxillary retrusion, and mental retardation
FGFR3 CATSHL syndrome; Achondroplasia;
Crouzon syndrome with acanthosis nigricans;
Hypochondroplasia; LADD syndrome; Muenke syndrome;
SADDAN; Thanatophoric dysplasia, type I;
Thanatophoric dysplasia, type II
FKBP10 Osteogenesis imperfecta, type XI; Bruck syndrome 1
FLNA FG syndrome 2; Cardiac valvular dysplasia, X-linked;
Congenital short bowel syndrome; Frontometaphyseal dysplasia 1;
Heterotopia, periventricular; Melnick-Needles syndrome;
Otopalatodigital syndrome, type I;
Otopalatodigital syndrome, type II;
Terminal osseous dysplasia
FLNB Atelosteogenesis, type I; Atelosteogenesis, type I;
Boomerang dysplasia; Larsen syndrome;
Spondylocarpotarsal synostosis syndrome
GNPAT Rhizomelic chondrodysplasia punctata, type 2
GPC6 Omodysplasia 1
HSPG2 Dyssegmental dysplasia, Silverman-Handmaker type;
Schwartz-Jampel syndrome, type 1
IDUA Mucopolysaccharidosis Ih (Hurler syndrome)
IFITM5 Osteogenesis imperfecta, type V
IFT80 Short-rib thoracic dysplasia 2 with or without polydactyly
IL11RA Craniosynostosis and dental anomalies
INPPL1 Opsismodysplasia
LBR Reynolds syndrome; Greenberg skeletal dysplasia;
Pelger-Huet anomaly; Pelger-Huet anomaly with mild skeletal anomalies
LIFR Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome
LRP5 Exudative vitreoretinopathy 4;
Hyperostosis, endosteal; Osteopetrosis, autosomal dominant 1;
Osteoporosis-pseudoglioma syndrome;
Polycystic liver disease 4 with or without kidney cysts;
van Buchem disease, type 2
MATN3 Spondyloepimetaphyseal dysplasia, Borochowitz Cormier-Daire type;
Osteoarthritis susceptibility 2; Epiphyseal dysplasia, multiple, 5
MMP13 Spondyloepimetaphyseal dysplasia, Missouri type;
Metaphyseal anadysplasia 1; Metaphyseal dysplasia, Spahr type
MMP9 Metaphyseal anadysplasia 2
MSX2 Craniosynostosis 2; Parietal foramina 1;
Parietal foramina with cleidocranial dysplasia
NEK1 Amyotrophic lateral sclerosis, susceptibility to, 24;
Short-rib thoracic dysplasia 6 with or without polydactyly
NOTCH2 Alagille syndrome 2; Hajdu-Cheney syndrome
NPR2 Acromesomelic dysplasia, Maroteaux type;
Epiphyseal chondrodysplasia, Miura type;
Short stature with nonspecific skeletal abnormalities
NSDHL CHILD syndrome; CK syndrome
PEX7 Peroxisome biogenesis disorder 9B;
Rhizomelic chondrodysplasia punctata, type 1
P3H1 Osteogenesis imperfecta, type VIII
PLOD2 Bruck syndrome 2
PPIB Osteogenesis imperfecta, type IX
PTDSS1 Lenz-Majewski hyperostotic dwarfism
PTH1R Chondrodysplasia, Blomstrand type; Eiken syndrome;
Failure of tooth eruption, primary; Metaphyseal chondrodysplasia,
Murk Jansen type
RECQL4 Baller-Gerold syndrome; RAPADILINO syndrome;
Rothmund-Thomson syndrome
ROR2 Robinow syndrome, autosomal recessive; Brachydactyly, type B1
SERPINH1 Osteogenesis imperfecta, type X;
Preterm premature rupture of the membranes, susceptibility to
SHOX Langer mesomelic dysplasia; Leri-Weill dyschondrosteosis;
Short stature, idiopathic familial
SLC26A2 Achondrogenesis Ib; Atelosteogenesis, type II;
De la Chapelle dysplasia; Diastrophic dysplasia;
Epiphyseal dysplasia, multiple, 4
SLC29A3 Histiocytosis-lymphadenopathy plus syndrome
SLC35D1 Schneckenbecken dysplasia
SOX9 Campomelic dysplasia
TBX5 Holt-Oram syndrome
TCIRG1 Osteopetrosis, autosomal recessive 1
TMEM38B Osteogenesis imperfecta, type XIV
TRIP11 Achondrogenesis, type IA
TRPV4 Avascular necrosis of femoral head, primary, 2;
Sodium serum level QTL 1; Brachyolmia type 3;
Digital arthropathy-brachydactyly, familial;
Hereditary motor and sensory neuropathy, type IIc;
Metatropic dysplasia;
Neuronopathy, distal hereditary motor, type VIII;
Parastremmatic dwarfism;
Scapuloperoneal spinal muscular atrophy;
SED, Maroteaux type;
Spondylometaphyseal dysplasia, Kozlowski type
TWIST1 Craniosynostosis 1; Robinow-Sorauf syndrome;
Saethre-Chotzen syndrome with or without eyelid anomalies;
Sweeney-Cox syndrome
WDR19 Cranioectodermal dysplasia 4;
Short-rib thoracic dysplasia 5 with or without polydactyly;
Nephronophthisis 13; Senior-Loken syndrome 8
WDR35 Cranioectodermal dysplasia 2;
Short-rib thoracic dysplasia 7 with or without polydactyly
WNT1 Osteogenesis imperfecta, type XV;
Osteoporosis, early-onset, susceptibility to
WNT5A Robinow syndrome, autosomal dominant 1
XYLT1 Pseudoxanthoma elasticum, modifier of severity of;
Desbuquois dysplasia 2

Skeletal Dysplasia NGS panel

Skeletal Dysplasia
NGS panel

Genes
(full
coding
region):
AGPS, ALPL, ARSL, CANT1, CCN6, CHST3, CLCN7, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CRTAP, DDR2, DHCR24, DVL1, DYM, DYNC2H1, DYNC2I2, EBP, ESCO2, EVC, EVC2, FAM111A, FAM20C, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB, GNPAT, GPC6, HSPG2, IDUA, IFITM5, IFT80, IL11RA, INPPL1, LBR, LIFR, LRP5, MATN3, MMP13, MMP9, MSX2, NEK1, NOTCH2, NPR2, NSDHL, P3H1, PEX7, PLOD2, PPIB, PTDSS1, PTH1R, RECQL4, ROR2, SERPINH1, SHOX, SLC26A2, SLC29A3, SLC35D1, SOX9, TBX5, TCIRG1, TMEM38B, TRIP11, TRPV4, TWIST1, WDR19, WDR35, WNT1, WNT5A, XYLT1

List of diseases covered by the panel


Lab method: NGS panel with CNV analysis

TAT: 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: COL2A1, TWIST1

Lab method: MLPA

TAT: 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis of selected regions

Lab method: Chromosomal Microarray Analysis

TAT: 2-4 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Expanded NGS panels

Usher syndrome NGS panel now includes 20 genes – ABHD12, CDH23, CIB2, CLRN1, COL4A6, DFNB31, DSPP, GIPC3, GPR98, HARS, KARS, LHFPL5, LOXHD1, MYO7A, PCDH15, PDZD7, TNC, USH2A, USH1C, and USH1G. Leber congenital amaurosis test has also been expanded to 20 genes – AIPL1, CABP4, CEP290, CRB1, CRX, GDF6, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, OTX2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, and TULP1. Skeletal dysplasia testing panel has been updated with two new genes – TRIP11 and WNT5A.