List of diseases covered by Skeletal Dysplasia NGS panel

List of diseases covered by
Skeletal Dysplasia NGS panel

Gene Condition
ALPL Hypophosphatasia, adult; Hypophosphatasia, childhood;
Hypophosphatasia, infantile; Odontohypophosphatasia
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
ESCO2 Roberts syndrome; SC phocomelia 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
IL11RA Craniosynostosis and dental anomalies
MSX2 Craniosynostosis 2; Parietal foramina 1;
Parietal foramina with cleidocranial dysplasia
RECQL4 Baller-Gerold syndrome; RAPADILINO syndrome;
Rothmund-Thomson syndrome
ROR2 Robinow syndrome, autosomal recessive; Brachydactyly, type B1
SLC26A2 Achondrogenesis Ib; Atelosteogenesis, type II;
De la Chapelle dysplasia; Diastrophic dysplasia;
Epiphyseal dysplasia, multiple, 4
SOX9 Campomelic dysplasia
TRIP11 Achondrogenesis, type IA
TWIST1 Craniosynostosis 1; Robinow-Sorauf syndrome;
Saethre-Chotzen syndrome with or without eyelid anomalies;
Sweeney-Cox syndrome
WNT5A Robinow syndrome, autosomal dominant 1

Skeletal Dysplasia NGS panel

Skeletal Dysplasia
NGS panel

Genes: ALPL, COL2A1, ESCO2, FGFR1, FGFR2, FGFR3, IL11RA, MSX2, RECQL4, ROR2, SLC26A2, SOX9, TRIP11, TWIST1, WNT5A

List of diseases covered by the panel


Price / TAT: 1051 EUR / 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

Price / TAT: COL2A1 gene – 310 EUR / 4-6 weeks
TWIST1 gene – 310 EUR / 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

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.