Skeletal

SkeletalFor skeletal disorders we offer single gene diagnostics.

Below you can find all the skeletal disorders we currently offer. Please click on a disorder for more information about the price and to place your order. You can also visit our ordering site directly.




Single gene diagnostics:
  Updated 25th of September 2018

 

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

 

A

Achondrogenesis
Achondroplasia
Atelosteogenesis

B

Brachydactyly type b
Brachyolmia

C

C syndrome
Calcification of joints and arteries
Campomelic dysplasia
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Camurati-Engelmann disease
Cantu syndrome
Chudley-McCullough syndrome
Cranioectodermal dysplasia
Craniofrontonasal syndrome (CFNS)
Craniosynostosis

D

Diastrophic dysplasia
Distal arthrogryposis

E

Ellis-van Creveld syndrome

F

Faciogenital dysplasia (Aarskog-Scott syndrome)

H

hand-foot-genital syndrome
Hartsfield syndrome
Hypertrophic osteoarthropathy, primary
Hypophosphatasia

K

Klippel-Feil syndrome

L

LEOPARD syndrome
Lethal congenital contracture syndrome

M

Meier-Gorlin syndrome
Metachondromatosis / Enchondromatosis
Metatropic dysplasia
Microcephalic osteodysplastic primordial dwarfism
Microcephaly, primary
Multiple epiphyseal dysplasia
Multiple synostosis syndrome

N

Nail Patella syndrome

O

Oculodentodigital dysplasia (ODDD)
Orofaciodigital syndrome
Osteoarthritis with mild chondrodysplasia
Osteochondritis dissecans
Osteogenesis imperfecta
Osteopetrosis
Osteoporosis
Osteoporosis-pseudoglioma syndrome (OPPG)

P

Patella malformation syndrome
Polysyndactyly
Primary hypertrophic osteoarthropathy
Proximal symphalangism (SYM1)
Pycnodysostosis

R

Rickets due to defect in vitamin D 25-hydroxylation
Robinow syndrome

S

Schimke immunoosseous dysplasia
Simpson-Golabi-Behmel syndrome
Skeletal dysplasia
Small Patella syndrome
Spondyloepimetaphysal dysplasia
Spondyloepiphyseal dysplasia
Spondyloepiphyseal dysplasia tarda (SEDT)
Stickler syndrome

T

Thanatofore dysplasia
Torg-Winchester syndrome
Trichodontoosseus syndrome

V

Van den Ende-Gupta syndrome
Vitamin D-resistant rickets type IIA

W

Wiedemann-Steiner syndrome