Multiple congenital anomalies

Multi-OrganFor multiple congenital anomalies (MCA) we offer exome sequencing diagnostics, multiple gene diagnostics, single gene diagnostics and array diagnostics.

Below you can find all the multi-organ 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.


Exome sequencing diagnostics:
 

Multiple gene diagnostics:
 

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

 

#

3M Syndrome
46XY Sex reversal

A

acrocallosal syndrome
Acrofacial dysostosis
AEC syndrome
Alstrom syndrome
Angelman syndrome
Arthrogryposis, renal dysfuntion and cholestasis 2
Arts syndrome
Asphyxiating thoracic dystrophy (Jeune syndrome)

B

Bannayan-Riley-Ruvalcaba syndrome
Baraitser-Winter syndrome
Bardet-Biedl syndrome
Basal cell nevus syndrome
Blepharophimosis, epicantus inversus and ptosis
Bohring-Opitz syndrome
Branchio-oculo-facio syndrome (BOF)
Brittle cornea syndrome
Brunner syndrome

C

Campomelic dysplasia
Cardio-Facio-Cutaneous syndrome (CFC)
Cerebrooculofacioskeletal syndrome
CHARGE syndrome
CHILD syndrome
Chondrodysplasia punctata
Ciliopathies (WES)
Cockayne syndrome
Coffin-Lowry syndrome
Coffin-Siris syndrome
Cohen syndrome
Cold-induced sweating syndrome
Congenital aural atresia (CAA)
Congenital cataracts with facial dysmorphism and neuropathy
Congenital contractures of the limbs and face (CLIFAHDD)
Congenital disorder of glycosylation
Cornelia de Lange syndrome
Costello syndrome
Craniofacial anomalies (WES)

D

Donnai-Barrow syndrome
Dravet syndrome
Duane-radial ray syndrome

E

Epilepsy with neurodevelopmental defects (EPND)

F

Faciogenital dysplasia (Aarskog-Scott syndrome)
Familial hyperphosphatemic tumoral calcinosis
Fibrochondrogenesis
Floating-Harbor syndrome
Frank-Ter Haar syndrome

G

Galloway-Mowat syndrome
Geleophysic dysplasia
Genitopatellar syndrome
Geroderma osteodysplasticum
GM1-gangliosidosis
Guttmacher syndrome

H

Hartsfield syndrome
Hereditary congenital facial paresis
Hidrotic Ectodermal Dysplasia (Clouston)
Holoprosencephaly
Hydrolethalus syndrome
Hydrolethalus syndrome
Hypertrophic osteoarthropathy, primary

I

IVIC syndrome

J

Joubert syndrome

K

Kabuki syndrome
KBG syndrome
Kleefstra syndrome (Chr 9q deletion)
Koolen-De Vries syndrome

L

Legius syndrome
LEOPARD syndrome
Limb-Mammary syndrome
Loeys-Dietz syndrome
Lowe oculocerebrorenal syndrome
Lujan-Fryns syndrome

M

macrocephaly / megalencephaly syndrome
MACS (Macrocefalic alopecia cutis laxa scoliosis)
Mandibulofacial dysostosis
Marinesco-Sjögren syndrome
Marshall-Smith syndrome
Marshall syndrome
McKusick-Kaufman syndrome
Meckel syndrome
Menkes disease
Intellectual disability, autosomal dominant
Intellectual disability, autosomal recessive
Intellectual disability, syndromal
Intellectual disability, X-linked
Microphtalmia, syndromic
Microphthalmia, isolated
Microtia, hearing impairment, and cleft palate
Mowat-Wilson syndrome
Multiple pterygium syndrome
Muscle-Eye-Brain disease
Myasthenic syndrome

N

Nance-Horan Syndrome
Nijmegen breakage syndrome (NBS)
Noonan syndrome
Norrie disease

O

Oculo-digito-esophageal-duodenal syndrome (Feingold)
Ohdo syndrome
Opitz G/BBB syndrome
Opitz-Kaveggia syndrome
Orofacial cleft
Orofaciodigital syndrome
Osteopathia striata with cranial sclerosis
Otospondylomegaepiphyseal dysplasia

P

Paget disease of bone 3
Pelger-Huet anomaly
Perlman syndrome
Peters-plus syndrome
Pitt-Hopkins syndrome (PTHS)
Polysyndactyly
Pontocerebellar hypoplasia
Prader-Willi syndrome
Primary failure of tooth eruption
PTEN Hamartoma Tumor syndrome

R

Rapp-Hodgkin syndrome
Rett syndrome
Roberts syndrome
Robinow syndrome
Rothmund-Thomson syndrome

S

Schaaf-Yang syndrome
Schinzel-Giedion syndrome
Sensenbrenner syndrome
SeSAME syndrome
Short rib polydactyly syndrome
Short-rib thoracic dysplasia
SHORT syndrome
Simpson-Golabi-Behmel syndrome
Sjogren-Larsson syndrome
Smith-Magenis syndrome
Smith-McCort dysplasia
SNP array
Split hand/foot malformation (SFHM)
Spondylocostal dysostosis
Spondyloepimetaphysal dysplasia
Spondyloepimetaphysal dysplasia
Spondyloepiphyseal dysplasia
Stickler syndrome
Stuve-Wiedemann syndrome / Schwartz-Jampel type 2 syndrome

T

Thrombocytopenia-Absent Radius (TAR) syndrome
Townes-Brocks syndrome
TP63 related disorders
Treacher Collins-Franceschetti syndrome
Trismus pseudocamptodactyly syndrome

U

Ulnar-mammary syndrome

V

van der Woude syndrome 2
Vici syndrome

W

Walker-Warburg (-like) syndrome
Weaver syndrome
Weill-Marchesani syndrome
Werner syndrome
Wiedemann-Steiner syndrome
WES Mendelian inherited disorders

Array diagnostics: