Intellectual Disability

intellectual disabilityFor intellectual disability disorders we offer exome sequencing diagnostics, multiple gene diagnostics, single gene diagnostics and array diagnostics.

Below you can find all the intellectual disability 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 9th of march 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

Angelman syndrome

B

Bannayan-Riley-Ruvalcaba syndrome
Bardet-Biedl syndrome
Blepharophimosis-ptosis-intellectual disability syndrome

C

Cardio-Facio-Cutaneous syndrome (CFC)
CHARGE syndrome
CHILD syndrome
Ciliopathies (WES)
Cockayne syndrome
Coffin-Lowry syndrome
Coffin-Siris syndrome
Cohen syndrome
Congenital disorder of glycosylation
Cornelia de Lange syndrome
Costello syndrome
Cowden syndrome

D

Donnai-Barrow syndrome

E

Early infantile epileptic encephalopathy (EIEE)

F

Faciogenital dysplasia (Aarskog-Scott syndrome)
Floating-Harbor syndrome
Fragile X syndrome (FraX)
Frank-Ter Haar syndrome

G

Galloway-Mowat syndrome
Geleophysic dysplasia
Genitopatellar syndrome
Glutathione synthetase deficiency
GM1-gangliosidosis

H

Hyperfosfatasemia with intellectual disability
Hypochondroplasia

I

Intellectual disability (WES)
Intellectual disability, autosomal dominant
Intellectual disability, autosomal recessive
Intellectual disability, syndromal
Intellectual disability, X-linked

J

Joubert syndrome

K

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

L

Legius syndrome
LEOPARD syndrome
Lujan-Fryns syndrome

M

Mabry syndrome
MACS (Macrocefalic alopecia cutis laxa scoliosis)
Martsolf syndrome
Meckel syndrome
Microcephaly, chorioretinopathy, lymphedema, MR
Microcephaly-capillary malformation syndrome
Microphtalmia, syndromic
Mowat-Wilson syndrome
Myhre syndrome

N

Nijmegen breakage syndrome (NBS)
Noonan syndrome
Norrie disease

O

Oculo-digito-esophageal-duodenal syndrome (Feingold)
Ohdo syndrome
Opitz-Kaveggia syndrome
Orofaciodigital syndrome

P

Peters-plus syndrome
Prader-Willi syndrome

R

Rett syndrome
Rothmund-Thomson syndrome

S

Schaaf-Yang syndrome
Simpson-Golabi-Behmel syndrome
SNP array
Sotos syndrome

V

Vici syndrome

Array diagnostics: