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Diagnosis of intellectual disability (Panel)

UF de Génétique Moléculaire
Département de Génétique
CHU Paris - Hôpital Robert Debré
48 boulevard Sérurier
75019 PARIS
FRANCE
Director of laboratory : Pr Hélène CAVE
More information

Phone : 33 (0)1 40 03 57 11
Additional Phone : -
Fax : 33 (0)1 40 03 22 77
Website
Contact
email

Last update: February 2019

Responsible of diagnostic test

Dr Séverine DRUNAT

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics

Mutation scanning/screening and sequence analysis of selected exons

NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (68)

Allan-Herndon-Dudley syndrome

Alpha-thalassemia-X-linked intellectual disability syndrome

Atypical Rett syndrome

Autosomal dominant non-syndromic intellectual disability

Autosomal recessive non-syndromic intellectual disability

Benign familial infantile epilepsy

Benign familial neonatal-infantile seizures

Beta-propeller protein-associated neurodegeneration

Carpenter-Waziri syndrome

Childhood absence epilepsy

Christianson syndrome

Chudley-Lowry-Hoar syndrome

Classic glucose transporter type 1 deficiency syndrome

Coffin-Siris syndrome

Continuous spikes and waves during sleep

Cornelia de Lange syndrome

Craniopharyngioma

Developmental delay-facial dysmorphism syndrome due to MED13L deficiency

Dravet syndrome

Early infantile epileptic encephalopathy

Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation

Familial exudative vitreoretinopathy

Generalized epilepsy with febrile seizures-plus

Hamel cerebro-palato-cardiac syndrome

Hereditary cryohydrocytosis with reduced stomatin

Holmes-Gang syndrome

Infantile convulsions and choreoathetosis

Intellectual disability syndrome due to a DYRK1A point mutation

Intellectual disability-expressive aphasia-facial dysmorphism syndrome

Intellectual disability-severe speech delay-mild dysmorphism syndrome

Intellectual disability-sparse hair-brachydactyly syndrome

Juberg-Marsidi syndrome

KBG syndrome

Kabuki syndrome

Landau-Kleffner syndrome

Microphthalmia, Lenz type

Monosomy 22q13.3

PMP22-RAI1 contiguous gene duplication syndrome

Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity

Paroxysmal exertion-induced dyskinesia

Pitt-Hopkins syndrome

Rett syndrome

Rolandic epilepsy

Rolandic epilepsy-speech dyspraxia syndrome

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Schinzel-Giedion syndrome

Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome

Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome

Severe intellectual disability-progressive spastic diplegia syndrome

Severe neonatal-onset encephalopathy with microcephaly

Smith-Fineman-Myers syndrome

Smith-Magenis syndrome

Syndromic X-linked intellectual disability due to JARID1C mutation

Trisomy Xq28

Undetermined early-onset epileptic encephalopathy

West syndrome

Wiedemann-Steiner syndrome

X-linked creatine transporter deficiency

X-linked intellectual disability due to GRIA3 mutations

X-linked intellectual disability with marfanoid habitus

X-linked intellectual disability, Cabezas type

X-linked intellectual disability, Golabi-Ito-Hall type

X-linked intellectual disability, Najm type

X-linked intellectual disability, Porteous type

X-linked intellectual disability, Sutherland-Haan type

X-linked intellectual disability-psychosis-macroorchidism syndrome

X-linked non-syndromic intellectual disability

List of genes tested (including panels) (104)

CIC

DMD

NHS

WAC

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.