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Diagnostic of rare genetic intellectual disability (gene panel)

Laboratoire de biologie moléculaire constitutionnelle - Génétique moléculaire humaine - CHU Liège
Service de Génétique Humaine
CHU de Liège - UniLab Lg
Avenue de l'hôpital, 1
4000 LIEGE
BELGIUM
Director of laboratory : Dr Vinciane DIDEBERG
More information

Phone : +32 (0)4 366 24 78
Additional Phone : -
Fax : +32 (0)4 366 21 88
Website

Last update: August 2020

Responsible of diagnostic test

Dr Jean-Hubert CABERG

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics

Sequence analysis: entire coding region

NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (359)

12p12.1 microdeletion syndrome

15q24 microdeletion syndrome

17p11.2 microduplication syndrome

17q21.31 microdeletion syndrome

17q24.2 microdeletion syndrome

19p13.3 microduplication syndrome

2q23.1 microdeletion syndrome

3-methylglutaconic aciduria type 7

3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form

3C syndrome

3MC syndrome

5p13 microduplication syndrome

5q14.3 microdeletion syndrome

8q24.3 microdeletion syndrome

9q33.3q34.11 microdeletion syndrome

ADNP syndrome

AICA-ribosiduria

ALDH18A1-related De Barsy syndrome

Aarskog-Scott syndrome

Acrocallosal syndrome

Adenylosuccinate lyase deficiency

Aicardi-Goutières syndrome

Alazami syndrome

Allan-Herndon-Dudley syndrome

Alobar holoprosencephaly

Alpha-dystroglycan-related limb-girdle muscular dystrophy R16

Alpha-thalassemia-X-linked intellectual disability syndrome

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome

Angelman syndrome due to a point mutation

Angelman syndrome due to imprinting defect in 15q11-q13

Angelman syndrome due to maternal 15q11q13 deletion

Angelman syndrome due to paternal uniparental disomy of chromosome 15

Aniridia-cerebellar ataxia-intellectual disability syndrome

Anterior maxillary protrusion-strabismus-intellectual disability syndrome

Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome

Atypical Rett syndrome

Autism spectrum disorder due to AUTS2 deficiency

Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

Autosomal dominant non-syndromic intellectual disability

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency

Autosomal recessive chorioretinopathy-microcephaly syndrome

Autosomal recessive cutis laxa type 2, classic type

Autosomal recessive non-syndromic intellectual disability

Autosomal recessive proximal renal tubular acidosis

Autosomal recessive spastic paraplegia type 9B

BRESEK syndrome

Bainbridge-Ropers syndrome

Bannayan-Riley-Ruvalcaba syndrome

Baraitser-Winter cerebrofrontofacial syndrome

Bilateral frontoparietal polymicrogyria

Bilateral generalized polymicrogyria

Bilateral perisylvian polymicrogyria

Blepharophimosis-intellectual disability syndrome, MKB type

Blepharophimosis-intellectual disability syndrome, SBBYS type

Bohring-Opitz syndrome

Borjeson-Forssman-Lehmann syndrome

Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome

C syndrome

CDKL5-deficiency disorder

Cardiofaciocutaneous syndrome

Cataract-intellectual disability-hypogonadism syndrome

Cerebrofacioarticular syndrome

Christianson syndrome

Cobblestone lissencephaly without muscular or ocular involvement

Cockayne syndrome type 1

Cockayne syndrome type 2

Cockayne syndrome type 3

Coffin-Lowry syndrome

Coffin-Siris syndrome

Cohen syndrome

Combined oxidative phosphorylation defect type 23

Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome

Congenital intrauterine infection-like syndrome

Congenital limbs-face contractures-hypotonia-developmental delay syndrome

Congenital muscular dystrophy with cerebellar involvement

Congenital muscular dystrophy with intellectual disability

Congenital muscular dystrophy, Fukuyama type

Cornelia de Lange syndrome

Corpus callosum agenesis-abnormal genitalia syndrome

Costello syndrome

Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome

Craniofrontonasal dysplasia

DOORS syndrome

DPAGT1-CDG

Developmental and speech delay due to SOX5 deficiency

Developmental delay-facial dysmorphism syndrome due to MED13L deficiency

Dubowitz syndrome

Dysequilibrium syndrome

Dyskeratosis congenita

Ear-patella-short stature syndrome

Early-onset epilepsy-intellectual disability-brain anomalies syndrome

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

Early-onset parkinsonism-intellectual disability syndrome

Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome

Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome

FG syndrome type 1

FOXG1 syndrome

FRAXE intellectual disability

Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion

Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation

Familial infantile bilateral striatal necrosis

Feingold syndrome type 1

Female restricted epilepsy with intellectual disability

Floating-Harbor syndrome

Focal dermal hypoplasia

Focal epilepsy-intellectual disability-cerebro-cerebellar malformation

Fragile X syndrome

Frontometaphyseal dysplasia

Fryns syndrome

GM3 synthase deficiency

Gabriele-de Vries syndrome

Galloway-Mowat syndrome

Genitopatellar syndrome

Glycogen storage disease due to LAMP-2 deficiency

Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

Goldberg-Shprintzen megacolon syndrome

Growth delay due to insulin-like growth factor type 1 deficiency

Growth delay-intellectual disability-hepatopathy syndrome

Guanidinoacetate methyltransferase deficiency

HSD10 disease, atypical type

HSD10 disease, infantile type

HSD10 disease, neonatal type

Hamel cerebro-palato-cardiac syndrome

Hartsfield syndrome

Hennekam syndrome

Hereditary cryohydrocytosis with reduced stomatin

Hoyeraal-Hreidarsson syndrome

Hydrocephalus with stenosis of the aqueduct of Sylvius

Hyperekplexia-epilepsy syndrome

Hyperphosphatasia-intellectual disability syndrome

Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

Hypomyelination-congenital cataract syndrome

Hypotonia-speech impairment-severe cognitive delay syndrome

Hypoxanthine guanine phosphoribosyltransferase partial deficiency

Infantile spasms syndrome

Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome

Intellectual disability syndrome due to a DYRK1A point mutation

Intellectual disability, Birk-Barel type

Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome

Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome

Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome

Intellectual disability-developmental delay-contractures syndrome

Intellectual disability-expressive aphasia-facial dysmorphism syndrome

Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency

Intellectual disability-hyperkinetic movement-truncal ataxia syndrome

Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome

Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome

Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome

Intellectual disability-severe speech delay-mild dysmorphism syndrome

Intellectual disability-strabismus syndrome

Isolated complex I deficiency

Jawad syndrome

Johanson-Blizzard syndrome

KBG syndrome

Kabuki syndrome

Koolen-De Vries syndrome due to a point mutation

Lenz-Majewski hyperostotic dwarfism

Lesch-Nyhan syndrome

Lethal ataxia with deafness and optic atrophy

Leukocyte adhesion deficiency type II

Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

Lissencephaly due to LIS1 mutation

Lissencephaly due to TUBA1A mutation

Lissencephaly syndrome, Norman-Roberts type

Lissencephaly type 1 due to doublecortin gene mutation

Lobar holoprosencephaly

Macrocephaly-developmental delay syndrome

Macrocephaly-intellectual disability-autism syndrome

Macrocephaly-intellectual disability-left ventricular non compaction syndrome

Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

Mandibulofacial dysostosis-microcephaly syndrome

Megalencephaly-severe kyphoscoliosis-overgrowth syndrome

Melnick-Needles syndrome

Menkes disease

Micro syndrome

Microcephalic cortical malformations-short stature due to RTTN deficiency

Microcephalic osteodysplastic primordial dwarfism type II

Microcephalic primordial dwarfism due to ZNF335 deficiency

Microcephalic primordial dwarfism, Dauber type

Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom

Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome

Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome

Microcephaly-thin corpus callosum-intellectual disability syndrome

Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome

Microlissencephaly

Microphthalmia, Lenz type

Midline interhemispheric variant of holoprosencephaly

Miller-Dieker syndrome

Mohr-Tranebjaerg syndrome

Monoamine oxidase A deficiency

Mowat-Wilson syndrome due to a ZEB2 point mutation

Mowat-Wilson syndrome due to monosomy 2q22

Mucopolysaccharidosis type 2, attenuated form

Mucopolysaccharidosis type 2, severe form

Multiple congenital anomalies-hypotonia-seizures syndrome

Multiple congenital anomalies-hypotonia-seizures syndrome type 2

Muscle-eye-brain disease

Muscle-eye-brain disease with bilateral multicystic leucodystrophy

Nance-Horan syndrome

Neu-Laxova syndrome

Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion

Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation

Nicolaides-Baraitser syndrome

Non-specific syndromic intellectual disability

Norrie disease

Null syndrome

Oculocerebrofacial syndrome, Kaufman type

Oculocerebrorenal syndrome of Lowe

Oculofaciocardiodental syndrome

Optic atrophy-intellectual disability syndrome

Ornithine transcarbamylase deficiency

Orofaciodigital syndrome type 1

Orofaciodigital syndrome type 14

Orofaciodigital syndrome type 3

Orofaciodigital syndrome type 4

Orofaciodigital syndrome type 6

Otopalatodigital syndrome type 1

Otopalatodigital syndrome type 2

PDE4D haploinsufficiency syndrome

PMM2-CDG

PMP22-RAI1 contiguous gene duplication syndrome

PYCR1-related De Barsy syndrome

Partington syndrome

Pelizaeus-Merzbacher disease in female carriers

Pelizaeus-Merzbacher disease, classic form

Pelizaeus-Merzbacher disease, connatal form

Pelizaeus-Merzbacher disease, transitional form

Periventricular nodular heterotopia

Peters plus syndrome

Pierpont syndrome

Pitt-Hopkins syndrome

Polymicrogyria due to TUBB2B mutation

Polymicrogyria with optic nerve hypoplasia

Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome

Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome

Progressive epilepsy-intellectual disability syndrome, Finnish type

Prolidase deficiency

Proximal Xq28 duplication syndrome

Pyruvate dehydrogenase E1-alpha deficiency

Pyruvate dehydrogenase E1-beta deficiency

Pyruvate dehydrogenase E3 deficiency

Pyruvate dehydrogenase E3-binding protein deficiency

RFT1-CDG

Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome

Rett syndrome

Rolandic epilepsy-speech dyspraxia syndrome

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

Rubinstein-Taybi syndrome due to CREBBP mutations

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

S-adenosylhomocysteine hydrolase deficiency

SATB2-associated syndrome due to a chromosomal rearrangement

SATB2-associated syndrome due to a pathogenic variant

Sanjad-Sakati syndrome

Seckel syndrome

Semilobar holoprosencephaly

Septopreoptic holoprosencephaly

Severe intellectual disability and progressive spastic paraplegia

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 intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome

Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion

Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract

Severe phosphoribosylpyrophosphate synthetase superactivity

Short stature-brachydactyly-obesity-global developmental delay syndrome

Shprintzen-Goldberg syndrome

Simpson-Golabi-Behmel syndrome

Smith-Lemli-Opitz syndrome

Smith-Magenis syndrome

Spastic paraplegia-severe developmental delay-epilepsy syndrome

Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

Symptomatic form of Coffin-Lowry syndrome in female carriers

Tatton-Brown-Rahman syndrome

Temple-Baraitser syndrome

Temtamy syndrome

Uveal coloboma-cleft lip and palate-intellectual disability

WAGR syndrome

Walker-Warburg syndrome

Weaver syndrome

White-Sutton syndrome

Wiedemann-Rautenstrauch syndrome

Wilson-Turner syndrome

Woodhouse-Sakati syndrome

Wrinkly skin syndrome

X-linked Charcot-Marie-Tooth disease type 5

X-linked centronuclear myopathy

X-linked cerebral adrenoleukodystrophy

X-linked complicated corpus callosum dysgenesis

X-linked complicated spastic paraplegia type 1

X-linked creatine transporter deficiency

X-linked epilepsy-learning disabilities-behavior disorders syndrome

X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability

X-linked intellectual disability due to GRIA3 mutations

X-linked intellectual disability, Cabezas type

X-linked intellectual disability, Cantagrel type

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

X-linked intellectual disability, Najm type

X-linked intellectual disability, Nascimento type

X-linked intellectual disability, Porteous type

X-linked intellectual disability, Siderius type

X-linked intellectual disability, Snyder type

X-linked intellectual disability, Stocco Dos Santos type

X-linked intellectual disability, Sutherland-Haan type

X-linked intellectual disability-cerebellar hypoplasia syndrome

X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome

X-linked intellectual disability-hypotonia-movement disorder syndrome

X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome

X-linked intellectual disability-psychosis-macroorchidism syndrome

X-linked intellectual disability-short stature-overweight syndrome

X-linked lissencephaly with abnormal genitalia

X-linked myotubular myopathy-abnormal genitalia syndrome

X-linked non-syndromic intellectual disability

X-linked spasticity-intellectual disability-epilepsy syndrome

XYLT1-CDG

Xeroderma pigmentosum-Cockayne syndrome complex

Zimmermann-Laband syndrome

List of genes tested (including panels) (857)

ADK

AGA

AMT

ARX

ATR

AUH

BLM

BTD

CA8

CBL

CBS

DCC

DCX

DLD

EBP

EZR

FTL

FTO

GAN

GNS

GSS

IDS

MTR

MVK

NBN

NDP

NGF

NHS

NIN

OGT

OTC

PAH

PNP

RAX

SHH

SKI

SMS

SON

SPR

SYP

WAC

XPA

XPC

YY1

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.