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Diagnosis of neurodevelopmental disorders (gene panel)

Laboratoire de Génétique Moléculaire - ULB Hôpital Erasme
Service de Génétique - Centre de Génétique humaine de l'ULB
Cliniques Universitaires de Bruxelles - Hôpital Erasme
Route de Lennik, 808
1070 BRUSSELS
BELGIUM
Director of laboratory : Pr Guillaume SMITS
More information

Phone : +32 (0)2 555 41 45
Additional Phone : +32 (0)2 555 42 00
Fax : +32 (0)2 555 42 12
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email

Last update: August 2020

Responsible of diagnostic test

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 (414)

12p12.1 microdeletion syndrome

12q14 microdeletion syndrome

15q24 microdeletion syndrome

17p11.2 microduplication syndrome

17p13.3 microduplication syndrome

17q11.2 microduplication syndrome

17q21.31 microdeletion syndrome

19p13.3 microduplication syndrome

1p21.3 microdeletion syndrome

2q23.1 microdeletion syndrome

2q37 microdeletion syndrome

5p13 microduplication syndrome

5q14.3 microdeletion syndrome

8q24.3 microdeletion syndrome

9q33.3q34.11 microdeletion syndrome

AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome

AICA-ribosiduria

ALDH18A1-related De Barsy syndrome

ANK3-related intellectual disability-sleep disturbance syndrome

Aarskog-Scott syndrome

Acquired schizencephaly

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

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

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 dominant primary microcephaly

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

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 primary microcephaly

Autosomal recessive proximal renal tubular acidosis

Autosomal recessive spastic paraplegia type 11

Autosomal recessive spastic paraplegia type 55

Autosomal recessive spastic paraplegia type 9B

B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome

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-lung-thyroid syndrome

CDKL5-deficiency disorder

CEDNIK syndrome

CLCN4-related X-linked intellectual disability syndrome

CTCF-related neurodevelopmental disorder

Cardiofaciocutaneous syndrome

Cataract-intellectual disability-hypogonadism syndrome

Cerebrofaciothoracic dysplasia

Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder

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

Combined oxidative phosphorylation defect type 7

Congenital cataracts-facial dysmorphism-neuropathy syndrome

Congenital communicating hydrocephalus

Congenital hereditary facial paralysis-variable hearing loss syndrome

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

Congenital non-communicating hydrocephalus

Congenital sialidosis type 2

Cornelia de Lange syndrome

Corpus callosum agenesis-abnormal genitalia syndrome

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

Corpus callosum agenesis-neuronopathy syndrome

Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

Costello syndrome

Craniofrontonasal dysplasia

DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion

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 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

Endosteal sclerosis-cerebellar hypoplasia syndrome

FG syndrome type 1

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

Familial porencephaly

Familial scaphocephaly syndrome, McGillivray type

Familial schizencephaly

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

GM3 synthase deficiency

GMPPB-related limb-girdle muscular dystrophy R19

Gabriele-de Vries syndrome

Genitopatellar syndrome

Glycogen storage disease due to LAMP-2 deficiency

Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

Goldberg-Shprintzen megacolon syndrome

Guanidinoacetate methyltransferase deficiency

HSD10 disease, atypical type

HSD10 disease, infantile type

HSD10 disease, neonatal type

Hamel cerebro-palato-cardiac syndrome

Hartsfield syndrome

Hemimegalencephaly

Hennekam syndrome

Hereditary cryohydrocytosis with reduced stomatin

Hoyeraal-Hreidarsson syndrome

Hydranencephaly

Hydrocephalus with stenosis of the aqueduct of Sylvius

Hyperekplexia-epilepsy syndrome

Hyperphosphatasia-intellectual disability syndrome

Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome

Hypomyelination-congenital cataract syndrome

Hypotonia-speech impairment-severe cognitive delay syndrome

ISPD-related limb-girdle muscular dystrophy R20

Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

Infantile spasms syndrome

Intellectual disability syndrome due to a DYRK1A point mutation

Intellectual disability, Birk-Barel type

Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome

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-epilepsy-extrapyramidal 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-hypophosphatasia-ophthalmic-skeletal anomalies syndrome

Intellectual disability-severe speech delay-mild dysmorphism syndrome

Intellectual disability-strabismus syndrome

Isolated anencephaly

Isolated complex I deficiency

Isolated exencephaly

Isolated focal cortical dysplasia type IIa

Isolated focal cortical dysplasia type IIb

Isolated focal cortical dysplasia type Ia

Isolated megalencephaly

Johanson-Blizzard syndrome

Joubert syndrome

Joubert syndrome with hepatic defect

Joubert syndrome with ocular defect

Joubert syndrome with oculorenal defect

Joubert syndrome with renal defect

Juvenile sialidosis type 2

Kabuki syndrome

Kleefstra syndrome due to 9q34 microdeletion

Kleefstra syndrome due to a point mutation

Lateral meningocele syndrome

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

Lhermitte-Duclos disease

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

Lujan-Fryns syndrome

MEDNIK syndrome

Macrocephaly-developmental delay syndrome

Macrocephaly-intellectual disability-autism syndrome

Mandibulofacial dysostosis-microcephaly syndrome

Meckel syndrome

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

Megalencephaly-severe kyphoscoliosis-overgrowth syndrome

Melnick-Needles syndrome

Microcephalic osteodysplastic primordial dwarfism type II

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

Microcephaly-lymphedema-chorioretinopathy syndrome

Microcephaly-polymicrogyria-corpus callosum agenesis syndrome

Microcephaly-thin corpus callosum-intellectual disability syndrome

Microduplication Xp11.22p11.23 syndrome

Microform holoprosencephaly

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

Microlissencephaly

Microphthalmia with linear skin defects syndrome

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

Muscle-eye-brain disease

Muscle-eye-brain disease with bilateral multicystic leucodystrophy

NDE1-related microhydranencephaly

NPHP3-related Meckel-like syndrome

Nance-Horan syndrome

Nicolaides-Baraitser syndrome

Non-progressive cerebellar ataxia with intellectual disability

Non-specific syndromic intellectual disability

Occipital pachygyria and polymicrogyria

Oculocerebrofacial syndrome, Kaufman type

Oculocerebrorenal syndrome of Lowe

Oculofaciocardiodental syndrome

Open spinal dysraphism

Optic atrophy-intellectual disability syndrome

Ornithine transcarbamylase deficiency

Orofaciodigital syndrome type 1

Orofaciodigital syndrome type 3

Orofaciodigital syndrome type 6

Osteoporosis-pseudoglioma syndrome

Otopalatodigital syndrome type 1

Otopalatodigital syndrome type 2

PDE4D haploinsufficiency syndrome

PMP22-RAI1 contiguous gene duplication syndrome

POMT1-related limb-girdle muscular dystrophy R11

POMT2-related limb-girdle muscular dystrophy R14

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation

PYCR1-related De Barsy syndrome

Pancreatic agenesis-holoprosencephaly syndrome

Partington syndrome

Pelizaeus-Merzbacher disease in female carriers

Pelizaeus-Merzbacher disease, classic form

Pelizaeus-Merzbacher disease, transitional form

Periventricular nodular heterotopia

Peters plus syndrome

Pitt-Hopkins syndrome

Polymicrogyria with optic nerve hypoplasia

Pontocerebellar hypoplasia type 1

Pontocerebellar hypoplasia type 2

Pontocerebellar hypoplasia type 4

Pontocerebellar hypoplasia type 6

Pontocerebellar hypoplasia type 9

Porencephaly-microcephaly-bilateral congenital cataract syndrome

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

Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome

Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

Prolidase deficiency

Proximal Xq28 duplication syndrome

Pyruvate dehydrogenase E1-alpha deficiency

Pyruvate dehydrogenase E3 deficiency

Pyruvate dehydrogenase E3-binding protein deficiency

RERE-related neurodevelopmental syndrome

Recessive intellectual disability-motor dysfunction-multiple joint contractures 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

SIN3A-related intellectual disability syndrome due to a point mutation

STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome

SYNGAP1-related developmental and epileptic encephalopathy

Sanjad-Sakati syndrome

Schinzel-Giedion syndrome

Seckel syndrome

Semilobar holoprosencephaly

Septo-optic dysplasia spectrum

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 phosphoribosylpyrophosphate synthetase superactivity

Shprintzen-Goldberg syndrome

Simpson-Golabi-Behmel syndrome

Smith-Lemli-Opitz syndrome

Smith-Magenis syndrome

Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

Spinal dysraphism with a posterior meningocele

Subcortical band heterotopia

THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome

Tatton-Brown-Rahman syndrome

Temple-Baraitser syndrome

Temtamy syndrome

Toriello-Carey syndrome

Trichorhinophalangeal syndrome type 2

Tuberous sclerosis complex

Tubulinopathy-associated dysgyria

Uveal coloboma-cleft lip and palate-intellectual disability

VACTERL with hydrocephalus

Walker-Warburg syndrome

Weaver syndrome

White-Sutton syndrome

Wiedemann-Rautenstrauch syndrome

Williams syndrome

Wilson-Turner syndrome

Wolf-Hirschhorn syndrome

Woodhouse-Sakati syndrome

Wrinkly skin syndrome

X-linked Charcot-Marie-Tooth disease type 1

X-linked Charcot-Marie-Tooth disease type 4

X-linked Charcot-Marie-Tooth disease type 5

X-linked centronuclear myopathy

X-linked complicated corpus callosum dysgenesis

X-linked complicated spastic paraplegia type 1

X-linked creatine transporter deficiency

X-linked dominant chondrodysplasia, Chassaing-Lacombe type

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 with isolated growth hormone deficiency

X-linked intellectual disability, Cabezas type

X-linked intellectual disability, Cantagrel type

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

X-linked intellectual disability, Hedera 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-Dandy-Walker malformation-basal ganglia disease-seizures syndrome

X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome

X-linked intellectual disability-cerebellar hypoplasia syndrome

X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome

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

X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior 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 microcephaly-growth retardation-prognathism-cryptorchidism syndrome

X-linked myotubular myopathy-abnormal genitalia syndrome

X-linked progressive cerebellar ataxia

X-linked spasticity-intellectual disability-epilepsy syndrome

Xeroderma pigmentosum-Cockayne syndrome complex

Zimmermann-Laband syndrome

List of genes tested (including panels) (1131)

Additional information

Description of the activity

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