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Diagnosis of intellectual disability and autism [panel of genes]

Laboratorio di Genetica Medica
MAGI'S LAB srl
Via delle Maioliche 57/D
38068 ROVERETO (TN)
ITALY
Director of laboratory : -
More information

Phone : 39 0464 662771
Additional Phone : 39 0365 62061
Fax : 39 0464 425634
Website
Contact
email

Last update: March 2021

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics

Targeted mutation analysis

Sanger sequencing

Targeted mutation analysis

NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (154)

17p11.2 microduplication syndrome

2q23.1 microdeletion syndrome

5q14.3 microdeletion syndrome

9q33.3q34.11 microdeletion syndrome

ANK3-related intellectual disability-sleep disturbance syndrome

Allan-Herndon-Dudley syndrome

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

Anterior maxillary protrusion-strabismus-intellectual disability syndrome

Atypical Rett syndrome

Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

Autosomal dominant non-syndromic intellectual disability

Autosomal recessive non-syndromic intellectual disability

Bannayan-Riley-Ruvalcaba syndrome

Basel-Vanagaite-Smirin-Yosef syndrome

Bilateral generalized polymicrogyria

Blepharophimosis-intellectual disability syndrome, MKB type

Borjeson-Forssman-Lehmann syndrome

CDKL5-deficiency disorder

CLCN4-related X-linked intellectual disability syndrome

CTCF-related neurodevelopmental disorder

Christianson syndrome

Coffin-Lowry syndrome

Coffin-Siris syndrome

Cornelia de Lange syndrome

Corpus callosum agenesis-abnormal genitalia syndrome

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

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

Developmental delay-facial dysmorphism syndrome due to MED13L deficiency

Dubowitz syndrome

Dysequilibrium syndrome

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

Early-onset parkinsonism-intellectual disability 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

Fragile X syndrome

Guanidinoacetate methyltransferase deficiency

HSD10 disease, atypical type

HSD10 disease, infantile type

HSD10 disease, neonatal type

Hamel cerebro-palato-cardiac syndrome

Hydrocephalus with stenosis of the aqueduct of Sylvius

Hyperekplexia-epilepsy syndrome

Hypoxanthine guanine phosphoribosyltransferase partial deficiency

Infantile spasms syndrome

Intellectual disability syndrome due to a DYRK1A point mutation

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-macrocephaly-hypotonia-behavioral abnormalities syndrome

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome

Intellectual disability-severe speech delay-mild dysmorphism syndrome

KDM5C-related syndromic X-linked intellectual disability

Kleefstra syndrome due to 9q34 microdeletion

Kleefstra syndrome due to a point mutation

L-2-hydroxyglutaric aciduria

L-Arginine:glycine amidinotransferase deficiency

Lesch-Nyhan syndrome

Lethal ataxia with deafness and optic atrophy

Lissencephaly due to TUBA1A mutation

Lissencephaly syndrome, Norman-Roberts type

Lujan-Fryns syndrome

Macrocephaly-developmental delay syndrome

Macrocephaly-intellectual disability-autism syndrome

Microcephaly-thin corpus callosum-intellectual disability syndrome

Microduplication Xp11.22p11.23 syndrome

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

Microphthalmia, Lenz type

Monoamine oxidase A deficiency

Monosomy 22q13.3

Mowat-Wilson syndrome due to a ZEB2 point mutation

Mowat-Wilson syndrome due to monosomy 2q22

Nance-Horan syndrome

Nicolaides-Baraitser syndrome

Non-specific syndromic intellectual disability

Optic atrophy-intellectual disability syndrome

Orofaciodigital syndrome type 1

Orofaciodigital syndrome type 6

PMP22-RAI1 contiguous gene duplication syndrome

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

Partington syndrome

Periventricular nodular heterotopia

Pierpont syndrome

Pitt-Hopkins syndrome

Proximal Xq28 duplication 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

SATB2-associated syndrome due to a chromosomal rearrangement

SATB2-associated syndrome due to a pathogenic variant

SYNGAP1-related developmental and epileptic encephalopathy

Schinzel-Giedion syndrome

Semilobar 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 phosphoribosylpyrophosphate synthetase superactivity

Smith-Magenis syndrome

Symptomatic form of Coffin-Lowry syndrome in female carriers

Tatton-Brown-Rahman syndrome

Temtamy syndrome

Wiedemann-Steiner syndrome

X-linked Charcot-Marie-Tooth disease type 5

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, 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, Sutherland-Haan type

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

X-linked intellectual disability-cerebellar hypoplasia syndrome

X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia 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 lissencephaly with abnormal genitalia

X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome

X-linked non-syndromic intellectual disability

X-linked spasticity-intellectual disability-epilepsy syndrome

List of genes tested (including panels) (158)

Additional information

Description of the activity

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.