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Diagnosis of X-linked intellectual disability (NGS-Screening-Panel, 92 genes)

MVZ Dr. Eberhard und Partner - Bereich Laboratoriumsmedizin und Humangenetik
Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
Brauhausstraße 4
44137 DORTMUND
GERMANY
Director of laboratory : -
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Phone : 49 (0)231 95720
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Fax : 49 (0)231 553619
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Last update: November 2021

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics

Sequence analysis: entire coding region

NGS sequencing (except WES)

Deletion / Duplication analysis

NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (113)

Aarskog-Scott syndrome

Allan-Herndon-Dudley syndrome

Alpha-thalassemia-X-linked intellectual disability syndrome

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome

Atypical Rett syndrome

BRESEK syndrome

Bilateral perisylvian polymicrogyria

Blepharophimosis-intellectual disability syndrome, MKB type

Borjeson-Forssman-Lehmann syndrome

CDKL5-deficiency disorder

CK syndrome

Christianson syndrome

Coffin-Lowry syndrome

Cornelia de Lange syndrome

Corpus callosum agenesis-abnormal genitalia syndrome

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

Dravet syndrome

Dyskeratosis congenita

Early infantile epileptic encephalopathy

Early-onset parkinsonism-intellectual disability syndrome

FG syndrome type 1

FRAXE intellectual disability

Fanconi anemia

Female restricted epilepsy with intellectual disability

Focal dermal hypoplasia

Fragile X syndrome

Fried syndrome

Frontometaphyseal dysplasia

Glycogen storage disease due to LAMP-2 deficiency

Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

HSD10 disease, atypical type

HSD10 disease, infantile type

HSD10 disease, neonatal type

Hamel cerebro-palato-cardiac syndrome

Hoyeraal-Hreidarsson syndrome

Hydrocephalus with stenosis of the aqueduct of Sylvius

Hyperekplexia-epilepsy syndrome

Hypomyelination of early myelinating structures

Hypoxanthine guanine phosphoribosyltransferase partial deficiency

Infantile spasms syndrome

Isolated complex I deficiency

Leigh syndrome

Lesch-Nyhan syndrome

Lethal ataxia with deafness and optic atrophy

Lissencephaly type 1 due to doublecortin gene mutation

Lujan-Fryns syndrome

MASA syndrome

Menkes disease

Microphthalmia with linear skin defects syndrome

Microphthalmia, Lenz type

Mild phosphoribosylpyrophosphate synthetase superactivity

Mohr-Tranebjaerg syndrome

Monoamine oxidase A deficiency

Mucopolysaccharidosis type 2, attenuated form

Mucopolysaccharidosis type 2, severe form

Myoclonic-astatic epilepsy

Nance-Horan syndrome

Non-specific syndromic intellectual disability

Norrie disease

Null syndrome

Occipital horn syndrome

Oculocerebrorenal syndrome of Lowe

Oculofaciocardiodental syndrome

Opitz GBBB syndrome

Ornithine transcarbamylase deficiency

Orofaciodigital syndrome type 1

Orofaciodigital syndrome type 6

Otopalatodigital syndrome type 1

Otopalatodigital syndrome type 2

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

Pyruvate dehydrogenase E1-alpha deficiency

Rolandic epilepsy-speech dyspraxia syndrome

Semilobar holoprosencephaly

Severe phosphoribosylpyrophosphate synthetase superactivity

Simpson-Golabi-Behmel syndrome

Symptomatic form of Coffin-Lowry syndrome in female carriers

VACTERL with hydrocephalus

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 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-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-limb spasticity-retinal dystrophy-diabetes insipidus syndrome

X-linked lissencephaly with abnormal genitalia

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

X-linked myotubular myopathy-abnormal genitalia syndrome

X-linked non-syndromic intellectual disability

X-linked spasticity-intellectual disability-epilepsy syndrome

List of genes tested (including panels) (92)

ARX

DCX

IDS

NDP

NHS

OTC

SMS

SYP

Additional information

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.