Orphanet: Diagnostik der X chromosomalen Intelligenzminderung NGS Panel, 115 Gene

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Diagnosis of X-linked intellectual disability (NGS panel, 115 genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 20/12/2017

Medizinisch Genetisches Zentrum (MGZ)
Medizinisch Genetisches Zentrum München
Bayerstrasse 3-5
80335 MÜNCHEN
GERMANY
Director of laboratory : Pr Elke HOLINSKI-FEDER
More information

Phone : 49 (0)89 3090 8860
Additional Phone : -
Fax : 49 (0)89 3090 8866
Website
Contact
email

Last update: December 2017

Responsible of diagnostic test

Pr Elke HOLINSKI-FEDER

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 (107)

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

Borjeson-Forssman-Lehmann syndrome

CLCN4-related X-linked intellectual disability syndrome

Christianson syndrome

Coffin-Lowry syndrome

Corpus callosum agenesis-abnormal genitalia syndrome

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

Dyskeratosis congenita

Early-onset parkinsonism-intellectual disability syndrome

FG syndrome type 1

FRAXE intellectual disability

Female restricted epilepsy with intellectual disability

Focal dermal hypoplasia

Fragile X 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

Hypoxanthine guanine phosphoribosyltransferase partial deficiency

Incontinentia pigmenti

Isolated complex I deficiency

KDM5C-related syndromic X-linked intellectual disability

Lesch-Nyhan syndrome

Lethal ataxia with deafness and optic atrophy

Lissencephaly type 1 due to doublecortin gene mutation

Lujan-Fryns syndrome

Melnick-Needles syndrome

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

Multiple congenital anomalies-hypotonia-seizures syndrome type 2

Nance-Horan syndrome

Non-specific syndromic intellectual disability

Oculocerebrorenal syndrome of Lowe

Oculofaciocardiodental syndrome

Ornithine transcarbamylase deficiency

Orofaciodigital syndrome type 1

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

Proximal Xq28 duplication syndrome

Pyruvate dehydrogenase E1-alpha deficiency

Rolandic epilepsy-speech dyspraxia syndrome

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

Severe phosphoribosylpyrophosphate synthetase superactivity

Simpson-Golabi-Behmel syndrome

VACTERL with hydrocephalus

Wilson-Turner syndrome

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 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-cardiomegaly-congestive heart failure syndrome

X-linked intellectual disability-cerebellar hypoplasia 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 non-syndromic intellectual disability

X-linked spasticity-intellectual disability-epilepsy syndrome

List of genes tested (including panels) (114)

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.