Orphanet: Diagnostic du dï¿½ï¿½ï¿½faut de fermeture du tube neural Panel

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Diagnosis of neural tube closure defect (Panel)

Laboratoire de Biochimie, Biologie Moléculaire, Nutrition et Métabolisme
CHU de Nancy - Hôpitaux de Brabois
Rue du Morvan
54511 VANDOEUVRE-LÈS-NANCY CEDEX
FRANCE
Director of laboratory : Pr Jean-Louis GUEANT
More information

Phone : 33 (0)3 83 15 44 84
Additional Phone : -
Fax : 33 (0)3 83 15 37 85
Website
Contact
email

Last update: May 2022

Responsible of diagnostic test

Pr Jean-Louis GUEANT

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics

Sequence analysis: entire coding region

Whole Exome Sequencing (WES)

List of diseases and genes

List of diseases tested (106)

17q11 microdeletion syndrome

17q11.2 microduplication syndrome

20p12.3 microdeletion syndrome

2q37 microdeletion syndrome

Acro-renal-ocular syndrome

Acrocallosal syndrome

Adult-onset autosomal dominant leukodystrophy

Alobar holoprosencephaly

Amish lethal microcephaly

Autosomal dominant Robinow syndrome

Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

Axenfeld-Rieger syndrome

Bardet-Biedl syndrome

Blepharophimosis-intellectual disability syndrome, MKB type

Brachydactyly type A2

Brachydactyly type B2

Carpenter syndrome

Caudal regression syndrome

Cervical spina bifida aperta

Cervical spina bifida cystica

Cervicothoracic spina bifida aperta

Cervicothoracic spina bifida cystica

Chondrodysplasia-disorder of sex development syndrome

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Cranioectodermal dysplasia

Craniofacial-deafness-hand syndrome

Craniometaphyseal dysplasia

Craniosynostosis, Boston type

Donnai-Barrow syndrome

Dyssegmental dysplasia, Silverman-Handmaker type

Enlarged parietal foramina

Focal dermal hypoplasia

Fraser syndrome

Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome

Ghosal hematodiaphyseal dysplasia

Gorlin syndrome

Greig cephalopolysyndactyly syndrome

Isolated anencephaly/exencephaly

Isolated focal cortical dysplasia type IIb

Isolated split hand-split foot malformation

Joubert syndrome

Joubert syndrome with hepatic defect

Joubert syndrome with ocular defect

Kabuki syndrome

Lethal congenital contracture syndrome type 3

Lobar holoprosencephaly

Lujan-Fryns syndrome

Lumbosacral spina bifida aperta

Lumbosacral spina bifida cystica

Meckel syndrome

Metachondromatosis

Microform holoprosencephaly

Midline interhemispheric variant of holoprosencephaly

Monosomy 9q22.3

Multiple congenital anomalies-hypotonia-seizures syndrome type 2

Multiple synostoses syndrome

Myelomeningocele

Neonatal glycine encephalopathy

Neurofibromatosis-Noonan syndrome

Non-syndromic bicoronal craniosynostosis

Non-syndromic metopic craniosynostosis

Non-syndromic sagittal craniosynostosis

Noonan syndrome

Noonan syndrome with multiple lentigines

Oculodentodigital dysplasia

Oculotrichoanal syndrome

Okihiro syndrome due to 20q13 microdeletion

Okihiro syndrome due to a point mutation

Osteoglosphonic dysplasia

Pallister-Hall syndrome

Parietal foramina with clavicular hypoplasia

Pfeiffer syndrome type 1

Postaxial polydactyly type A

Postaxial polydactyly type B

Proximal symphalangism

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

Rubinstein-Taybi syndrome due to CREBBP mutations

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome

Saethre-Chotzen syndrome

Saldino-Mainzer syndrome

Schwartz-Jampel syndrome

Semilobar holoprosencephaly

Septo-optic dysplasia spectrum

Septopreoptic holoprosencephaly

Split hand-split foot-deafness syndrome

Stapes ankylosis with broad thumbs and toes

Syndactyly type 3

Tarsal-carpal coalition syndrome

Thoracolumbosacral spina bifida aperta

Thoracolumbosacral spina bifida cystica

Tibial hemimelia

Total spina bifida aperta

Total spina bifida cystica

Townes-Brocks syndrome

Treacher-Collins syndrome

Upper thoracic spina bifida aperta

Upper thoracic spina bifida cystica

Waardenburg syndrome type 1

Waardenburg syndrome type 3

Williams syndrome

List of genes tested (including panels) (140)

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