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Diagnosis of ciliopathy (Panel)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 07/02/2020
  • Service d'Histologie - Embryologie - Cytogénétique
  • Hôpital Necker-Enfants Malades
  • 149 rue de Sèvres
  • 75743 PARIS
  • FRANCE
  • Director of laboratory : Pr Serge ROMANA
  • More information
  • Phone : 33 (0)1 44 49 49 83
  • Additional Phone : -
  • Fax : 33 (0)1 44 49 04 17
  • Website
Last update: February 2020

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Mutation scanning/screening and sequence analysis of selected exons
NGS sequencing (except WES)

List of diseases and genes (Panel description)

List of diseases tested (46)
Acrocallosal syndrome
Alström syndrome
Autosomal dominant polycystic kidney disease
Bardet-Biedl syndrome
Brachydactyly-syndactyly, Zhao type
Carpenter syndrome
Cone rod dystrophy
Cranioectodermal dysplasia
Ear-patella-short stature syndrome
Ellis Van Creveld syndrome
Greig cephalopolysyndactyly syndrome
Hydrolethalus
Infantile nephronophthisis
Jeune syndrome
Joubert syndrome
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Joubert syndrome with hepatic defect
Joubert syndrome with ocular defect
Joubert syndrome with oculorenal defect
Joubert syndrome with renal defect
Juvenile nephronophthisis
Late-onset nephronophthisis
Laurin-Sandrow syndrome
Leber congenital amaurosis
Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
McKusick-Kaufman syndrome
Meckel syndrome
Oral-facial-digital syndrome with short stature and brachymesophalangy
Orofaciodigital syndrome type 1
Orofaciodigital syndrome type 14
Orofaciodigital syndrome type 4
Orofaciodigital syndrome type 5
Orofaciodigital syndrome type 6
Pallister-Hall syndrome
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Primary ciliary dyskinesia
Renal-hepatic-pancreatic dysplasia
Retinitis pigmentosa
Saldino-Mainzer syndrome
Senior-Boichis syndrome
Senior-Loken syndrome
Short rib-polydactyly syndrome, Majewski type
Short rib-polydactyly syndrome, Verma-Naumoff type
Smith-Lemli-Opitz syndrome
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
Townes-Brocks syndrome
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.