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Diagnosis of idiopathic intellectual disability, autism, growth delay, and / or multiple congenital anomalies (qChip« Post)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 08/11/2018
  • Servicio de Laboratorio
  • Servicio de Medicina Genética y Molecular
  • Hospital Sant Joan de Déu Barcelona
  • Paseo de Sant Joan de Déu, 2
  • 08950 ESPLUGUES DE LLOBREGAT
  • SPAIN
  • Director of laboratory : Dr Bonaventura RUIZ MONTASELL
  • More information
  • Phone : 34 93 253 21 00
  • Additional Phone : -
  • Fax : -
  • Website
Last update: November 2018

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Deletion / Duplication analysis
Array based techniques

List of diseases and genes

List of diseases tested (201)
10q22.3q23.3 microdeletion syndrome
12q14 microdeletion syndrome
15q24 microdeletion syndrome
16p11.2p12.2 microdeletion syndrome
16p13.11 microdeletion syndrome
17q21.31 microdeletion syndrome
1p36 deletion syndrome
1q21.1 microdeletion syndrome
1q41q42 microdeletion syndrome
22q11.2 deletion syndrome
2p15p16.1 microdeletion syndrome
2q37 microdeletion syndrome
3q29 microdeletion syndrome
46,XX testicular disorder of sex development
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
8p23.1 microdeletion syndrome
8q22.1 microdeletion syndrome
APC-related attenuated familial adenomatous polyposis
Acro-renal-ocular syndrome
Adult-onset autosomal dominant leukodystrophy
Alagille syndrome
Alagille syndrome due to 20p12 microdeletion
Alagille syndrome due to a JAG1 point mutation
Alobar holoprosencephaly
Alpha-thalassemia
Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
Alport syndrome
Angelman syndrome
Anophthalmia/microphthalmia-esophageal atresia syndrome
Atrial septal defect-atrioventricular conduction defects syndrome
Attenuated familial adenomatous polyposis
Axenfeld-Rieger syndrome
BOR syndrome
Bannayan-Riley-Ruvalcaba syndrome
Bardet-Biedl syndrome
Bartter syndrome
Bartter syndrome type 1
Bartter syndrome type 2
Bartter syndrome type 4
Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome due to CDKN1C mutation
Beckwith-Wiedemann syndrome due to NSD1 mutation
Bilateral frontoparietal polymicrogyria
Bilateral polymicrogyria
Blepharophimosis-ptosis-epicanthus inversus syndrome
Buschke-Ollendorff syndrome
CHARGE syndrome
Campomelic dysplasia
Cardiofaciocutaneous syndrome
Cat-eye syndrome
Charcot-Marie-Tooth disease type 1B
Cleft palate
Cleidocranial dysplasia
Congenital diaphragmatic hernia
Cornelia de Lange syndrome
Costello syndrome
Cowden syndrome
Currarino syndrome
Distal 22q11.2 microdeletion syndrome
Distal Xq28 microduplication syndrome
Distal monosomy 10p
Dravet syndrome
Early-onset autosomal dominant Alzheimer disease
Familial adenomatous polyposis
Familial atrial fibrillation
Familial hypocalciuric hypercalcemia
Familial hypocalciuric hypercalcemia type 1
Familial isolated hypoparathyroidism
Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
Familial isolated hypoparathyroidism due to impaired PTH secretion
Familial thoracic aortic aneurysm and aortic dissection
Feingold syndrome
Feingold syndrome type 1
Fragile X syndrome
Fryns syndrome
Gardner syndrome
Generalized epilepsy with febrile seizures-plus
Generalized juvenile polyposis/juvenile polyposis coli
Gitelman syndrome
Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
Gorlin syndrome
Greig cephalopolysyndactyly syndrome
HNF1B-related autosomal dominant tubulointerstitial kidney disease
Hereditary neuropathy with liability to pressure palsies
Heterotaxia
Holoprosencephaly
Holt-Oram syndrome
Hypoparathyroidism-sensorineural deafness-renal disease syndrome
Isolated Dandy-Walker malformation
Isolated aniridia
Isolated ectopia lentis
Isolated growth hormone deficiency type III
Isolated osteopoikilosis
Isolated split hand-split foot malformation
Jacobsen syndrome
Joubert syndrome with ocular defect
Joubert syndrome with oculorenal defect
Joubert syndrome with renal defect
Juvenile nephronophthisis
Juvenile polyposis of infancy
Juvenile polyposis syndrome
Kallmann syndrome
Kleefstra syndrome
Kleefstra syndrome due to 9q34 microdeletion
Kleefstra syndrome due to a point mutation
Kniest dysplasia
Koolen-De Vries syndrome
Langer mesomelic dysplasia
Leber congenital amaurosis
Lhermitte-Duclos disease
Li-Fraumeni syndrome
Lissencephaly due to LIS1 mutation
Lissencephaly syndrome, Norman-Roberts type
Lissencephaly type 1 due to doublecortin gene mutation
Lobar holoprosencephaly
Loeys-Dietz syndrome
Léri-Weill dyschondrosteosis
Macrocephaly-intellectual disability-autism syndrome
Marfan syndrome
Marfan syndrome type 1
Meckel syndrome
Microform holoprosencephaly
Microphthalmia with linear skin defects syndrome
Midline interhemispheric variant of holoprosencephaly
Miller-Dieker syndrome
Mohr-Tranebjaerg syndrome
Monosomy 22q13.3
Monosomy 5p
Monosomy 9q22.3
Mowat-Wilson syndrome
Nail-patella syndrome
Neonatal severe primary hyperparathyroidism
Nephroblastoma
Nephronophthisis
Neurofibromatosis type 1
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
Neurofibromatosis type 2
Non-acquired isolated growth hormone deficiency
Noonan syndrome
Normosmic congenital hypogonadotropic hypogonadism
Norrie disease
Null syndrome
Oculocerebrorenal syndrome of Lowe
Oculocutaneous albinism type 2
Okihiro syndrome
Ornithine transcarbamylase deficiency
Orofaciodigital syndrome type 1
Otofaciocervical syndrome
Pelizaeus-Merzbacher disease
Pelizaeus-Merzbacher disease, connatal form
Potocki-Shaffer syndrome
Prader-Willi syndrome
Proteus syndrome
Proteus-like syndrome
Recessive X-linked ichthyosis
Retinoblastoma
Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
SHOX-related short stature
Saethre-Chotzen syndrome
Schizencephaly
Semilobar holoprosencephaly
Senior-Loken syndrome
Septopreoptic holoprosencephaly
Shprintzen-Goldberg syndrome
Smith-Lemli-Opitz syndrome
Smith-Magenis syndrome
Sotos syndrome
Stickler syndrome
Stickler syndrome type 1
Subcortical band heterotopia
Symptomatic form of fragile X syndrome in female carriers
Syndactyly type 2
Syndromic recessive X-linked ichthyosis
Synpolydactyly type 1
Tetrasomy 12p
Thrombocytopenia-absent radius syndrome
Townes-Brocks syndrome
Trichorhinophalangeal syndrome type 1 and 3
Trichorhinophalangeal syndrome type 2
Tuberous sclerosis complex
Turcot syndrome with polyposis
Ulnar-mammary syndrome
Van der Woude syndrome
WAGR syndrome
Waardenburg syndrome
Waardenburg syndrome type 2
Waardenburg syndrome type 3
Weill-Marchesani syndrome
Williams syndrome
Wolf-Hirschhorn syndrome
X-linked Alport syndrome
X-linked adrenal hypoplasia congenita
X-linked intellectual disability with isolated growth hormone deficiency
X-linked intellectual disability-retinitis pigmentosa syndrome
X-linked lissencephaly with abnormal genitalia
X-linked lymphoproliferative disease
X-linked non-syndromic intellectual disability
X-linked retinoschisis

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.