Skip to main content
Sem resultados.
 
Linha de Apoio ao Cliente Unilabs
2ª a 6ª das 8h00 às 20h00
sábado das 8h30 às 13h00
Pediatria

Pediatrics

WES by CGC Genetics (whole exome sequencing, including CNV analysis)
Mental retardation, autosomal dominant 8 (sequence analysis of GRIN1 gene)
Chromosomal microarray (array CGH, Cytoscan 750K)
Complete mitochondrial DNA sequencing
Skeletal Dysplasia (WES based NGS panel of 531 genes, including CNV analysis, including CNV analysis)
Severe myoclonic epilepsy of infancy - Dravet syndrome | Generalized epilepsy with febrile seizures plus type 2 | Familial hemiplegic migraine type 3 (sequence analysis of SCN1A gene)
Congenital disorders of glycosylation (NGS panel for 39 genes)
Primary Immunodeficiency (WES based NGS panel of 332 genes, including CNV analysis)
Lysosomal and peroxisomal diseases (NGS panel of 108 genes)
Infantile epileptic encephalopathy 13 (EIEE13) (sequence analysis of SCN8A gene)
Autism (WES based NGS panel of 154 genes, including CNV analysis)
Arthrogryposis, distal type 2B (sequence analysis of MYH3 gene)
Congenital anomalies of the kidney and urinary tract (CAKUT) (WES based NGS panel of 66 genes, including CNV analysis)
Mitochondrial diseases (WES based NGS panel of 268 genes, including CNV analysis)
Inborn errors of metabolism (WES based NGS panel of 833 genes, including CNV analysis)
Infantile enterocolitis and inflammatory bowel disease monogenic (NGS panel WES based of 65 genes, including CNV analysis)
Idiopathic renal failure on young (WES based NGS panel of 171 genes, including CNV analysis)
Noonan syndrome and rasopathies (NGS panel of 19 genes)
x

Bem-vindo ao Unilabs.pt

Visitar unilabs.com

OU ESCOLHA UM PAÍS UNILABS DA LISTA