Molecular Genetics and Cytogenetics, Clinical Laboratory Service

Personnel

Director: Marcela Lagos, MD, Lab Director
Phone: +56 223548515
Fax: +56 223548603
Email: mlagos@med.puc.cl
Abraham Urzua, Staff
Email: aurzua@ucchristus.cl
Ligia Valdivia, Staff
Phone: +56 223548515
Email: lvaldivi@med.puc.cl

Conditions and tests

86 conditions/phenotypes with 65 tests
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17q11.2 microduplication syndrome1 test
4p partial monosomy syndrome1 test
5p partial monosomy syndrome1 test
7q11.23 microduplication syndrome1 test
Abacavir hypersensitivity1 test
Abnormality of mitochondrial metabolism1 test
Achondroplasia1 test
Acute lymphoid leukemia2 tests
Alpha-1-antitrypsin deficiency1 test
Ambiguous genitalia1 test
Angelman syndrome2 tests
Ankylosing spondylitis1 test
Autism spectrum disorder1 test
Batten-Turner congenital myopathy1 test
Becker muscular dystrophy1 test
Blepharophimosis, ptosis, and epicanthus inversus syndrome1 test
Celiac disease1 test
Charcot-Marie-Tooth disease1 test
Chromosome 17q21.31 duplication syndrome1 test
Chromosome 1p36 deletion syndrome1 test
Chromosome 22q11.2 deletion syndrome, distal2 tests
Chromosome 22q11.2 microduplication syndrome1 test
Chromosome 2p16.1-p15 deletion syndrome1 test
Chromosome 2q23.1 deletion syndrome1 test
Chromosome 2q32-q33 deletion syndrome1 test
Chromosome 3q29 microdeletion syndrome1 test
Chromosome 3q29 microduplication syndrome1 test
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1 test
Congenital adrenal hyperplasia1 test
Congenital chromosomal disease4 tests
Costello syndrome1 test
Cystic fibrosis1 test
Developmental delay1 test
Distal monosomy 10p1 test
Duchenne muscular dystrophy1 test
Fabry disease1 test
Factor XII deficiency disease1 test
Familial idiopathic steroid-resistant nephrotic syndrome1 test
Fatty liver disease, nonalcoholic, susceptibility to, 21 test
Fragile X syndrome1 test
Gaucher disease1 test
Gilbert syndrome1 test
Glucocorticoid deficiency 11 test
Glucocorticoid-remediable aldosteronism1 test
Hemophilia1 test
Hereditary diffuse gastric adenocarcinoma1 test
Hereditary factor VIII deficiency disease1 test
Hereditary hemochromatosis1 test
Hereditary nonpolyposis colon cancer2 tests
Hypochondroplasia1 test
Intellectual disability1 test
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1 test
Langer-Giedion syndrome1 test
Leber optic atrophy1 test
LEOPARD syndrome 11 test
Leri-Weill dyschondrosteosis2 tests
Lissencephaly due to LIS1 mutation1 test
Male infertility1 test
Maturity-onset diabetes of the young type 21 test
Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
MERFF syndrome1 test
Miller Dieker syndrome1 test
Mitochondrial DNA-Associated Leigh Syndrome and NARP1 test
Mitochondrial non-syndromic sensorineural hearing loss1 test
Monosomy 9q22.31 test
Muenke syndrome1 test
Multiple endocrine neoplasia, type 11 test
Multiple endocrine neoplasia, type 21 test
Nonpersistence of intestinal lactase1 test
Noonan syndrome 12 tests
Obesity1 test
Phelan-McDermid syndrome1 test
Platelet-type bleeding disorder 111 test
Potocki-Lupski syndrome1 test
Prader-Willi syndrome2 tests
Rett syndrome2 tests
Rubinstein-Taybi syndrome1 test
Sensorineural hearing loss disorder1 test
SIN3A-related intellectual disability syndrome due to a point mutation1 test
Smith-Magenis syndrome1 test
Sotos syndrome1 test
Spinal muscular atrophy1 test
Steinert myotonic dystrophy syndrome1 test
Syndromic X-linked intellectual disability Lubs type1 test
Thanatophoric dysplasia type 11 test
Thanatophoric dysplasia, type 21 test

List of services

Clinical Testing/Confirmation of Mutations Identified Previously
Identity Testing

List of certifications/licenses

Certifications

Estándar de acreditación para Prestadores Institucionales de Ate, Number: 280, Expiration date: 2020-03-01
Nch-ISO 15189-2012, Number: 0102, Expiration date: 2013-12-31

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.