Quest Diagnostics Nichols Institute San Juan Capistrano

Personnel

Director: Reha Toydemir, PhD, MD, FACMG, Lab Director
Biochemical Genetic Department, ,
Phone: 949-728-4423 or 949-728-4817
Cytogenetic Department,
Phone: 949-728-4307

Contact note: 1-866-GENEINFO

Conditions and tests

229 conditions/phenotypes with 171 tests
Enter text to narrow down the list

11q partial monosomy syndrome1 test
2-aminoadipic 2-oxoadipic aciduria2 tests
2-hydroxyglutaric aciduria1 test
3-Hydroxyisobutyric aciduria1 test
3-methylcrotonyl-CoA carboxylase 1 deficiency2 tests
3-methylglutaconic aciduria type 12 tests
46,XX testicular disorder of sex development1 test
4p partial monosomy syndrome2 tests
5-Oxoprolinase deficiency1 test
5p partial monosomy syndrome2 tests
Achondroplasia1 test
Acute intermittent porphyria3 tests
Adrenoleukodystrophy1 test
Advanced maternal age gravida8 tests
Alkaptonuria1 test
alpha Thalassemia5 tests
Alpha-1-antitrypsin deficiency1 test
Alpha-methylacyl-CoA racemase deficiency1 test
Angelman syndrome3 tests
Arginase deficiency1 test
Argininosuccinate lyase deficiency2 tests
Atrial fibrillation1 test
Autism spectrum disorder5 tests
Azathioprine response1 test
BAP1-related tumor predisposition syndrome2 tests
beta Thalassemia2 tests
Beta-hydroxyisobutyryl-CoA deacylase deficiency1 test
Biotinidase deficiency4 tests
Bloom syndrome1 test
Breast and colorectal cancer, susceptibility to2 tests
Breast cancer, susceptibility to5 tests
Breast neoplasm1 test
Breast-ovarian cancer, familial, susceptibility to, 32 tests
Breast-ovarian cancer, familial, susceptibility to, 42 tests
Bronchiectasis1 test
Carnitine acylcarnitine translocase deficiency1 test
Carnitine palmitoyl transferase 1A deficiency2 tests
Carnitine palmitoyltransferase II deficiency1 test
Cholesteryl ester storage disease1 test
Chromosome 1p36 deletion syndrome1 test
Citrullinemia3 tests
Citrullinemia type II2 tests
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2 tests
Classical phenylketonuria1 test
Cobalamin deficiency2 tests
Cognitive impairment5 tests
Colorectal cancer, susceptibility to, 103 tests
Complete trisomy 13 syndrome1 test
Complete trisomy 181 test
Complete trisomy 21 syndrome1 test
Congenital chromosomal disease2 tests
Congenital hyperammonemia, type I1 test
Congenital plasminogen activator inhibitor type 1 deficiency1 test
Coronary artery disease, susceptibility to2 tests
Coronary artery disorder1 test
Cowden syndrome1 test
Cowden syndrome 14 tests
Cutaneous porphyria2 tests
CYP2C19-related poor drug metabolism2 tests
Cystic fibrosis9 tests
Cystinuria1 test
Deficiency of 2-methylbutyryl-CoA dehydrogenase2 tests
Deficiency of 3-hydroxyacyl-CoA dehydrogenase1 test
Deficiency of acetyl-CoA acetyltransferase2 tests
Deficiency of butyryl-CoA dehydrogenase2 tests
Deficiency of hydroxymethylglutaryl-CoA lyase2 tests
Deficiency of isobutyryl-CoA dehydrogenase2 tests
Deficiency of malonyl-CoA decarboxylase2 tests
Deficiency of phosphoserine phosphatase1 test
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
DICER1 syndrome1 test
DiGeorge syndrome2 tests
Dihydropyrimidine dehydrogenase deficiency1 test
Disorder due cytochrome p450 CYP2C9 variant1 test
Disorder due cytochrome p450 CYP2D6 variant1 test
Disorder of cardiovascular system1 test
Disorder of organic acid metabolism1 test
Disorder of the urea cycle metabolism1 test
Double Y syndrome1 test
Dysmorphic features5 tests
EGFR-related lung cancer1 test
Ethylmalonic encephalopathy2 tests
Familial adenomatous polyposis 11 test
Familial adenomatous polyposis 24 tests
Familial aplasia of the vermis1 test
Familial cancer of breast3 tests
Familial colorectal cancer3 tests
Familial cutaneous melanoma1 test
Familial dysautonomia1 test
Familial hypercholesterolemia2 tests
Familial hyperinsulinism1 test
Familial Mediterranean fever2 tests
Familial melanoma3 tests
Familial multiple polyposis syndrome3 tests
Familial prostate carcinoma3 tests
Fanconi anemia complementation group C1 test
Fragile X syndrome1 test
Fragile X-associated tremor/ataxia syndrome1 test
Fumarase deficiency1 test
Gaucher disease1 test
Gilbert syndrome1 test
Global developmental delay5 tests
Glutaric aciduria, type 12 tests
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1 test
Gorlin syndrome2 tests
Hawkinsinuria1 test
Hb SS disease2 tests
Hepatitis C virus infection, response to therapy of1 test
Hereditary breast ovarian cancer syndrome5 tests
Hereditary cancer-predisposing syndrome1 test
Hereditary coproporphyria3 tests
Hereditary diffuse gastric adenocarcinoma5 tests
Hereditary disease4 tests
Hereditary factor VIII deficiency disease1 test
Hereditary factor XI deficiency disease1 test
Hereditary hemochromatosis1 test
Hereditary nonpolyposis colon cancer5 tests
Hereditary pancreatitis1 test
Hereditary pheochromocytoma-paraganglioma2 tests
Hereditary thrombophilia1 test
Histidine transport defect2 tests
Holocarboxylase synthetase deficiency2 tests
Homocystinuria1 test
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
HSD10 mitochondrial disease2 tests
Huntington disease1 test
Hydrops fetalis, alpha-thalassemia-related1 test
Hypercoagulability2 tests
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1 test
Hypogonadotropic hypogonadism 1 with or without anosmia1 test
Iminoglycinuria1 test
Infertility4 tests
Inherited renal cancer-predisposing syndrome1 test
Isovaleryl-CoA dehydrogenase deficiency2 tests
Joubert syndrome 21 test
Juvenile polyposis syndrome4 tests
Klinefelter syndrome6 tests
Known OR suspected fetal abnormality affecting management of mother9 tests
Langer-Giedion syndrome1 test
Li-Fraumeni syndrome5 tests
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency2 tests
Lynch syndrome4 tests
Lysinuric protein intolerance1 test
Lysosomal acid lipase deficiency1 test
Maple syrup urine disease3 tests
Maternal care for suspected chromosomal abnormality in fetus9 tests
Medium-chain acyl-coenzyme A dehydrogenase deficiency4 tests
Melanoma, cutaneous malignant, susceptibility to, 22 tests
Mercaptopurine response1 test
Methylmalonate semialdehyde dehydrogenase deficiency1 test
Methylmalonic acidemia4 tests
Mevalonic aciduria1 test
Microcephaly, normal intelligence and immunodeficiency1 test
Miller Dieker syndrome1 test
Miscarriage4 tests
Mitochondrial disease4 tests
Mosaic sex chromosome aneuploidy2 tests
Mucolipidosis type IV1 test
Multiple acyl-CoA dehydrogenase deficiency2 tests
Multiple congenital anomalies9 tests
Multiple cutaneous leiomyomas3 tests
Multiple endocrine neoplasia type 41 test
Multiple endocrine neoplasia, type 13 tests
Multiple endocrine neoplasia, type 23 tests
Multiple fibrofolliculomas2 tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 41 test
Myocardial infarction2 tests
Neurofibromatosis, type 15 tests
Neutral 1 amino acid transport defect1 test
Niemann-Pick disease, type A1 test
Niemann-Pick disease, type B1 test
Non-ketotic hyperglycinemia2 tests
Ornithine aminotransferase deficiency1 test
Ornithine carbamoyltransferase deficiency2 tests
Oxoglutaricaciduria1 test
Pancreatic cancer, susceptibility to, 33 tests
Peroxisome biogenesis disorder1 test
Peutz-Jeghers syndrome5 tests
Phenylketonuria2 tests
PHGDH deficiency1 test
Phytanic acid storage disease1 test
Porphobilinogen synthase deficiency2 tests
Porphyria cutanea tarda2 tests
Prader-Willi syndrome3 tests
Pregnancy loss, recurrent, susceptibility to, 16 tests
Primary hyperoxaluria, type I1 test
Primary hyperoxaluria, type II1 test
Propionic acidemia2 tests
Pure gonadal dysgenesis 46,XY1 test
Pyruvate dehydrogenase complex deficiency1 test
Pyruvate dehydrogenase E3 deficiency1 test
Renal carnitine transport defect2 tests
Renal cell carcinoma1 test
Rett syndrome2 tests
Rhabdoid tumor predisposition syndrome 22 tests
Ribavirin response1 test
Sarcosine dehydrogenase deficiency1 test
Sickle cell-hemoglobin C disease2 tests
Smith-Magenis syndrome1 test
Solid tumor2 tests
Spermatogenic failure, Y-linked, 21 test
Spinal muscular atrophy3 tests
Spongy degeneration of central nervous system1 test
Statins, attenuated cholesterol lowering by1 test
Succinate-semialdehyde dehydrogenase deficiency1 test
Tay-Sachs disease2 tests
Thioguanine response1 test
Thiopurine methyltransferase deficiency1 test
Thiopurine response1 test
Thrombophilia due to activated protein C resistance1 test
Thyroid hormone resistance, generalized, autosomal dominant1 test
Trisomy X syndrome1 test
Tuberous sclerosis 11 test
Tuberous sclerosis 21 test
Tuberous sclerosis syndrome2 tests
Turner syndrome6 tests
Tyrosinemia type I2 tests
Tyrosinemia type II2 tests
Usher syndrome type 1F1 test
Usher syndrome type 31 test
Variegate porphyria3 tests
Velocardiofacial syndrome1 test
Very long chain acyl-CoA dehydrogenase deficiency1 test
Von Hippel-Lindau syndrome3 tests
von Willebrand disorder1 test
Warfarin response1 test
Williams syndrome1 test
Wolman disease1 test
X-linked ichthyosis with steryl-sulfatase deficiency1 test

List of services

This lab has no services.

List of certifications/licenses

Certifications

CLIAHelpCertification number assigned by the Clinical Laboratory Improvement Amendments (CLIA) program to the laboratory director. Minimal field for US labs offering clinical tests. Optional field for international labs or US labs performing research tests. If pending renewal or record has not been updated, the expiration date may be in the past., Number: 05D0643352, Expiration date: 2025-02-27
CAP, Number: ISO 15189, Expiration date: 2023-11-09
CAP, Number: 2285201, Expiration date: 2024-05-28
ISO, Number: 9001.2015, Expiration date: 2025-04-04

Licenses

CA - California Department of Public Health CDPH, Number: CDF 00002562, Expiration date: 2023-12-28
MD - Maryland Department of Health and Mental Hygiene DHMH, Number: 290, Effective date: 2021-10-02 Non-expiring
NC - North Carolina Department of Health and Human Services DHHS, Number: HIV00902, Expiration date: 2024-12-31
NY - New York State Department of Health NYSDOH, Number: PFI: 2478, Expiration date: 2024-06-30
PA - Pennsylvania Department of Health PADOH, Number: 022174A, Expiration date: 2023-08-15
RI - State of Rhode Island Department of Health RIDOH, Number: LCO00194, Expiration date: 2024-12-30

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.