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GTR Home > Laboratories > Quest Diagnostics Nichols Institute San Juan Capistrano

Quest Diagnostics Nichols Institute San Juan Capistrano

GTR Lab ID: 500110, Last updated:2023-08-14

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

  • 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
  • Birt-Hogg-Dube syndrome2 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-related tumor predisposition1 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 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
  • Hemoglobin Bart hydrops syndrome1 test
  • 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 factor VIII deficiency disease1 test
  • Hereditary factor XI deficiency disease1 test
  • Hereditary hemochromatosis1 test
  • Hereditary leiomyomatosis and renal cell cancer3 tests
  • Hereditary nonpolyposis colon cancer5 tests
  • Hereditary pancreatitis1 test
  • Hereditary pheochromocytoma-paraganglioma2 tests
  • Hereditary thrombophilia1 test
  • Hereditary von Willebrand disease1 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
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1 test
  • Hypogonadotropic hypogonadism 1 with or without anosmia1 test
  • Iminoglycinuria1 test
  • Infertility disorder4 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
  • Mosaic sex chromosome aneuploidy2 tests
  • Mucolipidosis type IV1 test
  • Multiple acyl-CoA dehydrogenase deficiency2 tests
  • Multiple congenital anomalies9 tests
  • Multiple endocrine neoplasia type 41 test
  • Multiple endocrine neoplasia, type 13 tests
  • Multiple endocrine neoplasia, type 23 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
  • Susceptibility to familial cutaneous melanoma1 test
  • Tay-Sachs disease2 tests
  • Thioguanine response1 test
  • Thiopurine response1 test
  • Thiopurine S-methyltransferase deficiency1 test
  • Thrombophilia2 tests
  • 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
  • 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

  • CLIAHelp, 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.