Children's Hospital Colorado
Tests and Evaluations
Tests and Evaluations

Denver Genetic Laboratories

Denver Genetic Laboratories at Children's Hospital Colorado aims to provide Complete Genetic Solutions™ for genetic disorders, to contribute to a better tomorrow for patients, families and healthcare providers. We specialize in three different areas through our Molecular, Biochemical and Mitochondrial genetic laboratories. Our laboratories provide service to all demographics as long as they have a referral.

Denver Genetic Laboratories communicates directly with referring healthcare providers – physicians, genetic counselors, geneticists, hospitals, send-out labs, etc. – who send samples to us and receive our reports. We do not communicate results directly to patients. Denver Genetic Laboratories does not see patients or draw blood in our laboratories, but can assist with referral information for genetic counseling and other genetic services.

*Denver Genetic Laboratories does not provide paternity testing.

Molecular Genetics Lab

Our Molecular Genetics lab, established over 25 years ago, is internationally known as a provider of molecular genetic disorders for rare and ultra-rare genetic disorders in which we provide both Sanger and Next-Generation sequencing, as well as microarray testing. We can provide customized prenatal diagnosis and our experts have research interest in GA1, GA2/MADD and NKH.

With a combined experience of over 55 years, our molecular genetics laboratory has three directors certified by the American Board of Medical Genetics (ABMG). Elaine Spector, PhD, FACMG, our laboratory director, has been a member and Secretary of the American College of Medical Genetics (2004-2010) and has participated in the writing of the Standards and Guidelines for the genetic testing of the Fragile X syndrome, Factor V Leiden and Factor II, Ashkenazi Jewish carrier screening, Huntington Disease and Interpretation of Sequence variants.

Supporting documents include:

Biochemical Genetics Lab

Our Biochemical Genetics lab was established in 1968 as part of a federally funded program to improve diagnosis and treatment of children with inborn errors of metabolism in several western states. It provides clinical testing to diagnose and monitor the treatment of many disorders of amino acid, organic acid and fatty acid metabolism. Stephen Goodman, MD, director of the Biochemical Genetics Lab, has been in practice for more than 50 years and is well-known in the inborn error field. Dr. Goodman is noted as being the first person to describe the inherited disease glutaric acidemia type I, otherwise known as GAI.

Supporting documents include:

TMAu Testing Inquiries:
All TMAu testing is required to be ordered by an authorized physician. Please review the collection and handling instructions for TMA samples before sending in samples. If there are questions regarding testing for TMAu please have the authorized provider contact us at LabClientServices@childrenscolorado.org or 720-777-0500.

Mitochondrial Lab

Our Mitochondrial Lab joined the Biochemical Genetics Lab in 2009 and provides diagnostic testing for respiratory chain enzyme diseases. The Mitochondrial Lab performs spectrophotometric respiratory chain enzyme assays in all tissues and also tests for blue native PAGE analyses. Johan Van Hove, MD, PhD, director of the Mitochondrial Lab, has spent years in the mitochondrial field for both clinical and research studies. He is sought out for his experience with rare metabolic diseases. In 2013, Dr. Van Hove identified a new disease related to nonketotic hyperglycinaemia (NKH).

Supporting documents include:

Certificates and Licensures:

*We are not licensed in the state of NY – you MUST provide a waiver form with your requisition to receive testing through our laboratory.

*We are not licensed in the state of FL and cannot accept samples from this state.

See our Annual Provider Notification (.pdf).

See information about commonly ordered tests at Denver Genetic Laboratories.

Find contact information for Denver Genetic Laboratories.


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