Labs that perform Supplemental and/or Comprehensive Newborn Screening (for individuals, hospital systems and states/countries) and/or FOD Diagnostic Testing

Test tubes and syringe

Note: This is not a complete Lab and/or Clinic listing, so use a search engine to find more contacts. Please contact Labs or Clinics on either list for specific details of which FODs are tested and if consultation with physicians and/or on-site patient clinical evaluation is available for infants, children and adults seeking a diagnosis. You can also search for additional US and Canadian clinics. We are in the process of updating this List (2019) and will make the updates when a Lab representative informs us of the changes to their info. Many state health departments are now in charge of the state newborn screening tests, but often refer out to other labs/clinics for further diagnostic testing if the newborn screen is flagged.

Families ~ please be aware that the staff at these facilities are here to HELP us, but they cannot make a diagnosis over the phone ~ so PLEASE be patient and work through your physicians to get the correct testing needed for yourself or your child.

*** Please Note: The expanded Newborn Screen test (NBS terminology guide & codes) may detect or ‘red flag’ several FODs, as well as many other metabolic disorders ~ however, the enbs is not 100% definitive and it is DIFFERENT than the Diagnostic acylcarnitine profile test that is often used to specifically diagnose FODs (*see article below – other diagnostic tests are used as well to give a more complete picture, since the profile can also come back inconclusive or normal, especially if the blood was taken when the child/adult was well).

There is also the possiblity of false positives and false negatives with the newborn screen test. It is very important, especially after a false negative, if your child experiences symptoms such as lethargy, low muscle tone, low blood sugars, chronic illnesses, seizures etc, that you INSIST on pursuing Diagnostic testing, and not just another newborn screen test. Your Dr can inquire about what other tests might be suggested (ie., acylcarnitine profile, plasma carnitine levels, urine organic acids, DNA testing) and types of specimens needed (blood or urine, skin or muscle biopsy, amniocytes, postmortem tissues) to further assist in the diagnostic evaluation of FODs for children and adults.

Also note that the FOD Group does not endorse any of these Labs/their staff even though they are listed here – individuals and professionals are urged to investigate or inquire about the quality, the expertise of the staff, etc on your own.

Mayo Clinic Laboratories (Rochester, MN) – Mayo Clinic Biochemical Genetics Laboratory

  • Phone: (800) 533-1710 for NBS testing, Diagnostic testing, Consultation, Post-mortem testing 
  • Fax: (507) 284-1759

Mayo Lab Co-Directors:

Mayo Biochemical Genetics Lab
Mayo Clinic Newborn Screening Resources

Our laboratory has several newborn screening options (Supplemental plus full Newborn Screening Panels), as well as a comprehensive list of confirmatory testing.  Approximately 35 disorders of fatty acid, amino acid, and organic acid metabolism are included in the Supplemental Newborn Screen (SNS). Your physician, hospital, or hospital laboratory must arrange for testing, including requesting screening cards and submitting samples to Mayo. Mayo is unable to accept specimens directly from patients or families. Mayo works directly with health care providers and laboratories who may contact Mayo to arrange for testing for their patients by calling 1-800-533-1710.

Mayo Metabolism Clinic Appointments for patients who wish to be seen in consultation at Mayo Clinic:

  • Appointments: (507) 284-8198
  • Fax: (507) 284-1067

[Please note: Self-referrals are accepted at Mayo, however, we cannot make specific clinical recommendations prior to evaluating you or your child. It is very helpful to have your primary physician contact us and send a referral summary and relevant laboratory reports. With this information, we may be able to provide your physician with some guidance if necessary prior to your evaluation.] 

PerkinElmer Genetics, Inc (Bridgeville, PA)

PerkinElmer Genetics offers StepOne®, a screening service that determines a baby’s risk for more than 50 inherited disorders through an easily collected blood spot sample.

  • Phone: (412) 220-2300 or (866) 463-6436
  • Fax: (412) 220-0784
  • Website

2M Associates, Inc.

2M Associates, Inc. is associated with The University of Colorado Health Sciences Center, Denver (see above), and provides expanded newborn screening in the US, India, and the United Arab Emirates and a number of other countries. All samples are processed in US laboratories.

Newborn Screening Center (India)

NeoGen Labs utilizes Tandem Mass Spectrometry (MS/MS) and Biochemical Assays to offer the First Step Newborn Screening Test for babies in India. NeoGen Labs screens for over 45 metabolic disorders (including FOD). The laboratory is situated in Bangalore, India, and processes samples from hospitals, doctors and parents all over India, Middle East and South East Asia. Confirmatory testing is carried out with partner labs located in India and the US. The lab is currently contracted by the state of Goa, India, to provide the NBS  to all babies born in government healthcare facilities in the state. This is the second phase of the project beginning August 2018. The first phase screened 48,000 infants from 2008 to 2013.

Eastern Biotech and Life Sciences – Middle East

Labs/Clinics that perform FOD Diagnostic Testing, Research and/or Clinical Consultation

[Note: Each Lab has their own procedures for diagnostic testing and which specific FODs may be tested, researched,and/or clinically treated. Some Labs only perform diagnostics, but others may offer onsite clinical evaluation/treatment (and possibly emergency phone consultation) by physicians experienced with FODs. Please have your physician contact the specific Lab/Clinic to determine what services they can provide.]

Children’s Hospital of Pittsburgh (Pittsburgh, PA) – Medical Genetics – Metabolic Clinic and follow up for abnormal NBS

  • *Dr Vockley is continuing the c7 oil research for long chain disorders that was originally initiated by Dr Charles Roe (retired)
  • Jerry Vockley, MD, PhD, Division Chief
  • *Families please contact Elizabeth McCracken and not Dr Vockley
  • Phone: (412) 692-5662

Cincinnati Children’s Research Foundation (Cincinnati, OH) 

Cincinnati Children’s Hospital – Division of Human Genetics Diagnostic Laboratories

Cincinnati Children’s Hospital – Division of Human Genetics Metabolic Diseases Clinic

Medical College of Wisconsin – Fatty Acid Oxidation Disorder Lab (Milwaukee, WI) 

Vanderbilt University Medical Center – Division of Medical Genetics Clinic (Nashville, TN) -Treatment & Consultation for FODs 

Cleveland Clinic Foundation – Neurometabolism & Mitochondrial Disease (Cleveland, OH)

Clinical Treatment for FODs (testing is outsourced) 

Center for Inherited Disorders of Energy Metabolism – Case Western Reserve University (Cleveland, OH)

Duke University Medical Center – Biochemical Genetics Lab (Durham, NC)

The Robert Guthrie Biochemical Genetics Lab (Buffalo, NY) 

Metabolism Clinic, Children’s Hospital Boston (MA) 

  • Gerard T Berry, MD , Director 
  • Phone: (617) 355-4695
  • Contact Person: Leah Hecht, NP, MEd, Nurse Practitioner 
  • Phone: (617) 355-4697 
  • Website

UCSD Mitochondrial and Metabolic Disease Center (San Diego, CA) 

Kennedy-Krieger Institute  (Baltimore, MD)  

The Clinic for Special Children (Lancaster County, PA)

  • Kevin A Strauss, Medical Director
  • Erik Puffenberger, PhD, Lab Director
  • Phone: (717) 687-9407
  • Clinic

Emory Genetics Lab (Atlanta, GA)

Virtual Medical Practice, LLC (Atlanta, GA)

Biochemical Genetics – Metabolic Disease Lab at (CHOP) Children’s Hospital of Philadelphia (PA) 

Washington University at St Louis (MO) – Molecular Diagnostic Lab 

  • Julie Neidich, MD, FACMG, FAAP, Director
  • Phone: (314) 454-8685
  • Diagnostic Lab
  • Agnes Austria – BJH Technical Supervisor (main Lab contact)
  • (314) 454-7601
  • Metabolic Clinic – St Louis Children’s Hospital 
  • Patricia Dickson, MD, Division Chief
  • Main Office:(314) 454-6093

Oregon Health Sciences University – Biochemical Genetics Laboratory (Portland, OR) 

Univ of California at San Francisco – Medical Genetics Clinic (San Francisco, CA)

Children’s Hospital Colorado – Biochemical Genetics Lab (Denver, CO) 

  • Stephen Goodman, MD & Michael Woontner, PhD
  • Phone: (720) 777-6711 (Lab Client Services)
  • Website 

Yale Biochemical Disease Detection Lab (New Haven, CT) 

Helen DeVos Children’s Hospital—Biochemical Genetics (Grand Rapids, MI)

  • Stacie Adams, MD Section Chief
  • Phone: 616-486-9830
  • Website

Tulane Human Genetics Program (New Orleans, LA)

Univ of Missouri Health Care – Metabolic Genetics Clinic (Columbia, MO) 

Massachusetts General Hospital (Boston, MA) 

Neurometabolic & Mitochondrial Clinic (Houston, TX)

Medical Neurogenetics (Atlanta, GA)

The Hospital for Sick Children – Genetic Metabolic Lab & Molecular Genetics Lab (Toronto, Canada)

Royal Manchester Children’s Hospital – Willink Biochemical Biochemical Genetics Lab (Manchester, UK)

Great Ormond Street Hospital for Children Metabolic Unit (London, UK) 

University of Amsterdam (Holland) – Lab Genetic Metabolic Diseases

The Children’s Hospital Westmead (Sydney, Australia)

NSW Biochemical Genetics Lab

Women’s and Childrens’ Hospital (Adelaide, Australia)

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