Newborn Screening & Metabolic Diagnostic Labs/Clinics

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

images NBS LabsNote: 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 US/International Metabolic and Genetics Clinics.

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 Medical 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 NBS Lab and Test Information
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 SNS 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 SNS 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:
Dimitar Gavrilov, MD, PhD, FACMG
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

University of Colorado Expanded Newborn Screening Program (Aurora, CO)
The Expanded Newborn Screening Program - parents can have their babies screened for 20+ additional disorders at the Biochemical Genetics Laboratory University of Colorado Health Sciences Center
Phone: (303)724-3826
Lab 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.
Phone: (440)498-7484
Newborn Screening Center (India)
Tel No +912512802975

NeoGen Labs - 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. 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 NBS services to all babies born in government healthcare facilities in the state. This is the first (and only) comprehensive newborn screening initiative in South Asia.
Panel of tests performed
Director: Rohit Cariappa, PhD,DABCC
Phone: +91 80 2580 5600
Fax: +91 80 2580 5603


Eastern Biotech and Life Sciences - Middle East
Phone: +971 4 369 2061

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)*
Phone: (412) 692-8631
Jerry Vockley, MD, PhD, Division Chief
*Families please contact Annette Grechen at (412) 692-7775 and not Dr Vockley
Elizabeth (Jenkins) McCracken, MS, CGC
Phone: (412) 692-5662
Nicole (Walters) Payne, RD Metabolic Dietitian
Phone: (412) 692-5099

Cincinnati Children's Research Foundation (Cincinnati, OH)
Arnold W. Strauss, MD, Director
Rachford Professor and Chair of Pediatrics
University of Cincinnati College of Medicine
3333 Burnet Avenue, MLC 3016
Cincinnati, OH  45229

Molecular Genetics Lab
Phone: (513) 636-4474
Dr Strauss' Fax: 513-636-0345
Clare Douglas, Sr. Executive Assistant
Phone: *(513) 636-2942

Cincinnati Children’s Molecular Genetics Laboratory Offers Molecular Diagnosis for MCAD and VLCAD: The Laboratory’s team of board certified molecular geneticists and genetic counselors is pleased to join forces with Dr. Arnold Strauss, formerly of Vanderbilt University, to provide state of the art molecular genetic testing and comprehensive interpretation of test results for medium chain acyl Co-A dehydrogenase deficiency (MCAD) and very long chain acyl Co-A dehydrogenase deficiency (VLCAD).

PCR-based sequencing of the ACAMD or ACADVL gene can be used to identify mutations in:

  • Patients with clinical symptoms consistent with VLCAD or MCAD,
  • Asymptomatic infants with an abnormal newborn screen test result,
  • Individuals with an abnormal acyl carnitine profile consistent with MCAD or VLCAD,
  • Presymptomatic diagnosis in at-risk siblings of a patient with MCAD or VLCAD,
  • Carrier testing of parents and relatives of patient with MCAD or VLCAD,
  • Prenatal diagnosis in a pregnancy at risk for MCAD or VLCAD.

We provide:

  • Detailed clinical interpretations by a team of experts in molecular diagnostics, clinical care and genetic counseling,
  • Rapid turn-around times,
  • Competitive costs,
  • Commercial, institutional and Medicaid billing options,  
  • Responsive customer support,
  • CLIA and CAP certified laboratory.

We are very excited to be working with Dr. Strauss to bring these clinical tests to you and your patients. For further information, including test requisition, CPT codes, specimen requirements and shipping information, please visit the Molecular Genetics Laboratory or call at 513-636-4474 to speak with our customer service staff or a genetic counselor. Billing inquiries can be addressed by calling 1-866-450-4198.

Medical College of Wisconsin - Fatty Acid Oxidation Disorder Lab (Milwaukee, WI)
William Rhead, MD, PhD, Director
Phone: (414) 266-2979
Genetics Center

Institute of Metabolic Disease (Dallas,TX)
**No Clinical treatment for FODs is available at the Institute**
Dr Charles Roe has retired from the Institute. His c7 oil research has been transferred to Dr Jerry Vockley at the Children's Hospital of Pittsburgh.
Phone: (214) 820-4533 for Diagnostic testing if child or adult is symptomatic
Larry Sweetman, PhD, Mass Spec Lab Director
Fax: (214) 820-4853
Xiaowei Fu, MD, PhD, Assistant Lab Director
Disorders and Tests

Vanderbilt University Medical Center - Division of Medical Genetics Clinic (Nashville, TN) - Treatment & Consultation for FODs
(Mutational analyses for MCAD, LCHAD, VLCAD and TFP)
John Phillips III, MD, Director, Division of Medical Genetics
Phone: (615) 322-7601
Lab phones: (615) 322-2678; (615) 322-2635
Medical Genetics

Cleveland Clinic Foundation - Neurometabolism & Mitochondrial Disease (Cleveland, OH)
Clinical Treatment for FODs (testing is outsourced)

Marvin Natowicz, MD, PhD
Phone: (216) 445-5686
Sumit Parikh, MD
Phone: (216) 444-1994 or 1-800-223-2273, ext. 45559
Pediatric Genetics Genetics Team

Center for Inherited Disorders of Energy Metabolism - Case Western Reserve University (Cleveland, OH)
Douglas S. Kerr, MD, PhD, Director
Charles L. Hoppel, MD, Co-Director
Phone:(216) 844-1286
Metabolic and Mito Lab

Duke University Medical Center - Biochemical Genetics Lab (Durham, NC)
Y.T. Chen, MD, PhD, Medical Director
David Millington, PhD, Technical and Onsite Director
Phone: (919) 549-0445
Biochemical Genetics Lab
Clinical Services

The Robert Guthrie Biochemical Genetics Lab (Buffalo, NY)
Georgirene Vladutiu, PhD, Director
Phone: (716) 888-1379
Genetics Lab

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) 355-2521

UCSD Mitochondrial and Metabolic Disease Center (San Diego, CA)
William Nyhan, MD, PhD, Head, Biochemical Genetics
Bruce Barshop, MD, PhD, Co-Director, Biochemical Genetics Lab
Richard Haas, MD, Co-Director, MMDC
Robert K Naviaux, MD, PhD, Co-Director MMDC
Contact: Cristal Melendez, administrative assistant
Phone: (619) 543-7800
Biochemical Genetics Lab
Mito and Metabolic Disease Center

Kennedy-Krieger Institute Clinical Mass Spectrometry Lab (Baltimore, MD)
Richard Kelley, MD, PhD, Director
Phone: (410) 502-9444
Metabolism and Genetics

The Clinic for Special Children (Lancaster County, PA)
D. Holmes Morton, MD, Clinic Director
Erik Puffenberger, PhD, Lab Director
Phone: (717) 687-9407

Emory Genetics Lab (Atlanta, GA)
Phone: (800) 366-1502
Metabolic Lab

Metabolic and Nutrition Clinic

Virtual Medical Practice, LLC (Atlanta, GA)
Fran Kendall, MD
Phone: (404) 720-0820
Fax: (404) 601-9931
Clinical practice

Biochemical Genetics - Metabolic Disease Lab at (CHOP) Children's Hospital of Philadelphia (PA)
Michael J Bennett, PhD, Director
Phone: (215) 590-3394
Metabolic Diagnostic Lab
Clinical Services

Washington University at St Louis (MO) - Molecular Diagnostic Lab
Barbara Zehnbauer, PhD, Director
Phone: (314) 454-8609
Diagnostic Lab
Agnes Austria - BJH Technical Supervisor (main Lab contact)
(314) 454-7601
Metabolic Clinic - St Louis Children's Hospital
Dorothy Grange, MD
Laurie Sprietsma, RD, LD (main contact)
Phone: Dietician's direct line (314) 454-6261
Main Office:(314) 454-6093
Fax: (314) 454-2075

Oregon Health Sciences University - Biochemical Genetics Laboratory (Portland, OR)
Cary Harding, MD and Carolyn Sue Richards, PhD, Co-Directors
Phone: (503) 494-7703
Phone: (503) 494-5516
Clinics and Lab Services

Univ of California at San Francisco - Medical Genetics Clinic (San Francisco, CA)
For info: Kara Weisiger, Genetic Counselor
Phone: (415) 476-2757
Metabolic Disease Center

Univ of Colorado Health Sciences Center - Biochemical Genetics Lab (Denver, CO)
Stephen Goodman, MD & Johan Van Hove, MD, PhD, Directors
Phone: (303) 724-3826 Questions about CO Expanded NBS: Ask for Mike Woontner or Robert Binard
Genetic Labs and Metabolic Clinic
Expanded NBS

Yale Biochemical Disease Detection Lab (New Haven, CT)
Margretta Seashore, MD, Director
Phone: (203) 785-2662
Clinical Genetics

Tulane Human Genetics Program (New Orleans, LA)
For info: Chris Dvorak, MS, Certified Genetic Counselor
Phone: (504) 988-9836
Clinical and Lab Services

Univ of Missouri Health Care - Metabolic Genetics Clinic (Columbia, MO)
Richard Hillman, MD, Director, Metabolic Genetics
Dawn Peck, MS, Genetic Counselor, Coordinator, Metabolic Genetics Clinic
Phone: (573) 884-5192
Medical Genetics Lab and Clinic

Massachusetts General Hospital (Boston, MA)
Vivian Shih, MD, Director
Phone: (617) 726-3884
Genetic Services

Neurometabolic & Mitochondrial Clinic (Houston, TX)
Mary Kay Koenig, MD, Director, University of Texas Houston
Contact: LaKeesha Minor, RN, Nurse Coordinator
Mitochondrial Clinic: (713) 500-7164
Mitochondrial Fax:  (713) 500-0719
Medical Genetics and Mito Center

Medical Neurogenetics (Atlanta, GA)
Director: Dr John Shoffner
Suite 250
One Dunwoody Park
Atlanta, GA 30338
Phone: (678) 225-0222
Fax: (678) 225-0212
Testing Services
Maureen Starnes, CPNP has joined our group and will be scheduling appointments for routine follow up appointments. She has a special interest in patients with mitochondrial disease. Her experience is extensive and includes the neonatal intensive care unit and Pediatric Neurology (Emory Children’s Center). Appointments will allow us to follow patients, review testing and records, assess the patients relative to the diagnostic criteria for mitochondrial disease, obtain appropriate follow up testing, answer questions, and inform patients and families about our research progress with new medications for treatment of mitochondrial disease. Please call Justin Phillips at 678-225-0222 or email to schedule follow up appointments with Maureen Starnes, CPNP.

The Hospital for Sick Children - Genetic Metabolic Lab & Molecular Genetics Lab (Toronto, Canada)
John Callhan, PhD, Director, Genetic Metabolic Laboratory
Contact: Ms.Susan Marcantonio, Administrative Coordinator
Phone: (416) 813-8599
Peter N. Ray, PhD, Director, Molecular Genetics Lab
Phone: (416) 813-6590 ( Leslie Steele, MSc)
Laboratory Services

Royal Manchester Children's Hospital - Willink Biochemical Biochemical Genetics Lab (Manchester, UK)
Dr Alan Cooper, Lab Director
Consultant paediatricians: Dr Ed Wraith, Dr John Walter, and Dr Andrew Morris
Phone: 0161 701 2137
Genetics Unit
Metabolic Clinical Consultants

Great Ormond Street Hospital for Children Metabolic Unit (London, UK)
Diagnostic and Clinical services
Prof Peter Clayton
Dr Stephanie Grunewald
Dr Maureen Cleary
Contact name: Susan Apter (0207405 9200 ext.5081)
Phone: +44 (0) 20 7405 9200 (Hospital - for contact or advice at any time)
Metabolic Clinical Services

University of Amsterdam (Holland) - Lab Genetic Metabolic Diseases
Prof Dr Ronald J A Wanders (diagnostic only)

Phone: 31 20 566 5958
Dr Frits A Wijburg (clinical treatment)
Metabolic Lab

The Children's Hospital Westmead (Sydney, Australia)
NSW Biochemical Genetics Lab

Diagnostic and Clinical services (NBS and Diagnostic)
Dr Bridget Wilcken

Phone: +61 2 9845 3654
Genetic Lab
NBS Services
Phone: +61 2 9845 3659

Women's and Childrens' Hospital (Adelaide, Australia)
Clinical services (NBS and Diagnostic)
Dr Janice Fletcher
Diagnostic services Enzo Ranieri
Phone: +61 8 8161 7295
Metabolic Lab and Metabolic Clinic

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