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Biochemical Genetics (Metabolics)

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Biochemical Geneticists perform and interpret biochemical analyses relevant to the diagnosis and management of human genetic diseases and and consult regarding laboratory diagnosis of a broad range of inherited disorders, including metabolic disorders. (from (NUCC Taxonomy)

Service Legend
Local Service
Statewide Service: Provides online resources, telehealth, or service at a satellite office.
Nationwide Service: Provides online resources, telehealth or services at a regional/national headquarters location.
Pediatric Medical Genetics, University of Utah Health- Department of Pediatrics View on Map
81 North Mario Capecchi Drive
Eccles Primary Children's Hospital Outpatient Services Building
Salt Lake City, UT 84113
 Phone: 801-213-3599
Organization Name: University of Utah Health- Department of Pediatrics
(Show others in Organization)
Address:
81 North Mario Capecchi Drive
Eccles Primary Children's Hospital Outpatient Services Building
Salt Lake City, UT 84113
Phone: 801-213-3599
Fax: 801-585-7252
Service Categories:
Biochemical Genetics (Metabolics)
Fetal Alcohol Spectrum Disorders Clinics
Genetic Testing and Counseling
Medical Genetics
Neurofibromatosis Clinics
URL: https://healthcare.utah.edu/pediatrics/programs-services/genetics.php
Wheelchair Access: Yes
Eligibility:

Referral required from primary physician. Open to individuals of all ages with a wide range of genetic conditions.
Services Provided:

Provides genetic counseling and consultation for conditions including chromosomal disorders, single gene disorders and recognizable syndromes. 

Services Include:

  • Metabolic clinic
  • Lysosomal storage disorders clinic
  • Fetal alcohol syndrome
  • Newborn screening counseling & education
  • Pediatric general evaluation
    • Disorders of growth
    • Neurocognitive impairment including autism
    • Birth defects
    • Distinctive facial features
    • Hearing impairment (in conjunction with otolaryngology)

Conditions and Treatments:

  • Neurofibromatosis (NF1 & NF2)
  • Prader-Willi Syndrome
  • Marfan syndrome
  • Down syndrome
  • Chromosome 22q11
  • Deletion syndrome
  • Turner syndrome
  • Chromosome abnormalities
Source: Medical Home Portal
Last Updated: 12/22/2021
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Pediatric Medical Genetics, University of Utah Health- Department of Pediatrics View on Map
3773 West 12600 South
Primary Children's Hospital Outpatient Services at Riverton
Riverton, UT 84065
 Phone: 801-213-3599
Organization Name: University of Utah Health- Department of Pediatrics
(Show others in Organization)
Address:
3773 West 12600 South
Primary Children's Hospital Outpatient Services at Riverton
Riverton, UT 84065
Phone: 801-213-3599
Fax: 801-585-7252
Service Categories:
Biochemical Genetics (Metabolics)
Fetal Alcohol Spectrum Disorders Clinics
Genetic Testing and Counseling
Medical Genetics
Neurofibromatosis Clinics
URL: https://healthcare.utah.edu/pediatrics/programs-services/genetics.php
Wheelchair Access: Yes
Eligibility:

Referral required from primary physician. Open to individuals of all ages with a wide range of genetic conditions.
Services Provided:

Provides genetic counseling and consultation for conditions including chromosomal disorders, single gene disorders and recognizable syndromes. 

Services Include:

  • Metabolic clinic
  • Lysosomal storage disorders clinic
  • Fetal alcohol syndrome
  • Newborn screening counseling & education
  • Pediatric general evaluation
    • Disorders of growth
    • Neurocognitive impairment including autism
    • Birth defects
    • Distinctive facial features
    • Hearing impairment (in conjunction with otolaryngology)

Conditions and Treatments:

  • Neurofibromatosis (NF1 & NF2)
  • Prader-Willi Syndrome
  • Marfan syndrome
  • Down syndrome
  • Chromosome 22q11
  • Deletion syndrome
  • Turner syndrome
  • Chromosome abnormalities
Source: Medical Home Portal
Last Updated: 12/22/2021
Show more details ...
National PKU Alliance View on Map
Nationwide Provider
954 Lexington Avenue, #269
New York, NY 10021
 Phone: 715-495-4008
Nationwide Provider
Address:
954 Lexington Avenue, #269
New York, NY 10021
Phone: 715-495-4008
Service Categories:
Biochemical Genetics (Metabolics)
Disease/Disability Information
Email: info@npkua.org
URL: https://www.npkua.org/
Services Provided:

Provides information about PKU, research, advocacy, and resources.

Services Include:

  • Find a PKU Clinic by state, zip code, or map.
  • PKU Guide for New Parents
  • PKU Patient Registry
  • Clinical Trial Locator
  • Support Programs
  • Educational Videos
  • Insurance Coverage 101
  • School Information
  • Cooking & Food
Source: MHP-Nationwide
Last Updated: 2/2/2023
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