Pediatric Genetics

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Pediatric Clinical Geneticists demonstrate competence in providing comprehensive diagnostic, management and counseling services for genetic disorders. (NUCC 207SG0201X)

81 North Mario Capecchi Drive
Salt Lake City, UT 84113
Service Categories:
Organization Name: Intermountain Primary Children's Hospital / University of Utah Health
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Address:
81 North Mario Capecchi Drive
Salt Lake City, UT 84113
Email: joshua.bonkowsky@hsc.utah.edu
Services Provided:

Provides personalized genetic therapies and therapy development, including rapid genetic testing and research on whole genome sequencing.

Initial efforts are focused on providing answers to critically-ill infants in the newborn intensive care unit, and children with severe seizures and heart conditions.

Provider Profiles:

Josh Bonkowsky, MD, PhD- Director

Source: Medical Home Portal
Last Updated: 12/9/2020
UT
Phone: 310-883-4353
Service Categories:
Address:
UT
Phone: 310-883-4353
Service Categories:
Email: ginaszajnuk@gmail.com
Services Provided:

RUN stands for Rare & Undiagnosed Network, a group of advocates, patients, families, researchers, and healthcare providers who share the same mission and vision to bring genome sequencing into clinical practice covered by insurance, to help undiagnosed patients and to better understand these conditions.

Provider Profiles:

Gina Szajnuk, Co-founder & Executive Director

Source: Medical Home Portal
Last Updated: 11/16/2020
7101 Wisconsin Avenue
Bethesda, MD 20814
Phone: 301-718-9603
Service Categories:
Organization Name: American College of Medical Genetics and Genomics
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Address:
7101 Wisconsin Avenue
Bethesda, MD 20814
Phone: 301-718-9603
Email: acmg@acmg.net
Services Provided: An online database for pediatric genetics centers, containing the locations of genetics clinics that have requested to be listed.
Check Pediatric Genetics under "Search by genetic service type(s)”.
Provider Profiles: American College of Medical Genetics and Genomics (ACMG)
Source: MHP-Nationwide
Last Updated: 3/13/2020
50 North Medical Drive
Salt Lake City, UT 84132
Phone: 801-581-2121
Service Categories:
Organization Name: Center for Genomic Medicine and Research, University of Utah Health
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Address:
50 North Medical Drive
Salt Lake City, UT 84132
Phone: 801-581-2121
Service Categories:
Eligibility: Children with serious, complex conditions who remain without a diagnosis. Application process.
Services Provided: The Penelope Program is currently focused on children with serious, complex conditions who remain without a diagnosis despite multiple evaluations. Families can apply through their health care providers through University of Utah Health Pediatrics.
Provider Profiles: The Penelope Program is a proud partnership between:
* Department of Pediatrics at U of U Health
* ARUP Laboratories
* USTAR Center for Genetic Discovery
* Center for Genomic Medicine at U of U Health
* Primary Children’s Hospital
Source: Medical Home Portal
Last Updated: 2/12/2019
3773 West 12600 South
Primary Children's Hospital Outpatient Services at Riverton
Riverton, UT 84065
Phone: 801-213-3599
Service Categories:
Organization Name: University of Utah Health- Department of Pediatrics
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Address:
3773 West 12600 South
Primary Children's Hospital Outpatient Services at Riverton
Riverton, UT 84065
Phone: 801-213-3599
Fax: 801-585-7252
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 (NF-1 & NF-2)
  • Prader-Willi Syndrome
  • Marfan syndrome
  • Down syndrome
  • Chromosome 22q11
  • Deletion syndrome
  • Turner syndrome
  • Chromosome abnormalities
Source: Medical Home Portal
Last Updated: 1/21/2021
81 North Mario Capecchi Drive
Eccles Primary Children's Hospital Outpatient Services Building
Salt Lake City, UT 84113
Phone: 801-213-3599
Service Categories:
Organization Name: University of Utah Health- Department of Pediatrics
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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
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 (NF-1 & NF-2)
  • Prader-Willi Syndrome
  • Marfan syndrome
  • Down syndrome
  • Chromosome 22q11
  • Deletion syndrome
  • Turner syndrome
  • Chromosome abnormalities
Source: Medical Home Portal
Last Updated: 1/21/2021
430 Cherry Drive
Denver, CO 80222-1530
Phone: 602-870-4752
Service Categories:
Organization Name: Colorado Department of Public Health and Environment
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Address:
430 Cherry Drive
Denver, CO 80222-1530
Phone: 602-870-4752
Eligibility: AZ, CO, MT, NM, NV, TX, UT, WY
Services Provided: Listing of genetics-related resources available in the region (AZ, CO, MT, NM, NV, TX, UT, WY) including clinical genetics, consumer support, newborn screening, prenatal genetics, genetics laboratories, and specialty clinics. Established in 1993 to provide private alternatives to support public programs for genetics and maternal health services and education. One of several Regional Genetic Services Directory
Provider Profiles: Regional area served, regional resource
Source: Medical Home Portal
Last Updated: 2/20/2020