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Pediatric Genetics

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

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
Service Categories:
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:
Genetic Testing and Counseling
Pediatric Genetics
Pediatric Genetics Clinics
Pediatric Metabolic Clinics
Pediatric Metabolics
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 (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
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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
Service Categories:
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:
Genetic Testing and Counseling
Pediatric Genetics
Pediatric Genetics Clinics
Pediatric Metabolic Clinics
Pediatric Metabolics
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 (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
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Rare & Undiagnosed Network (RUN) View on Map
UT
 Phone: 310-883-4353
Service Categories:
Address:
UT
Phone: 310-883-4353
Service Categories:
Pediatric Genetics
Email: ginaszajnuk@gmail.com
URL: https://rareundiagnosed.org/
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: 4/25/2021
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Penelope Program, Center for Genomic Medicine and Research, University of Utah Health View on Map
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
(Show others in Organization)
Address:
50 North Medical Drive
Salt Lake City, UT 84132
Phone: 801-581-2121
Service Categories:
Pediatric Genetics
URL: https://uofuhealth.utah.edu/center-genomic-medicine/research/penelope-program/
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
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Center for Personalized Medicine, Intermountain Primary Children's Hospital / University of Utah Health
81 North Mario Capecchi Drive
Salt Lake City, UT 84113
Service Categories:
Organization Name: Intermountain Primary Children's Hospital / University of Utah Health
(Show others in Organization)
Address:
81 North Mario Capecchi Drive
Salt Lake City, UT 84113
Service Categories:
Clinical Trials Research
Pediatric Genetics
Email: joshua.bonkowsky@hsc.utah.edu
URL: https://intermountainhealthcare.org/primary-childrens/programs-specialties/personalized-medicine
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
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Find a Genetic Service, American College of Medical Genetics and Genomics View on Map
7101 Wisconsin Avenue
Bethesda, MD 20814
 Phone: 301-718-9603
Service Categories:
Organization Name: American College of Medical Genetics and Genomics
(Show others in Organization)
Address:
7101 Wisconsin Avenue
Bethesda, MD 20814
Phone: 301-718-9603
Service Categories:
Genetic Testing and Counseling
Pediatric Genetics
Pediatric Genetics Clinics
Email: acmg@acmg.net
URL: https://clinics.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
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