Pediatric Genetics

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

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Note: Service listings do not represent a recommendation or endorsement by the Medical Home Portal staff or its sponsoring organizations; nor do they reflect any assessment of the quality or value of a listed Service.

UT

Riverton, UT

Pediatric Medical Genetics Metabolic Clinic, University of Utah / Primary Children's Hospital

3773 West 126 South
Riverton, UT 84065
Phone: 801-213-3599

Service Categories:

healthcare.utah.edu/pediatrics/services/genetics.php

Organization Name: University of Utah / Primary Children's Hospital

Address: 3773 West 126 South
Riverton, UT 84065

Phone: 801-213-3599

Fax: 801-585-7252

Service Categories:

URL: http://healthcare.utah.edu/pediatrics/services/genetics.php

Eligibility: All ages, referral by primary provider

Wheelchair Accessible: Yes

Services Provided: Provides genetic counseling and consultation for conditions including chromosomal disorders, single gene disorders and recognizable syndromes. Weekly clinics at Primary Children's Hospital (Salt Lake and Riverton). The clinic staff is a team of interdepartmental specialists in human genetics including medical geneticists, dysmorphologists, pediatricians, obstetricians, and genetic counselors.

The Metabolic Clinic held weekly at Primary Children's Hospital is staffed by a team of interdepartmental specialists in human genetics including clinical geneticists, counselors and neurologists.

Provider Profiles: PCH Outpatient Services also at Primary Children's, Salt Lake City
Physicians in Division of Pediatrics, University of Utah School of Medicine

Division of Medical Genetics, 295 Chipeta Way, SLC, 84108
Debbie Mason, RN

Original Source:	MedHome Portal
Last Updated:	2/9/2017

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Salt Lake City, UT

Pediatric Medical Genetics, University of Utah / Primary Children's Hospital

81 N Mario Capecchi Drive
Eccles Primary Children's Outpatient Services Bldg.
Salt Lake City, UT 84113
Phone: 801-213-3599

Service Categories:

healthcare.utah.edu/pediatrics/services/genetics.php

Organization Name: University of Utah / Primary Children's Hospital

Address: 81 N Mario Capecchi Drive
Eccles Primary Children's Outpatient Services Bldg.
Salt Lake City, UT 84113

Phone: 801-213-3599

Fax: 801-585-7252

Service Categories:

URL: http://healthcare.utah.edu/pediatrics/services/genetics.php

Eligibility: Referral required from primary physician, individuals of all ages with a wide range of genetic conditions

Wheelchair Accessible: Yes

Services Provided: Provides genetic counseling and consultation for conditions including chromosomal disorders, single gene disorders and recognizable syndromes. Weekly clinics at Primary Children's Hospital (Salt Lake and Riverton). The clinic staff is a team of interdepartmental specialists in human genetics including medical geneticists, dysmorphologists, pediatricians, obstetricians, and genetic counselors.

The division also provides inpatient consultations and participates in several outreach clinics and multidisciplinary teams including Hearing assessment clinic, Neurofibromatosis clinic, Prader-Willi clinic, Spina Bifida clinic, etc.

Provider Profiles: PCH Outpatient Services also at Riverton, 3773 W. 126 S., Riverton, UT 84065
Physicians in Division of Pediatrics, University of Utah School of Medicine

Division of Medical Genetics, 295 Chipeta Way, SLC, 84108
Debbie Mason, RN

For appointments or referrals, call 801 213-3599 and choose option #1, then ask to speak with the Referral Team. This will give you the most comprehensive and coordinated experience.

Original Source:	MedHome Portal
Last Updated:	2/13/2017

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Penelope Program, Center for Genomic Medicine and Research, University of Utah Health

50 North Medical Drive
Salt Lake City, UT 84132
Phone: 801-581-2121

Service Categories:

uofuhealth.utah.edu/center-genomic-medicine/research/penelope-program/

Organization Name: Center for Genomic Medicine and Research, University of Utah Health

Address: 50 North Medical Drive
Salt Lake City, UT 84132

Phone: 801-581-2121

Service Categories:

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

Original Source:	MedHome Portal
Last Updated:	2/12/2019

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Nationwide

Find a Genetic Service (ACMG)

7101 Wisconsin Avenue
Bethesda, MD 20814
Phone: 301-718-9603

Service Categories:

www.acmg.net/ACMG/Genetic_Services_Directory_Search.aspx

Address: 7101 Wisconsin Avenue
Bethesda, MD 20814

Phone: 301-718-9603

Service Categories:

Email: acmg@acmg.net

URL: https://www.acmg.net/ACMG/Genetic_Services_Directory_Search.aspx

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)

Original Source:	MHP-Nationwide
Last Updated:	5/13/2019

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Rare & Undiagnosed Network (RUN)

Phone: 310-883-4353

Service Categories:

rareundiagnosed.org/

Address:

Phone: 310-883-4353

Service Categories:

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 to help undiagnosed patients and to better understand these conditions.

Provider Profiles: Gina Szajnuk, Co-founder & Executive Director

Original Source:	MedHome Portal
Last Updated:	2/12/2019

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CO

Denver, CO

Mountain States Genetics Foundation (MOST), Colorado Department of Public Health and Environment

430 Cherry Drive
Denver, CO 80222-1530
Phone: 602-870-4752

Service Categories:

rarediseases.org/organizations/mountain-states-genetics-foundation/

Organization Name: Colorado Department of Public Health and Environment

Address: 430 Cherry Drive
Denver, CO 80222-1530

Phone: 602-870-4752

Service Categories:

URL: https://rarediseases.org/organizations/mountain-states-genetics-foundation/

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

Original Source:	MedHome Portal
Last Updated:	6/25/2018

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Pediatric Genetics

UT (3)

Riverton (1)

Salt Lake City (2)

Nationwide (2)

CO (1)

Denver (1)

UT

Riverton, UT

Salt Lake City, UT

Nationwide

CO

Denver, CO