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Research Domain - Rare Genetic Conditions

Select Protocol ID

Scale for the Assessment and Rating of Ataxia (SARA)
#220101

National Health and Nutrition Examination Survey (NHANES), Anthropometry procedures, 2007-2008
#220201

Tanner and Whitehouse Method (TW2)
#220301

Child Oral Health Impact Profile-Short Form 19 (COHIP-SF 19)
#220401

National Health and Nutrition Examination Survey (NHANES), Laboratory procedures Manual, 2010
#220501

Oswestry Disability Index (ODI) ©, version 2.1a 
#220601

Newcastle Paediatric Mitochondrial Disease Scale (NPMDS), 0-24 months
#220701

Newcastle Paediatric Mitochondrial Disease Scale (NPMDS), 12-18 years
#220703

Newcastle Paediatric Mitochondrial Disease Scale (NPMDS), 2-11 years
#220702

Newcastle Mitochondrial Disease Adult Scale (NMDAS), 12-18 years
#220704

Autonomic Nervous System Questionnaire (ANSQ) & American Thoracic Society (ATS) Statement on CCHS (2010)
#220801

British Society of Echocardiography (BSE) Education Committee guidelines for a standard transthoracic echocardiogram (TTE)
#220901

My Family Health Portrait (MFHP)
#221001

World Health Organization (WHO) & Centers for Disease Control and Prevention (CDC) growth charts
#221201

Patient-Reported Outcomes Measurement Information System® (PROMIS) 29 Profile, v. 2.0 Adult Profile
#221302

Patient-Reported Outcomes Measurement Information System® (PROMIS) Item Bank, v.1.1, Pediatric Profile 25
#221301

Mullen Scales of Early Learning
#221401

Adams forward bend test & x-ray with Cobb technique
#221601

Pediatric Outcomes Data Collection Instrument (PODCI), v. 2.0,Parent/Child Outcomes Instrument, 2005
#221501

LeGrys, V.A., et al. Diagnostic sweat testing: The Cystic Fibrosis Foundation guidelines. J Pediatr, 2007
#221701
Release Date:

April 30, 2015

Scope of Domain:
Scope Elements Final Protocols To Toolkit (15)
family history
cardiac and vascular
pulmonary
renal
urogenital/reproductive
endocrine
hematological
metabolic
musculoskeletal
neurologic
ocular
hearing
craniofacial and dental/oro-facial
dermatologic
mutation
Working Group Roster:

WG Members:

Peter Byers, MD, Chair
University of Washington
School of Medicine
Seattle, WA
Janine Lewis, MS, CGC
ICF International
Rockville, MD
Joann Bodurtha, MD, MPH
Johns Hopkins University
McKusick-Nathans Institute of Genetic Medicine
Baltimore, MD
Cynthia Powell, MD, MS
University of North Carolina at Chapel Hill
School of Medicine
Chapel Hill, NC
Philip Giampietro, MD, PhD
University of Wisconsin, Madison
School of Medicine and Public Health
Madison, WI
Sarah Soden, MD
Children's Mercy Hospital
Kansas City, MO
Lisa Heral, RN, BA
Parkview Regional Medical Center
Fort Wayne, IN
Rodolfo Valdez, PhD
Centers for Disease Control and Prevention
National Center on Birth Defects and Developmental Disabilities (NCBDDD)
Atlanta, GA

SC Liaison, WG Manager and WG Supervisor:

Sharon F. Terry, MA, SC Liaison
Genetic Alliance
Washington, DC
Tracey L. Grant, MS, WG Manager
RTI International
Statistics and Epidemiology Division
Research Triangle Park, NC
Michael Phillips, MS, WG Supervisor
RTI International
Research Triangle Park, NC
Protocol Name Status DCW DD DD Mapping
Select Measure Name Protocols
Ataxia Rating Scale Ataxia Rating Scale
Body Proportions Body Proportions
Bone Age Bone Age
Child Oral Health Pain Child Oral Health Pain
Complete Blood Count (CBC) Complete Blood Count (CBC)
Disability Index Disability Index
Disease Progression and Regression Disease Progression and Regression - 0-24 Months
Disease Progression and Regression - 2-11 Years
Disease Progression and Regression - 12-18 Years
Disease Progression and Regression - Adult
Disorders of Respiratory Control with Inherent Autonomic Dysregulation Disorders of Respiratory Control with Inherent Autonomic Dysregulation
Echocardiography Phenotypes Echocardiography Phenotypes
Family Health History Family Health History
Growth Charts Growth Charts
Quality of Life Quality of Life - Pediatric
Quality of Life - Adult
Scale of Developmental Domains of Early Childhood Scale of Developmental Domains of Early Childhood
Scoliosis - Quality of Life Scoliosis - Quality of Life
Scoliosis - Physical Assessment Scoliosis - Physical Assessment
Sweat Chloride Test Sweat Chloride Test