PhenX Toolkit: Domains

Select	Protocol	ID
	Ataxia Rating Scale Scale for the Assessment and Rating of Ataxia (SARA)	#220101
	Body Proportions National Health and Nutrition Examination Survey (NHANES), Anthropometry procedures, 2007-2008	#220201
	Bone Age Tanner and Whitehouse Method (TW2)	#220301
	Child Oral Health Pain Child Oral Health Impact Profile-Short Form 19 (COHIP-SF 19)	#220401
	Complete Blood Count (CBC) National Health and Nutrition Examination Survey (NHANES), Laboratory procedures Manual, 2010	#220501
	Disability Index Oswestry Disability Index (ODI)©, version 2.1a	#220601
	Disease Progression and Regression - 0-24 Months Newcastle Paediatric Mitochondrial Disease Scale (NPMDS), 0-24 months	#220701
	Disease Progression and Regression - 12-18 Years Newcastle Paediatric Mitochondrial Disease Scale (NPMDS), 12-18 years	#220703
	Disease Progression and Regression - 2-11 Years Newcastle Paediatric Mitochondrial Disease Scale (NPMDS), 2-11 years	#220702
	Disease Progression and Regression - Adult Newcastle Mitochondrial Disease Adult Scale (NMDAS), 12-18 years	#220704
	Disorders of Respiratory Control with Inherent Autonomic Dysregulation Autonomic Nervous System Questionnaire (ANSQ) American Thoracic Society (ATS) Statement on CCHS (2010)	#220801
	Echocardiography Phenotypes British Society of Echocardiography (BSE) Education Committee guidelines for a standard transthoracic echocardiogram (TTE)	#220901
	Family Health History My Family Health Portrait (MFHP)	#221001
	Growth Charts World Health Organization (WHO) & Centers for Disease Control and Prevention (CDC) growth charts	#221201
	Quality of Life - Adult Patient-Reported Outcomes Measurement Information System® (PROMIS) 29 Profile, v. 2.0 Adult Profile	#221302
	Quality of Life - Pediatric Patient-Reported Outcomes Measurement Information System® (PROMIS) Item Bank, v.1.1, Pediatric Profile 25	#221301
	Scale of Developmental Domains of Early Childhood Mullen Scales of Early Learning	#221401
	Scoliosis - Physical Assessment Adams forward bend test & x-ray with Cobb technique	#221601
	Scoliosis - Quality of Life Pediatric Outcomes Data Collection Instrument (PODCI), v. 2.0,Parent/Child Outcomes Instrument, 2005	#221501
	Sweat Chloride Test 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 (20)
	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

Rare Genetic Conditions Supplemental Information includes:

Genetic Variant Nomenclature Standards

Additional Information for Rare Genetic Conditions Measures:

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

Research Domain - Rare Genetic Conditions

Research Domains:

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

#220101

Body Proportions National Health and Nutrition Examination Survey (NHANES), Anthropometry procedures, 2007-2008

#220201

Bone Age Tanner and Whitehouse Method (TW2)

#220301

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

#220401

Complete Blood Count (CBC) National Health and Nutrition Examination Survey (NHANES), Laboratory procedures Manual, 2010

#220501

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

#220601

Disease Progression and Regression - 0-24 Months Newcastle Paediatric Mitochondrial Disease Scale (NPMDS), 0-24 months

#220701

Disease Progression and Regression - 12-18 Years Newcastle Paediatric Mitochondrial Disease Scale (NPMDS), 12-18 years

#220703

Disease Progression and Regression - 2-11 Years Newcastle Paediatric Mitochondrial Disease Scale (NPMDS), 2-11 years

#220702

Disease Progression and Regression - Adult Newcastle Mitochondrial Disease Adult Scale (NMDAS), 12-18 years

#220704

Disorders of Respiratory Control with Inherent Autonomic Dysregulation Autonomic Nervous System Questionnaire (ANSQ) American Thoracic Society (ATS) Statement on CCHS (2010)

#220801

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

#220901

Family Health History My Family Health Portrait (MFHP)

#221001

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

#221201

Quality of Life - Adult Patient-Reported Outcomes Measurement Information System® (PROMIS) 29 Profile, v. 2.0 Adult Profile

#221302

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

#221301

Scale of Developmental Domains of Early Childhood Mullen Scales of Early Learning

#221401

Scoliosis - Physical Assessment Adams forward bend test & x-ray with Cobb technique

#221601

Scoliosis - Quality of Life Pediatric Outcomes Data Collection Instrument (PODCI), v. 2.0,Parent/Child Outcomes Instrument, 2005

#221501

Sweat Chloride Test LeGrys, V.A., et al. Diagnostic sweat testing: The Cystic Fibrosis Foundation guidelines. J Pediatr, 2007

#221701

Release Date:

Scope of Domain:

Working Group Roster:

Rare Genetic Conditions Supplemental Information includes:

Additional Information for Rare Genetic Conditions Measures:

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

Body Proportions
National Health and Nutrition Examination Survey (NHANES), Anthropometry procedures, 2007-2008

Bone Age
Tanner and Whitehouse Method (TW2)

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

Complete Blood Count (CBC)
National Health and Nutrition Examination Survey (NHANES), Laboratory procedures Manual, 2010

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

Disease Progression and Regression - 0-24 Months
Newcastle Paediatric Mitochondrial Disease Scale (NPMDS), 0-24 months

Disease Progression and Regression - 12-18 Years
Newcastle Paediatric Mitochondrial Disease Scale (NPMDS), 12-18 years

Disease Progression and Regression - 2-11 Years
Newcastle Paediatric Mitochondrial Disease Scale (NPMDS), 2-11 years

Disease Progression and Regression - Adult
Newcastle Mitochondrial Disease Adult Scale (NMDAS), 12-18 years

Disorders of Respiratory Control with Inherent Autonomic Dysregulation
Autonomic Nervous System Questionnaire (ANSQ) American Thoracic Society (ATS) Statement on CCHS (2010)

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

Family Health History
My Family Health Portrait (MFHP)

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

Quality of Life - Adult
Patient-Reported Outcomes Measurement Information System® (PROMIS) 29 Profile, v. 2.0 Adult Profile

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

Scale of Developmental Domains of Early Childhood
Mullen Scales of Early Learning

Scoliosis - Physical Assessment
Adams forward bend test & x-ray with Cobb technique

Scoliosis - Quality of Life
Pediatric Outcomes Data Collection Instrument (PODCI), v. 2.0,Parent/Child Outcomes Instrument, 2005

Sweat Chloride Test
LeGrys, V.A., et al. Diagnostic sweat testing: The Cystic Fibrosis Foundation guidelines. J Pediatr, 2007