Practice Guidelines

Practice guidelines indicated on the tables below can be found on the organization websites (links in above acronym list).

This is not an inclusive list of available Practice Guidelines and Policy Statements.

wdt_ID Indication AAP ACMG ACOG NCCN NSGC Other Guiding Organization(s)
1 Colorectal Cancer x
2 Cowden Syndrome x
3 Direct to Consumer Genetic Testing x x American Society of Human Genetics
4 Familial Adenomatous Polyposis x
5 Genetic Testing and Communicating Results x
6 Hemihyperplasia x
7 Hereditary Breast and Ovarian Cancer Syndrome x x x x
8 Hereditary Cancer Predisposition x x x American Society of Clinical Oncology
9 Incidental Findings x
10 Informed Consent for Genome/Exome Sequencing x
11 Juvenile Polyposis Syndrome x
12 Li Fraumeni Syndrome X
13 Lynch Syndrome x x
14 MUTYH-Associated Polyposis X
15 Neurofibromatosis, Type I x
16 Noonan Syndrome/Rasopathy x
17 Peutz-Jeghers Syndrome x
18 Polyposis Syndrome x
19 Reporting Secondary Findings in Clinical Exome and Genome x
20 Serrated Polyposis Syndrome x
Indication AAP ACMG ACOG NCCN NSGC Other Guiding Organization(s)

wdt_ID Indication AAP ACMG ACOG NCCN NSGC Other Guiding Organization(s)
1 Ashkenazi Jewish Descent x
2 Cystic Fibrosis x x
3 Direct to Consumer Genetic Testing x x American Society of Human Genetics
4 Fragile X Syndrome x x x
5 Genetic Testing and Communicating Results x
6 Hereditary Cancer Predisposition x x x American Society of Clinical Oncology
7 Incidental Findings x
8 Informed Consent for Genome/Exome Sequencing x
9 Preconception & Prenatal Carrier Screening x x
10 Reporting Secondary Findings in Clinical Exome and Genome x
11 Reporting Secondary Findings in Clinical Exome and Genome sequencing x
12 Spinal Muscular Atrophy (SMA) x x Neuromuscular Network
Indication AAP ACMG ACOG NCCN NSGC Other Guiding Organization(s)

wdt_ID Indication AAP ACMG ACOG NCCN NSGC Other Guiding Organization(s)
1 Achondroplasia x
2 Alzheimer Disease x x
3 Autism Spectrum Disorder x
4 Cardiomyopathy x
5 Chromosomal Abnormalities x
6 Congenital Heart Disease American College of Cardiology; American Heart Association
7 Congenital Hypothyroidism x National Library of Medicine; National Center for Biotechnology Information
8 Consanguinity x
9 Cowden Syndrome x
10 Developmental Delay x
11 DiGeorge syndrome (22q11.2 Deletion syndrome) National Library of Medicine
12 Direct to Consumer Genetic Testing x x American Society of Human Genetics
13 Disorders of Sex Development Intersex Society of North America, Consortium on the Management of Disorders of Sex Development, National Library of Medicine
14 Down Syndrome x x National Library of Medicine
15 Ethical and Policy Issues in Genetic Testing and Screening of Minors x x x
16 Exome and Genome Sequencing for Pediatric Patients with Congenital Anomalies or Intellectual Disability x
17 Fabry Disease x
18 Factor V Leiden x
19 Familial Adenomatous Polyposis x
20 Familial Hypercholesterolemia American College of Cardiology; American Heart Association
21 Fragile X Syndrome x x x
22 Genetic Testing and Communicating Results x
23 Genetic Testing of Children in the Adoption Process x x American Society of Human Genetics
24 Glycogen Storage Diseases x
25 Hearing Loss x
26 Hemihyperplasia x
27 Hemoglobinopathies x
28 Hereditary Cancer Predisposition x x x American Society of Clinical Oncology
29 Hereditary Hemorrhagic Telangiectasia American College of Physicians
30 Huntington Disease Huntington Disease Society of America
31 Incidental Findings x
32 Informed Consent for Genome/Exome Sequencing x
33 Intellectual Disability x
34 Intrauterine Growth Restriction x
35 Juvenile Polyposis Syndrome x
36 Malignant Hyperthermia Susceptibility
37 Marfan Syndrome x
38 MTHFR Polymorphism Testing x
39 Neurofibromatosis, Type I x
40 Newborn Screening x x x
41 Noonan Syndrome/Rasopathy x
42 Osteogenesis Imperfecta x
43 Phenylalanine Hydroxylase Deficiency x
44 Phenylketonuria (PKU) and Maternal PKU x x x
45 Pompe Disease x
46 Prader-Willi Syndrome x
47 Preconception & Prenatal Carrier Screening x x
48 Reporting Secondary Findings in Clinical Exome and Genome x
49 Reporting Secondary Findings in Clinical Exome and Genome sequencing x
50 Russell-Silver Syndrome National Library of Medicine; Magic Foundation
51 Short Stature x
52 Sickle Cell Disease x American Society of Hematology; Centers for Disease Control & Prevention
53 Spinal Muscular Atrophy (SMA) x x Neuromuscular Network
54 Thoracic Aortic Aneurysm and Dissection (TAAD) American College of Cardiology; American Heart Association
55 Turner Syndrome x National Library of Medicine
56 Uniparental Disomy (UPD) x
57 Williams Syndrome (7p Deletion) x Williams Syndrome Organization
Indication AAP ACMG ACOG NCCN NSGC Other Guiding Organization(s)

wdt_ID Indication AAP ACMG ACOG NCCN NSGC Other Guiding Organization(s)
1 Advanced Paternal Age x x
2 Ashkenazi Jewish Descent x
3 Chromosomal Abnormalities x
4 Clinical Practice Resource for Autosomal Recessive and X-linked Conditions During Preconception and Pregnancy x
5 Consanguinity x
6 Cystic Fibrosis x x
7 Direct to Consumer Genetic Testing x x American Society of Human Genetics
8 Direct-To-Consumer Prenatal Testing for Multigenic or Polygenic Disorders x
9 Fragile X Syndrome x x x
10 Genetic Testing and Communicating Results x
11 Hereditary Cancer Predisposition x x x American Society of Clinical Oncology
12 Incidental Findings x
13 Informed Consent for Genome/Exome Sequencing x
14 Intrauterine Growth Restriction x
15 Neural Tube Defects & Folic Acid x x x National Library of Medicine
16 Newborn Screening x x x
17 Phenylketonuria (PKU) and Maternal PKU x x x
18 Preconception & Prenatal Carrier Screening x x
19 Prenatal Diagnosis and Screening x x x
20 Prenatal Dianosis of Fetal Chromosomal Abnormalities x x
21 Recurrent Pregnancy Loss x x
22 Reporting Secondary Findings in Clinical Exome and Genome x
23 Reporting Secondary Findings in Clinical Exome and Genome sequencing x
24 Spinal Muscular Atrophy (SMA) x x Neuromuscular Network
25 Stillbirth x
26 Thrombophilia x
Indication AAP ACMG ACOG NCCN NSGC Other Guiding Organization(s)

wdt_ID Indication AAP ACMG ACOG NCCN NSGC Other Guiding Organization(s)
1 Clinical Practice Resource for Autosomal Recessive and X-linked Conditions During Preconception and Pregnancy x
2 Direct to Consumer Genetic Testing x x American Society of Human Genetics
3 Direct-To-Consumer Prenatal Testing for Multigenic or Polygenic Disorders x
4 Ethical and Policy Issues in Genetic Testing and Screening of Minors x x x
5 Exome and Genome Sequencing for Pediatric Patients with Congenital Anomalies or Intellectual Disability x
6 Genetic Testing and Communicating Results x
7 Genetic Testing of Children in the Adoption Process x x American Society of Human Genetics
8 Hereditary Cancer Predisposition x x x American Society of Clinical Oncology
9 Incidental Findings x
10 Informed Consent for Genome/Exome Sequencing x
11 Pedigree Nomenclature x
12 Reporting Secondary Findings in Clinical Exome and Genome x
13 Reporting Secondary Findings in Clinical Exome and Genome sequencing x
Indication AAP ACMG ACOG NCCN NSGC Other Guiding Organization(s)