AAP 2025 - GDD and ID
This term is defined as the failure to meet expected developmental milestones in several areas of intellectual functioning in an individual younger than 5 years
What is global developmental delay?
True or false: VUS are recommended to be reported for certain genes on the ACMG SF v3.2 list.
What is FALSE?
This is the most sensitive and specific screening test for the common fetal aneuploidies
What is NIPT?
Genetic testing is indicated for anyone with a diagnosis of breast cancer at this age or younger
What is 50?
Current NSGC guidelines for epilepsy genetic testing recommend this as first-tier testing
What is exome or genome sequencing?
Fragile X testing is this tier in the new guidelines
What is Tier 2?
The current ACMG SF v3.2 list contains this number of genes
What is 80?
Patients whose cell-free DNA screening test results are not reported by the laboratory or are uninterpretable (a no‐call test result) should be informed that test failure is associated with an increased risk of this
What is aneuploidy?
Testing is indicated for individuals of this ancestry group with a personal history of breast or prostate cancer at any age
What is Ashkenazi Jewish?
True or false: A 2022 NSGC practice guideline stated that telehealth genetic counseling, including both video and telephone, is a non-inferior and comparable service delivery model to in-person GC services.
What is TRUE?
Tier 1 testing includes either genome sequencing or these two tests together
What is Exome and Microarray?
Name one of the four inborn errors of metabolism genes on the current ACMG SF v3.2 list
What is Biotinidase deficiency (BTD), Fabry disease (GLA), OTC deficiency (OTC), or Pompe disease (GAA)?
ACOG recommends genetic carrier screening for all pregnant or preconception patients for these two conditions
What are CF and SMA?
Testing for PTEN/Cowden syndrome is indicated for anyone with a diagnosis of autism and this physical feature
What is macrocephaly?
A 2023 NSGC guideline stated that expanded carrier screening is superior compared to carrier screening based on this
An evaluation by a neurologist or geneticist is specifically recommended when a child has this finding
The first ACMG secondary findings list was published in this year, when exomes were still new to the clinical setting
What is 2013?
ACOG recommends that individuals of African, Middle Eastern, SE Asian, West Indian and Mediterranean ancestry undergo this test to screen for hemoglobinopathies
What is Hemoglobin electrophoresis?
Endometrial cancer under the age of 50 meets criteria for testing for this syndrome
What is Lynch?
True or false: According to an NSGC practice resource on HCM: Family screening is recommended for first-degree relatives of patients with HCM as long as they are 18 or older.
What is FALSE?
Metabolic testing for lysosomal storage disorders falls in this tier of testing
What is tier 3?
These three genes were added to the ACMG SF v3.2 list which had never been on the list previously
What are CALM1, CALM2, and CALM3?
What are Ashkenazi Jewish, French Canadian, and Cajun?
This specific eye finding, if multifocal or bilateral, warrants genetic testing for adenomatous polyposis
What is congenital hypertrophy of retinal pigment epithelium (CHRPE)?
The 2022 NSGC practice resource on pedigree nomenclature states that the symbols on pedigrees (I.e squares and circles) should correspond to this
What is gender identity?