Diagnosis and Management of Adult Patients with Cowden Syndrome
For geneticists who are involved in the diagnosis and management of an adult patient with a diagnosis of Cowden syndrome or PTEN hamartoma tumor syndrome.
Assessment for and Management of Lynch Syndrome
For geneticists who are involved in the diagnosis, counseling and management of patients with
Lynch syndrome. This module is geared towards the initial evaluation and management of patients
with Lynch syndrome, not for the evaluation of whether Lynch syndrome is in the
differential.
Counseling for Inherited Cancer Risk
Counseling for individuals presenting for evaluation of a possible hereditary risk for cancer based on personal or family history.
BRCA1 and BRCA2-Associated Hereditary Breast and Ovarian Cancer Version 2021
This module evaluates clinical practice in the care of patients who are either affected and/or have a family history of breast and ovarian cancer.
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Interpretation and Reporting of Copy Number Variants Detected by CMA in Constitutional Testing
This module is an overview of recommendations for genetics laboratory reporting work-up and interpretation of results identified by chromosomal (aka whole genome) microarray (CMA).
Cytogenetic Analysis of Newly Diagnosed Acute Leukemia (AML, A-ALL, P-ALL)
Version 2020
For Cytogenetics Laboratory Directors who sign out cases of patients with newly diagnosed acute leukemia. This module covers both pediatric and adult patients.
Chromosome and FISH Analyses of Patients with Suspicion of Turner Syndrome Version 2021
This module is an overview of recommendations for metaphase chromosome analysis of patients with suspicion of Turner syndrome. Chromosome analysis, with adjunct fluorescence in situ hybridization (FISH) and/or chromosomal microarray, can diagnose Turner syndrome and identify the multiple different abnormal karyotypes that may be present. The aim of this module is to encourage appropriate work-up that will detect mosaicism and other karyotypic variations that may impact clinical outcome.
Cytogenomic Analysis of Newly Diagnosed Plasma Cell Disorders (Multiple Myeloma, MGUS, Plasmacytoma, Smoldering Myeloma)
This module is an overview of recommendations for cytogenomic laboratory work-up of patients with newly diagnosed plasma cell disorders.
Analysis of Urine Organic Acids
For clinical biochemical geneticists who analyze, interpret, and report urine organic acids.
Germline Variant Reporting in Patients Undergoing Tumor Testing
This module is an overview of the ACMG statement on reporting germline variants detected during tumor testing. It touches upon important considerations when inferring germline status of the variants identified via somatic testing and pertaining this information in the report.
Molecular Genetic Testing of CGG Repeat Expansions in Fragile X
This module is an overview of the ACMG technical standards for molecular genetic testing of CGG repeat expansions in the 5’-untranslated region of the
FMR1 gene.
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Analysis of Acylcarnitines
This module is for clinical biochemical geneticists who are responsible for analysis, interpretation, and reporting of acylcarnitine profiles.
Evaluation and Ongoing Care of Biotinidase Deficiency Version 2020
For geneticists who provide initial evaluation and ongoing management of individuals with biotinidase deficiency diagnosed by newborn screen.
22q11.2 Deletion Syndrome (2024 version)
For geneticists who are involved in the initial and ongoing care of patients with 22q11.2
deletion syndrome. This does NOT include patients with known atypical deletions or who have
duplications of this region.
Assessment and Management of Fragile X Syndrome
For geneticists who are involved in the initial and ongoing care of patients with Fragile X
syndrome. This does NOT include prenatal screening but the postnatal care of patients.
Autism
For geneticists involved in the further evaluation and care of patients diagnosed with
Autism.
Classic Galactosemia Version 2020
For geneticist who provide initial and ongoing care to patients diagnosed with galactosemia.
This does NOT include the follow up of newborn screen abnormalities but focuses on patients
diagnosed with galactosemia.
Down Syndrome
For geneticists who are involved in the initial and ongoing care of patients with Down syndrome.
This does NOT include prenatal screening but the post-natal care of patients.
Evaluation of the Individual with Suspected Marfan Syndrome Version 2021
For clinical geneticists who are involved in the diagnosis and counseling of patients with
suspected Marfan syndrome.
General Genetics Patient Version 2021
This module is for documenting the steps taken in a consult for any patient with any diagnosis.
A general module that anyone can use who is seeing consults or referrals in clinic for
diagnostic purposes.
Evaluation of the Individual with Early Onset Hearing Loss
For clinical geneticists who are involved in the genetic evaluation and counseling of patients
and families with hearing loss to determine, particularly with regard to determining genetic
etiology.
Beckwith-Wiedemann Syndrome and Isolated Lateralized Overgrowth (Isolated Hemihyperplasia or
Hemihypertrophy)
For geneticists who are involved in the diagnosis, counseling and management of patients with
Beckwith-Wiedemann Syndrome and Isolated Lateralized Overgrowth (Isolated Hemihyperplasia or
Hemihypertrophy). This module is geared toward the initial evaluation and management of patients
with Beckwith-Wiedemann Syndrome and Isolated Lateralized Overgrowth, not for the evaluation of
whether Beckwith-Wiedemann Syndrome and Isolated Lateralized Overgrowth is in the
differential.
Medium-chain Acyl CoA Dehydrogenase Deficiency (MCAD) Version 2022
For geneticists who are involved in the diagnosis and management of patients with MCAD deficiency.
Management of Patients with Urea Cycle Disorders
For geneticist who provide ongoing care to patients diagnosed with Urea Cycle Disorders.
Neurofibromatosis-Type 1 (NF1) Version 2021
For geneticists who are involved in the initial and ongoing care of patients with
Neurofibromatosis. This does NOT include the evaluation of patients for possible
Neurofibromatosis but the ongoing care of diagnosed patients.
Phenylketonuria Due to Phenylalanine Hydroxylase Deficiency
For a geneticist who provides ongoing care to patients diagnosed with phenylketonuria due to
phenylalanine hydroxylase deficiency.
Variant of Uncertain Significance (VUS) Result Updating
For clinical geneticists and other clinicians who are involved in the clinical care of patients
that have received a variant of uncertain significance (VUS) through genetic
testing.
Achondroplasia Evaluation and Management
For geneticists who are evaluation and manage patients with Achondroplasia. The care of children
and adults with the skeletal dysplasia Achondroplasia requires longitudinal monitoring for
potential neurological, craniofacial, respiratory and orthopedic complications related to
abnormal endochondral bone growth and development.
Mild Fetal Ventriculomegaly
This module assesses the diagnosis and clinical management of pregnant individuals with mild fetal lateral cerebral ventriculomegaly on ultrasound.
Turner Syndrome (TS)
Turner Syndrome is a common disorder due to aneuploidy of the sex chromosomes. This module assesses the appropriate following of guidelines for diagnosis and clinical management of Turner syndrome.
Klinefelter Syndrome (KS)
This module assesses the appropriate following guidelines for diagnosis and clinical management of Klinefelter syndrome (KS) patients over the age of 6 years.
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Neurofibromatosis Type 2 (NF2)
For geneticists who care for children and adults with NF2.
Evaluation of Abnormal Maternal Serum Screening
For geneticists who are involved in the counseling and decision making for patients with a
documented abnormal maternal serum screen.
Prenatal Genetic Screening for Fetal Aneuploidy
For clinical geneticists who are involved in the acquisition, interpretation and counseling for
fetal aneuploidy screening. It is NOT intended for those clinical geneticists who are involved with
counseling screen positive patients AFTER screening samples are obtained.
Genetic Counseling for Prenatal Diagnostic Testing
This module is designed for the practitioner involved in counseling patients prior to a patient
having a diagnostic procedure performed.
Prenatal Cell-Free DNA Screening
For the geneticist who is involved in counseling prenatal patients about genetic screening options for aneuploidy including Prenatal Cell-Free DNA Screening. This module is not for the individual who counsels on results of Prenatal Cell-Free DNA Screening ordered by another provider.
Carrier Screening
For the geneticist who offers preconception or prenatal carrier screening.
Preconception Genetic Consultation
This module is designed for the physician who sees patients in the preconception setting for counseling regarding risks to future pregnancy.
Prenatal Exome Screening after Abnormal Ultrasound
Many patients undergo ultrasonography during pregnancy. If a fetal anomaly is detected, genetic counseling should be offered and genetic testing options should be reviewed. Prenatal exome sequencing may be one of the strategies discussed depending on the clinical scenario.
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