Part IV MOC – Evaluation of Performance in Practice


                   Prenatal Genetics

 

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 Preconception or Prenatal Diagnosis
For geneticists involved in prenatal or preconception evaluation or counseling for any conditions. This is NOT specific for but may include first trimester screening or maternal serum screening abnormalities.


Medical Genetics

  22q11.2 Deletion Syndrome

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 post natal care of patients.

Autism Spectrum Disorder

For geneticists involved in the further evaluation and care of patients diagnosed with Autism.

Classic Galactosemia

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
For clinical geneticists who are involved in the diagnosis and counseling of patients with suspected Marfan syndrome.

General Genetics Patient

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.

  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.

Management of Patients with MCAD deficiency
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 Defects.


Neurofibromatosis-Type 1 (NF1)

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.

  Turner Syndrome and Klinefelter Syndrome

Turner  syndrome is a common disorder due to aneuploidy of the sex chromosomes. This MOC provides practice performance assessments for a total of 5 patients with Turner Syndrome or Klinefelter Syndrome.


  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. 



Cancer Genetics

 
Assessment for the Possibility of Cowden Syndrome
 

For geneticists who are involved in the diagnosis and care of adult patients with Cowden 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
For geneticists who were involved in the assessment and counseling of general inherited cancer risk.